SNP Links for Protein (Select 157743252) - SNP

Links from Protein

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Select item 14909940651.

rs1490994065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65617005 (GRCh38)
11:65384476 (GRCh37)
Canonical SPDI:: NC_000011.10:65617004:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65617005C>T, NC_000011.9:g.65384476C>T, XM_005273987.6:c.335C>T, XM_005273987.5:c.335C>T, XM_005273987.4:c.335C>T, XM_005273987.3:c.335C>T, XM_005273987.2:c.335C>T, XM_005273987.1:c.335C>T, XM_005273990.6:c.335C>T, XM_005273990.5:c.335C>T, XM_005273990.4:c.335C>T, XM_005273990.3:c.335C>T, XM_005273990.2:c.335C>T, XM_005273990.1:c.335C>T, XM_006718549.5:c.335C>T, XM_006718549.4:c.335C>T, XM_006718549.3:c.335C>T, XM_006718549.2:c.335C>T, XM_006718549.1:c.335C>T, NM_032223.4:c.335C>T, NM_032223.3:c.335C>T, NM_032223.2:c.335C>T, XM_011545025.4:c.335C>T, XM_011545025.3:c.335C>T, XM_011545025.2:c.335C>T, XM_011545025.1:c.335C>T, XM_011545028.4:c.335C>T, XM_011545028.3:c.335C>T, XM_011545028.2:c.335C>T, XM_011545028.1:c.335C>T, XM_011545024.3:c.335C>T, XM_011545024.2:c.335C>T, XM_011545024.1:c.335C>T, XM_047426937.1:c.335C>T, XM_047426938.1:c.335C>T, XM_047426939.1:c.335C>T, XP_005274044.1:p.Pro112Leu, XP_005274047.1:p.Pro112Leu, XP_006718612.1:p.Pro112Leu, NP_115599.2:p.Pro112Leu, XP_011543327.1:p.Pro112Leu, XP_011543330.1:p.Pro112Leu, XP_011543326.1:p.Pro112Leu, XP_047282893.1:p.Pro112Leu, XP_047282894.1:p.Pro112Leu, XP_047282895.1:p.Pro112Leu

Select item 14906554272.

rs1490655427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65620383 (GRCh38)
11:65387854 (GRCh37)
Canonical SPDI:: NC_000011.10:65620382:G:A
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.65620383G>A, NC_000011.9:g.65387854G>A, XM_005273987.6:c.2050G>A, XM_005273987.5:c.2050G>A, XM_005273987.4:c.2050G>A, XM_005273987.3:c.2050G>A, XM_005273987.2:c.2050G>A, XM_005273987.1:c.2050G>A, XM_005273990.6:c.2053G>A, XM_005273990.5:c.2053G>A, XM_005273990.4:c.2053G>A, XM_005273990.3:c.2053G>A, XM_005273990.2:c.2053G>A, XM_005273990.1:c.2053G>A, XM_006718549.5:c.2053G>A, XM_006718549.4:c.2053G>A, XM_006718549.3:c.2053G>A, XM_006718549.2:c.2053G>A, XM_006718549.1:c.2053G>A, NM_032223.4:c.2053G>A, NM_032223.3:c.2053G>A, NM_032223.2:c.2053G>A, XM_011545025.4:c.2053G>A, XM_011545025.3:c.2053G>A, XM_011545025.2:c.2053G>A, XM_011545025.1:c.2053G>A, XM_011545028.4:c.2053G>A, XM_011545028.3:c.2053G>A, XM_011545028.2:c.2053G>A, XM_011545028.1:c.2053G>A, XM_011545024.3:c.2053G>A, XM_011545024.2:c.2053G>A, XM_011545024.1:c.2053G>A, XM_047426937.1:c.2050G>A, XM_047426938.1:c.2050G>A, XM_047426939.1:c.2053G>A, XP_005274044.1:p.Glu684Lys, XP_005274047.1:p.Glu685Lys, XP_006718612.1:p.Glu685Lys, NP_115599.2:p.Glu685Lys, XP_011543327.1:p.Glu685Lys, XP_011543330.1:p.Glu685Lys, XP_011543326.1:p.Glu685Lys, XP_047282893.1:p.Glu684Lys, XP_047282894.1:p.Glu684Lys, XP_047282895.1:p.Glu685Lys

Select item 14898598063.

rs1489859806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65624218 (GRCh38)
11:65391689 (GRCh37)
Canonical SPDI:: NC_000011.10:65624217:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.65624218C>T, NC_000011.9:g.65391689C>T, XM_005273987.6:c.2604C>T, XM_005273987.5:c.2604C>T, XM_005273987.4:c.2604C>T, XM_005273987.3:c.2604C>T, XM_005273987.2:c.2604C>T, XM_005273987.1:c.2604C>T, XM_005273990.6:c.2607C>T, XM_005273990.5:c.2607C>T, XM_005273990.4:c.2607C>T, XM_005273990.3:c.2607C>T, XM_005273990.2:c.2607C>T, XM_005273990.1:c.2607C>T, XM_006718549.5:c.2589C>T, XM_006718549.4:c.2589C>T, XM_006718549.3:c.2589C>T, XM_006718549.2:c.2589C>T, XM_006718549.1:c.2589C>T, NM_032223.4:c.2568C>T, NM_032223.3:c.2568C>T, NM_032223.2:c.2568C>T, XM_011545025.4:c.2607C>T, XM_011545025.3:c.2607C>T, XM_011545025.2:c.2607C>T, XM_011545025.1:c.2607C>T, XM_011545028.4:c.2607C>T, XM_011545028.3:c.2607C>T, XM_011545028.2:c.2607C>T, XM_011545028.1:c.2607C>T, XM_011545024.3:c.2607C>T, XM_011545024.2:c.2607C>T, XM_011545024.1:c.2607C>T, XM_047426937.1:c.2586C>T, XM_047426938.1:c.2565C>T, XM_047426939.1:c.2607C>T

Select item 14897940994.

rs1489794099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65635071 (GRCh38)
11:65402542 (GRCh37)
Canonical SPDI:: NC_000011.10:65635070:T:C
Gene:: PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65635071T>C, NC_000011.9:g.65402542T>C, XM_005273987.6:c.4940T>C, XM_005273987.5:c.4940T>C, XM_005273987.4:c.4940T>C, XM_005273987.3:c.4940T>C, XM_005273987.2:c.4940T>C, XM_005273987.1:c.4940T>C, XM_006718549.5:c.4925T>C, XM_006718549.4:c.4925T>C, XM_006718549.3:c.4925T>C, XM_006718549.2:c.4925T>C, XM_006718549.1:c.4925T>C, NM_032223.4:c.4904T>C, NM_032223.3:c.4904T>C, NM_032223.2:c.4904T>C, XM_011545025.4:c.4943T>C, XM_011545025.3:c.4943T>C, XM_011545025.2:c.4943T>C, XM_011545025.1:c.4943T>C, XM_011545024.3:c.4943T>C, XM_011545024.2:c.4943T>C, XM_011545024.1:c.4943T>C, XM_047426937.1:c.4922T>C, XM_047426938.1:c.4901T>C, XP_005274044.1:p.Leu1647Pro, XP_006718612.1:p.Leu1642Pro, NP_115599.2:p.Leu1635Pro, XP_011543327.1:p.Leu1648Pro, XP_011543326.1:p.Leu1648Pro, XP_047282893.1:p.Leu1641Pro, XP_047282894.1:p.Leu1634Pro

Select item 14897250455.

rs1489725045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:65636192 (GRCh38)
11:65403663 (GRCh37)
Canonical SPDI:: NC_000011.10:65636191:C:A,NC_000011.10:65636191:C:T
Gene:: SIPA1 (Varview), PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65636192C>A, NC_000011.10:g.65636192C>T, NC_000011.9:g.65403663C>A, NC_000011.9:g.65403663C>T, XM_005273987.6:c.5514C>A, XM_005273987.6:c.5514C>T, XM_005273987.5:c.5514C>A, XM_005273987.5:c.5514C>T, XM_005273987.4:c.5514C>A, XM_005273987.4:c.5514C>T, XM_005273987.3:c.5514C>A, XM_005273987.3:c.5514C>T, XM_005273987.2:c.5514C>A, XM_005273987.2:c.5514C>T, XM_005273987.1:c.5514C>A, XM_005273987.1:c.5514C>T, XM_006718549.5:c.5499C>A, XM_006718549.5:c.5499C>T, XM_006718549.4:c.5499C>A, XM_006718549.4:c.5499C>T, XM_006718549.3:c.5499C>A, XM_006718549.3:c.5499C>T, XM_006718549.2:c.5499C>A, XM_006718549.2:c.5499C>T, XM_006718549.1:c.5499C>A, XM_006718549.1:c.5499C>T, NM_032223.4:c.5478C>A, NM_032223.4:c.5478C>T, NM_032223.3:c.5478C>A, NM_032223.3:c.5478C>T, NM_032223.2:c.5478C>A, NM_032223.2:c.5478C>T, XM_011545025.4:c.*63C>A, XM_011545025.4:c.*63C>T, XM_011545025.3:c.*63C>A, XM_011545025.3:c.*63C>T, XM_011545025.2:c.*63C>A, XM_011545025.2:c.*63C>T, XM_011545025.1:c.*63C>A, XM_011545025.1:c.*63C>T, XM_011545024.3:c.5517C>A, XM_011545024.3:c.5517C>T, XM_011545024.2:c.5517C>A, XM_011545024.2:c.5517C>T, XM_011545024.1:c.5517C>A, XM_011545024.1:c.5517C>T, XM_047426937.1:c.5496C>A, XM_047426937.1:c.5496C>T, XM_047426938.1:c.5475C>A, XM_047426938.1:c.5475C>T

Select item 14895018656.

rs1489501865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:65636934 (GRCh38)
11:65404405 (GRCh37)
Canonical SPDI:: NC_000011.10:65636933:C:G,NC_000011.10:65636933:C:T
Gene:: SIPA1 (Varview), PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65636934C>G, NC_000011.10:g.65636934C>T, NC_000011.9:g.65404405C>G, NC_000011.9:g.65404405C>T, XM_005273987.6:c.6097C>G, XM_005273987.6:c.6097C>T, XM_005273987.5:c.6097C>G, XM_005273987.5:c.6097C>T, XM_005273987.4:c.6097C>G, XM_005273987.4:c.6097C>T, XM_005273987.3:c.6097C>G, XM_005273987.3:c.6097C>T, XM_005273987.2:c.6097C>G, XM_005273987.2:c.6097C>T, XM_005273987.1:c.6097C>G, XM_005273987.1:c.6097C>T, XM_006718549.5:c.6082C>G, XM_006718549.5:c.6082C>T, XM_006718549.4:c.6082C>G, XM_006718549.4:c.6082C>T, XM_006718549.3:c.6082C>G, XM_006718549.3:c.6082C>T, XM_006718549.2:c.6082C>G, XM_006718549.2:c.6082C>T, XM_006718549.1:c.6082C>G, XM_006718549.1:c.6082C>T, NM_032223.4:c.6061C>G, NM_032223.4:c.6061C>T, NM_032223.3:c.6061C>G, NM_032223.3:c.6061C>T, NM_032223.2:c.6061C>G, NM_032223.2:c.6061C>T, XM_011545024.3:c.6100C>G, XM_011545024.3:c.6100C>T, XM_011545024.2:c.6100C>G, XM_011545024.2:c.6100C>T, XM_011545024.1:c.6100C>G, XM_011545024.1:c.6100C>T, XM_047426937.1:c.6079C>G, XM_047426937.1:c.6079C>T, XM_047426938.1:c.6058C>G, XM_047426938.1:c.6058C>T, XP_005274044.1:p.Arg2033Gly, XP_005274044.1:p.Arg2033Cys, XP_006718612.1:p.Arg2028Gly, XP_006718612.1:p.Arg2028Cys, NP_115599.2:p.Arg2021Gly, NP_115599.2:p.Arg2021Cys, XP_011543326.1:p.Arg2034Gly, XP_011543326.1:p.Arg2034Cys, XP_047282893.1:p.Arg2027Gly, XP_047282893.1:p.Arg2027Cys, XP_047282894.1:p.Arg2020Gly, XP_047282894.1:p.Arg2020Cys

Select item 14891310477.

rs1489131047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65634601 (GRCh38)
11:65402072 (GRCh37)
Canonical SPDI:: NC_000011.10:65634600:C:T
Gene:: PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,downstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65634601C>T, NC_000011.9:g.65402072C>T, XM_005273987.6:c.4801C>T, XM_005273987.5:c.4801C>T, XM_005273987.4:c.4801C>T, XM_005273987.3:c.4801C>T, XM_005273987.2:c.4801C>T, XM_005273987.1:c.4801C>T, XM_006718549.5:c.4786C>T, XM_006718549.4:c.4786C>T, XM_006718549.3:c.4786C>T, XM_006718549.2:c.4786C>T, XM_006718549.1:c.4786C>T, NM_032223.4:c.4765C>T, NM_032223.3:c.4765C>T, NM_032223.2:c.4765C>T, XM_011545025.4:c.4804C>T, XM_011545025.3:c.4804C>T, XM_011545025.2:c.4804C>T, XM_011545025.1:c.4804C>T, XM_011545024.3:c.4804C>T, XM_011545024.2:c.4804C>T, XM_011545024.1:c.4804C>T, XM_047426937.1:c.4783C>T, XM_047426938.1:c.4762C>T, XP_005274044.1:p.Arg1601Cys, XP_006718612.1:p.Arg1596Cys, NP_115599.2:p.Arg1589Cys, XP_011543327.1:p.Arg1602Cys, XP_011543326.1:p.Arg1602Cys, XP_047282893.1:p.Arg1595Cys, XP_047282894.1:p.Arg1588Cys

Select item 14887909958.

rs1488790995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65624273 (GRCh38)
11:65391744 (GRCh37)
Canonical SPDI:: NC_000011.10:65624272:C:G
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65624273C>G, NC_000011.9:g.65391744C>G, XM_005273987.6:c.2659C>G, XM_005273987.5:c.2659C>G, XM_005273987.4:c.2659C>G, XM_005273987.3:c.2659C>G, XM_005273987.2:c.2659C>G, XM_005273987.1:c.2659C>G, XM_005273990.6:c.2662C>G, XM_005273990.5:c.2662C>G, XM_005273990.4:c.2662C>G, XM_005273990.3:c.2662C>G, XM_005273990.2:c.2662C>G, XM_005273990.1:c.2662C>G, XM_006718549.5:c.2644C>G, XM_006718549.4:c.2644C>G, XM_006718549.3:c.2644C>G, XM_006718549.2:c.2644C>G, XM_006718549.1:c.2644C>G, NM_032223.4:c.2623C>G, NM_032223.3:c.2623C>G, NM_032223.2:c.2623C>G, XM_011545025.4:c.2662C>G, XM_011545025.3:c.2662C>G, XM_011545025.2:c.2662C>G, XM_011545025.1:c.2662C>G, XM_011545028.4:c.2662C>G, XM_011545028.3:c.2662C>G, XM_011545028.2:c.2662C>G, XM_011545028.1:c.2662C>G, XM_011545024.3:c.2662C>G, XM_011545024.2:c.2662C>G, XM_011545024.1:c.2662C>G, XM_047426937.1:c.2641C>G, XM_047426938.1:c.2620C>G, XM_047426939.1:c.2662C>G, XP_005274044.1:p.Leu887Val, XP_005274047.1:p.Leu888Val, XP_006718612.1:p.Leu882Val, NP_115599.2:p.Leu875Val, XP_011543327.1:p.Leu888Val, XP_011543330.1:p.Leu888Val, XP_011543326.1:p.Leu888Val, XP_047282893.1:p.Leu881Val, XP_047282894.1:p.Leu874Val, XP_047282895.1:p.Leu888Val

Select item 14887410619.

rs1488741061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65635704 (GRCh38)
11:65403175 (GRCh37)
Canonical SPDI:: NC_000011.10:65635703:C:T
Gene:: PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65635704C>T, NC_000011.9:g.65403175C>T, XM_005273987.6:c.5396C>T, XM_005273987.5:c.5396C>T, XM_005273987.4:c.5396C>T, XM_005273987.3:c.5396C>T, XM_005273987.2:c.5396C>T, XM_005273987.1:c.5396C>T, XM_006718549.5:c.5381C>T, XM_006718549.4:c.5381C>T, XM_006718549.3:c.5381C>T, XM_006718549.2:c.5381C>T, XM_006718549.1:c.5381C>T, NM_032223.4:c.5360C>T, NM_032223.3:c.5360C>T, NM_032223.2:c.5360C>T, XM_011545025.4:c.5399C>T, XM_011545025.3:c.5399C>T, XM_011545025.2:c.5399C>T, XM_011545025.1:c.5399C>T, XM_011545024.3:c.5399C>T, XM_011545024.2:c.5399C>T, XM_011545024.1:c.5399C>T, XM_047426937.1:c.5378C>T, XM_047426938.1:c.5357C>T, XP_005274044.1:p.Thr1799Ile, XP_006718612.1:p.Thr1794Ile, NP_115599.2:p.Thr1787Ile, XP_011543327.1:p.Thr1800Ile, XP_011543326.1:p.Thr1800Ile, XP_047282893.1:p.Thr1793Ile, XP_047282894.1:p.Thr1786Ile

Select item 148842120010.

rs1488421200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65625439 (GRCh38)
11:65392910 (GRCh37)
Canonical SPDI:: NC_000011.10:65625438:G:A
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65625439G>A, NC_000011.9:g.65392910G>A, XM_005273987.6:c.3100G>A, XM_005273987.5:c.3100G>A, XM_005273987.4:c.3100G>A, XM_005273987.3:c.3100G>A, XM_005273987.2:c.3100G>A, XM_005273987.1:c.3100G>A, XM_005273990.6:c.3103G>A, XM_005273990.5:c.3103G>A, XM_005273990.4:c.3103G>A, XM_005273990.3:c.3103G>A, XM_005273990.2:c.3103G>A, XM_005273990.1:c.3103G>A, XM_006718549.5:c.3085G>A, XM_006718549.4:c.3085G>A, XM_006718549.3:c.3085G>A, XM_006718549.2:c.3085G>A, XM_006718549.1:c.3085G>A, NM_032223.4:c.3064G>A, NM_032223.3:c.3064G>A, NM_032223.2:c.3064G>A, XM_011545025.4:c.3103G>A, XM_011545025.3:c.3103G>A, XM_011545025.2:c.3103G>A, XM_011545025.1:c.3103G>A, XM_011545028.4:c.3103G>A, XM_011545028.3:c.3103G>A, XM_011545028.2:c.3103G>A, XM_011545028.1:c.3103G>A, XM_011545024.3:c.3103G>A, XM_011545024.2:c.3103G>A, XM_011545024.1:c.3103G>A, XM_047426937.1:c.3082G>A, XM_047426938.1:c.3061G>A, XM_047426939.1:c.3103G>A, XP_005274044.1:p.Glu1034Lys, XP_005274047.1:p.Glu1035Lys, XP_006718612.1:p.Glu1029Lys, NP_115599.2:p.Glu1022Lys, XP_011543327.1:p.Glu1035Lys, XP_011543330.1:p.Glu1035Lys, XP_011543326.1:p.Glu1035Lys, XP_047282893.1:p.Glu1028Lys, XP_047282894.1:p.Glu1021Lys, XP_047282895.1:p.Glu1035Lys

Select item 148838949811.

rs1488389498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65624988 (GRCh38)
11:65392459 (GRCh37)
Canonical SPDI:: NC_000011.10:65624987:T:C
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.65624988T>C, NC_000011.9:g.65392459T>C, XM_005273987.6:c.2927T>C, XM_005273987.5:c.2927T>C, XM_005273987.4:c.2927T>C, XM_005273987.3:c.2927T>C, XM_005273987.2:c.2927T>C, XM_005273987.1:c.2927T>C, XM_005273990.6:c.2930T>C, XM_005273990.5:c.2930T>C, XM_005273990.4:c.2930T>C, XM_005273990.3:c.2930T>C, XM_005273990.2:c.2930T>C, XM_005273990.1:c.2930T>C, XM_006718549.5:c.2912T>C, XM_006718549.4:c.2912T>C, XM_006718549.3:c.2912T>C, XM_006718549.2:c.2912T>C, XM_006718549.1:c.2912T>C, NM_032223.4:c.2891T>C, NM_032223.3:c.2891T>C, NM_032223.2:c.2891T>C, XM_011545025.4:c.2930T>C, XM_011545025.3:c.2930T>C, XM_011545025.2:c.2930T>C, XM_011545025.1:c.2930T>C, XM_011545028.4:c.2930T>C, XM_011545028.3:c.2930T>C, XM_011545028.2:c.2930T>C, XM_011545028.1:c.2930T>C, XM_011545024.3:c.2930T>C, XM_011545024.2:c.2930T>C, XM_011545024.1:c.2930T>C, XM_047426937.1:c.2909T>C, XM_047426938.1:c.2888T>C, XM_047426939.1:c.2930T>C, XP_005274044.1:p.Leu976Pro, XP_005274047.1:p.Leu977Pro, XP_006718612.1:p.Leu971Pro, NP_115599.2:p.Leu964Pro, XP_011543327.1:p.Leu977Pro, XP_011543330.1:p.Leu977Pro, XP_011543326.1:p.Leu977Pro, XP_047282893.1:p.Leu970Pro, XP_047282894.1:p.Leu963Pro, XP_047282895.1:p.Leu977Pro

Select item 148827828812.

rs1488278288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:65629635 (GRCh38)
11:65397106 (GRCh37)
Canonical SPDI:: NC_000011.10:65629634:C:G,NC_000011.10:65629634:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65629635C>G, NC_000011.10:g.65629635C>T, NC_000011.9:g.65397106C>G, NC_000011.9:g.65397106C>T, XM_005273987.6:c.4152C>G, XM_005273987.6:c.4152C>T, XM_005273987.5:c.4152C>G, XM_005273987.5:c.4152C>T, XM_005273987.4:c.4152C>G, XM_005273987.4:c.4152C>T, XM_005273987.3:c.4152C>G, XM_005273987.3:c.4152C>T, XM_005273987.2:c.4152C>G, XM_005273987.2:c.4152C>T, XM_005273987.1:c.4152C>G, XM_005273987.1:c.4152C>T, XM_006718549.5:c.4137C>G, XM_006718549.5:c.4137C>T, XM_006718549.4:c.4137C>G, XM_006718549.4:c.4137C>T, XM_006718549.3:c.4137C>G, XM_006718549.3:c.4137C>T, XM_006718549.2:c.4137C>G, XM_006718549.2:c.4137C>T, XM_006718549.1:c.4137C>G, XM_006718549.1:c.4137C>T, NM_032223.4:c.4116C>G, NM_032223.4:c.4116C>T, NM_032223.3:c.4116C>G, NM_032223.3:c.4116C>T, NM_032223.2:c.4116C>G, NM_032223.2:c.4116C>T, XM_011545025.4:c.4155C>G, XM_011545025.4:c.4155C>T, XM_011545025.3:c.4155C>G, XM_011545025.3:c.4155C>T, XM_011545025.2:c.4155C>G, XM_011545025.2:c.4155C>T, XM_011545025.1:c.4155C>G, XM_011545025.1:c.4155C>T, XM_011545024.3:c.4155C>G, XM_011545024.3:c.4155C>T, XM_011545024.2:c.4155C>G, XM_011545024.2:c.4155C>T, XM_011545024.1:c.4155C>G, XM_011545024.1:c.4155C>T, XM_047426937.1:c.4134C>G, XM_047426937.1:c.4134C>T, XM_047426938.1:c.4113C>G, XM_047426938.1:c.4113C>T, XM_047426939.1:c.4155C>G, XM_047426939.1:c.4155C>T, XP_005274044.1:p.Asp1384Glu, XP_006718612.1:p.Asp1379Glu, NP_115599.2:p.Asp1372Glu, XP_011543327.1:p.Asp1385Glu, XP_011543326.1:p.Asp1385Glu, XP_047282893.1:p.Asp1378Glu, XP_047282894.1:p.Asp1371Glu, XP_047282895.1:p.Asp1385Glu

Select item 148825302713.

rs1488253027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65619754 (GRCh38)
11:65387225 (GRCh37)
Canonical SPDI:: NC_000011.10:65619753:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65619754C>T, NC_000011.9:g.65387225C>T, XM_005273990.6:c.1830C>T, XM_005273990.5:c.1830C>T, XM_005273990.4:c.1830C>T, XM_005273990.3:c.1830C>T, XM_005273990.2:c.1830C>T, XM_005273990.1:c.1830C>T, XM_006718549.5:c.1830C>T, XM_006718549.4:c.1830C>T, XM_006718549.3:c.1830C>T, XM_006718549.2:c.1830C>T, XM_006718549.1:c.1830C>T, NM_032223.4:c.1830C>T, NM_032223.3:c.1830C>T, NM_032223.2:c.1830C>T, XM_011545025.4:c.1830C>T, XM_011545025.3:c.1830C>T, XM_011545025.2:c.1830C>T, XM_011545025.1:c.1830C>T, XM_011545028.4:c.1830C>T, XM_011545028.3:c.1830C>T, XM_011545028.2:c.1830C>T, XM_011545028.1:c.1830C>T, XM_011545024.3:c.1830C>T, XM_011545024.2:c.1830C>T, XM_011545024.1:c.1830C>T, XM_047426939.1:c.1830C>T

Select item 148820100614.

rs1488201006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65636469 (GRCh38)
11:65403940 (GRCh37)
Canonical SPDI:: NC_000011.10:65636468:C:T
Gene:: SIPA1 (Varview), PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,missense_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65636469C>T, NC_000011.9:g.65403940C>T, XM_005273987.6:c.5708C>T, XM_005273987.5:c.5708C>T, XM_005273987.4:c.5708C>T, XM_005273987.3:c.5708C>T, XM_005273987.2:c.5708C>T, XM_005273987.1:c.5708C>T, XM_006718549.5:c.5693C>T, XM_006718549.4:c.5693C>T, XM_006718549.3:c.5693C>T, XM_006718549.2:c.5693C>T, XM_006718549.1:c.5693C>T, NM_032223.4:c.5672C>T, NM_032223.3:c.5672C>T, NM_032223.2:c.5672C>T, XM_011545024.3:c.5711C>T, XM_011545024.2:c.5711C>T, XM_011545024.1:c.5711C>T, XM_047426937.1:c.5690C>T, XM_047426938.1:c.5669C>T, XP_005274044.1:p.Pro1903Leu, XP_006718612.1:p.Pro1898Leu, NP_115599.2:p.Pro1891Leu, XP_011543326.1:p.Pro1904Leu, XP_047282893.1:p.Pro1897Leu, XP_047282894.1:p.Pro1890Leu

Select item 148651439715.

rs1486514397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65634185 (GRCh38)
11:65401656 (GRCh37)
Canonical SPDI:: NC_000011.10:65634184:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65634185C>T, NC_000011.9:g.65401656C>T, XM_005273987.6:c.4566C>T, XM_005273987.5:c.4566C>T, XM_005273987.4:c.4566C>T, XM_005273987.3:c.4566C>T, XM_005273987.2:c.4566C>T, XM_005273987.1:c.4566C>T, XM_006718549.5:c.4551C>T, XM_006718549.4:c.4551C>T, XM_006718549.3:c.4551C>T, XM_006718549.2:c.4551C>T, XM_006718549.1:c.4551C>T, NM_032223.4:c.4530C>T, NM_032223.3:c.4530C>T, NM_032223.2:c.4530C>T, XM_011545025.4:c.4569C>T, XM_011545025.3:c.4569C>T, XM_011545025.2:c.4569C>T, XM_011545025.1:c.4569C>T, XM_011545024.3:c.4569C>T, XM_011545024.2:c.4569C>T, XM_011545024.1:c.4569C>T, XM_047426937.1:c.4548C>T, XM_047426938.1:c.4527C>T, XM_047426939.1:c.*41C>T

Select item 148641815916.

rs1486418159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65618952 (GRCh38)
11:65386423 (GRCh37)
Canonical SPDI:: NC_000011.10:65618951:G:A
Gene:: PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65618952G>A, NC_000011.9:g.65386423G>A, XM_005273987.6:c.1590G>A, XM_005273987.5:c.1590G>A, XM_005273987.4:c.1590G>A, XM_005273987.3:c.1590G>A, XM_005273987.2:c.1590G>A, XM_005273987.1:c.1590G>A, XM_005273990.6:c.1590G>A, XM_005273990.5:c.1590G>A, XM_005273990.4:c.1590G>A, XM_005273990.3:c.1590G>A, XM_005273990.2:c.1590G>A, XM_005273990.1:c.1590G>A, XM_006718549.5:c.1590G>A, XM_006718549.4:c.1590G>A, XM_006718549.3:c.1590G>A, XM_006718549.2:c.1590G>A, XM_006718549.1:c.1590G>A, NM_032223.4:c.1590G>A, NM_032223.3:c.1590G>A, NM_032223.2:c.1590G>A, XM_011545025.4:c.1590G>A, XM_011545025.3:c.1590G>A, XM_011545025.2:c.1590G>A, XM_011545025.1:c.1590G>A, XM_011545028.4:c.1590G>A, XM_011545028.3:c.1590G>A, XM_011545028.2:c.1590G>A, XM_011545028.1:c.1590G>A, XM_011545024.3:c.1590G>A, XM_011545024.2:c.1590G>A, XM_011545024.1:c.1590G>A, XM_047426937.1:c.1590G>A, XM_047426938.1:c.1590G>A, XM_047426939.1:c.1590G>A

Select item 148589601317.

rs1485896013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:65630583 (GRCh38)
11:65398054 (GRCh37)
Canonical SPDI:: NC_000011.10:65630582:C:A,NC_000011.10:65630582:C:T
Gene:: PCNX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.00463/1 (Vietnamese)
HGVS:: NC_000011.10:g.65630583C>A, NC_000011.10:g.65630583C>T, NC_000011.9:g.65398054C>A, NC_000011.9:g.65398054C>T, XM_005273987.6:c.4485C>A, XM_005273987.6:c.4485C>T, XM_005273987.5:c.4485C>A, XM_005273987.5:c.4485C>T, XM_005273987.4:c.4485C>A, XM_005273987.4:c.4485C>T, XM_005273987.3:c.4485C>A, XM_005273987.3:c.4485C>T, XM_005273987.2:c.4485C>A, XM_005273987.2:c.4485C>T, XM_005273987.1:c.4485C>A, XM_005273987.1:c.4485C>T, XM_006718549.5:c.4470C>A, XM_006718549.5:c.4470C>T, XM_006718549.4:c.4470C>A, XM_006718549.4:c.4470C>T, XM_006718549.3:c.4470C>A, XM_006718549.3:c.4470C>T, XM_006718549.2:c.4470C>A, XM_006718549.2:c.4470C>T, XM_006718549.1:c.4470C>A, XM_006718549.1:c.4470C>T, NM_032223.4:c.4449C>A, NM_032223.4:c.4449C>T, NM_032223.3:c.4449C>A, NM_032223.3:c.4449C>T, NM_032223.2:c.4449C>A, NM_032223.2:c.4449C>T, XM_011545025.4:c.4488C>A, XM_011545025.4:c.4488C>T, XM_011545025.3:c.4488C>A, XM_011545025.3:c.4488C>T, XM_011545025.2:c.4488C>A, XM_011545025.2:c.4488C>T, XM_011545025.1:c.4488C>A, XM_011545025.1:c.4488C>T, XM_011545024.3:c.4488C>A, XM_011545024.3:c.4488C>T, XM_011545024.2:c.4488C>A, XM_011545024.2:c.4488C>T, XM_011545024.1:c.4488C>A, XM_011545024.1:c.4488C>T, XM_047426937.1:c.4467C>A, XM_047426937.1:c.4467C>T, XM_047426938.1:c.4446C>A, XM_047426938.1:c.4446C>T, XM_047426939.1:c.4488C>A, XM_047426939.1:c.4488C>T

Select item 148557419518.

rs1485574195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65635767 (GRCh38)
11:65403238 (GRCh37)
Canonical SPDI:: NC_000011.10:65635766:G:A
Gene:: PCNX3 (Varview), MIR4690 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65635767G>A, NC_000011.9:g.65403238G>A, XM_005273987.6:c.5459G>A, XM_005273987.5:c.5459G>A, XM_005273987.4:c.5459G>A, XM_005273987.3:c.5459G>A, XM_005273987.2:c.5459G>A, XM_005273987.1:c.5459G>A, XM_006718549.5:c.5444G>A, XM_006718549.4:c.5444G>A, XM_006718549.3:c.5444G>A, XM_006718549.2:c.5444G>A, XM_006718549.1:c.5444G>A, NM_032223.4:c.5423G>A, NM_032223.3:c.5423G>A, NM_032223.2:c.5423G>A, XM_011545025.4:c.5462G>A, XM_011545025.3:c.5462G>A, XM_011545025.2:c.5462G>A, XM_011545025.1:c.5462G>A, XM_011545024.3:c.5462G>A, XM_011545024.2:c.5462G>A, XM_011545024.1:c.5462G>A, XM_047426937.1:c.5441G>A, XM_047426938.1:c.5420G>A, XP_005274044.1:p.Gly1820Asp, XP_006718612.1:p.Gly1815Asp, NP_115599.2:p.Gly1808Asp, XP_011543327.1:p.Gly1821Asp, XP_011543326.1:p.Gly1821Asp, XP_047282893.1:p.Gly1814Asp, XP_047282894.1:p.Gly1807Asp

Select item 148491480319.

rs1484914803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65629735 (GRCh38)
11:65397206 (GRCh37)
Canonical SPDI:: NC_000011.10:65629734:G:A
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.65629735G>A, NC_000011.9:g.65397206G>A, XM_005273987.6:c.4252G>A, XM_005273987.5:c.4252G>A, XM_005273987.4:c.4252G>A, XM_005273987.3:c.4252G>A, XM_005273987.2:c.4252G>A, XM_005273987.1:c.4252G>A, XM_006718549.5:c.4237G>A, XM_006718549.4:c.4237G>A, XM_006718549.3:c.4237G>A, XM_006718549.2:c.4237G>A, XM_006718549.1:c.4237G>A, NM_032223.4:c.4216G>A, NM_032223.3:c.4216G>A, NM_032223.2:c.4216G>A, XM_011545025.4:c.4255G>A, XM_011545025.3:c.4255G>A, XM_011545025.2:c.4255G>A, XM_011545025.1:c.4255G>A, XM_011545024.3:c.4255G>A, XM_011545024.2:c.4255G>A, XM_011545024.1:c.4255G>A, XM_047426937.1:c.4234G>A, XM_047426938.1:c.4213G>A, XM_047426939.1:c.4255G>A, XP_005274044.1:p.Gly1418Ser, XP_006718612.1:p.Gly1413Ser, NP_115599.2:p.Gly1406Ser, XP_011543327.1:p.Gly1419Ser, XP_011543326.1:p.Gly1419Ser, XP_047282893.1:p.Gly1412Ser, XP_047282894.1:p.Gly1405Ser, XP_047282895.1:p.Gly1419Ser

Select item 148476816620.

rs1484768166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65620936 (GRCh38)
11:65388407 (GRCh37)
Canonical SPDI:: NC_000011.10:65620935:G:A,NC_000011.10:65620935:G:C
Gene:: PCNX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.65620936G>A, NC_000011.10:g.65620936G>C, NC_000011.9:g.65388407G>A, NC_000011.9:g.65388407G>C, XM_005273987.6:c.2202G>A, XM_005273987.6:c.2202G>C, XM_005273987.5:c.2202G>A, XM_005273987.5:c.2202G>C, XM_005273987.4:c.2202G>A, XM_005273987.4:c.2202G>C, XM_005273987.3:c.2202G>A, XM_005273987.3:c.2202G>C, XM_005273987.2:c.2202G>A, XM_005273987.2:c.2202G>C, XM_005273987.1:c.2202G>A, XM_005273987.1:c.2202G>C, XM_005273990.6:c.2205G>A, XM_005273990.6:c.2205G>C, XM_005273990.5:c.2205G>A, XM_005273990.5:c.2205G>C, XM_005273990.4:c.2205G>A, XM_005273990.4:c.2205G>C, XM_005273990.3:c.2205G>A, XM_005273990.3:c.2205G>C, XM_005273990.2:c.2205G>A, XM_005273990.2:c.2205G>C, XM_005273990.1:c.2205G>A, XM_005273990.1:c.2205G>C, XM_006718549.5:c.2205G>A, XM_006718549.5:c.2205G>C, XM_006718549.4:c.2205G>A, XM_006718549.4:c.2205G>C, XM_006718549.3:c.2205G>A, XM_006718549.3:c.2205G>C, XM_006718549.2:c.2205G>A, XM_006718549.2:c.2205G>C, XM_006718549.1:c.2205G>A, XM_006718549.1:c.2205G>C, NM_032223.4:c.2205G>A, NM_032223.4:c.2205G>C, NM_032223.3:c.2205G>A, NM_032223.3:c.2205G>C, NM_032223.2:c.2205G>A, NM_032223.2:c.2205G>C, XM_011545025.4:c.2205G>A, XM_011545025.4:c.2205G>C, XM_011545025.3:c.2205G>A, XM_011545025.3:c.2205G>C, XM_011545025.2:c.2205G>A, XM_011545025.2:c.2205G>C, XM_011545025.1:c.2205G>A, XM_011545025.1:c.2205G>C, XM_011545028.4:c.2205G>A, XM_011545028.4:c.2205G>C, XM_011545028.3:c.2205G>A, XM_011545028.3:c.2205G>C, XM_011545028.2:c.2205G>A, XM_011545028.2:c.2205G>C, XM_011545028.1:c.2205G>A, XM_011545028.1:c.2205G>C, XM_011545024.3:c.2205G>A, XM_011545024.3:c.2205G>C, XM_011545024.2:c.2205G>A, XM_011545024.2:c.2205G>C, XM_011545024.1:c.2205G>A, XM_011545024.1:c.2205G>C, XM_047426937.1:c.2202G>A, XM_047426937.1:c.2202G>C, XM_047426938.1:c.2202G>A, XM_047426938.1:c.2202G>C, XM_047426939.1:c.2205G>A, XM_047426939.1:c.2205G>C, XP_005274044.1:p.Gln734His, XP_005274047.1:p.Gln735His, XP_006718612.1:p.Gln735His, NP_115599.2:p.Gln735His, XP_011543327.1:p.Gln735His, XP_011543330.1:p.Gln735His, XP_011543326.1:p.Gln735His, XP_047282893.1:p.Gln734His, XP_047282894.1:p.Gln734His, XP_047282895.1:p.Gln735His

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