SNP Links for Protein (Select 145580590) - SNP

Links from Protein

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Select item 14906302501.

rs1490630250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60124503 (GRCh38)
14:60591221 (GRCh37)
Canonical SPDI:: NC_000014.9:60124502:A:G
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60124503A>G, NC_000014.8:g.60591221A>G, NM_022495.5:c.1630A>G, NM_001330177.2:c.2332A>G, NM_001330177.1:c.2332A>G, XM_047431699.1:c.2332A>G, NP_071940.4:p.Met544Val, NP_001317106.1:p.Met778Val, XP_047287655.1:p.Met778Val

Select item 14901927152.

rs1490192715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:60125060 (GRCh38)
14:60591778 (GRCh37)
Canonical SPDI:: NC_000014.9:60125059:G:A
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60125060G>A, NC_000014.8:g.60591778G>A, NM_022495.5:c.2187G>A, NM_001330177.2:c.2889G>A, NM_001330177.1:c.2889G>A, XM_047431699.1:c.2889G>A

Select item 14901224573.

rs1490122457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:60115233 (GRCh38)
14:60581951 (GRCh37)
Canonical SPDI:: NC_000014.9:60115232:G:C
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.60115233G>C, NC_000014.8:g.60581951G>C, NM_022495.5:c.427G>C, NM_001330177.2:c.1129G>C, NM_001330177.1:c.1129G>C, XM_047431699.1:c.1129G>C, XM_047431700.1:c.1129G>C, NP_071940.4:p.Ala143Pro, NP_001317106.1:p.Ala377Pro, XP_047287655.1:p.Ala377Pro, XP_047287656.1:p.Ala377Pro

Select item 14894505404.

rs1489450540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:60118585 (GRCh38)
14:60585303 (GRCh37)
Canonical SPDI:: NC_000014.9:60118584:G:A
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60118585G>A, NC_000014.8:g.60585303G>A, NM_022495.5:c.1133G>A, NM_001330177.2:c.1835G>A, NM_001330177.1:c.1835G>A, XM_047431699.1:c.1835G>A, XM_047431700.1:c.1835G>A, NP_071940.4:p.Gly378Glu, NP_001317106.1:p.Gly612Glu, XP_047287655.1:p.Gly612Glu, XP_047287656.1:p.Gly612Glu

Select item 14873413815.

rs1487341381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60118485 (GRCh38)
14:60585203 (GRCh37)
Canonical SPDI:: NC_000014.9:60118484:A:G
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.60118485A>G, NC_000014.8:g.60585203A>G, NM_022495.5:c.1033A>G, NM_001330177.2:c.1735A>G, NM_001330177.1:c.1735A>G, XM_047431699.1:c.1735A>G, XM_047431700.1:c.1735A>G, NP_071940.4:p.Ile345Val, NP_001317106.1:p.Ile579Val, XP_047287655.1:p.Ile579Val, XP_047287656.1:p.Ile579Val

Select item 14872811476.

rs1487281147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:60125793 (GRCh38)
14:60592511 (GRCh37)
Canonical SPDI:: NC_000014.9:60125792:C:T
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.60125793C>T, NC_000014.8:g.60592511C>T, NM_022495.5:c.2535C>T, NM_001330177.2:c.3237C>T, NM_001330177.1:c.3237C>T, XM_047431699.1:c.3237C>T, XM_047431700.1:c.*133C>T

Select item 14862904127.

rs1486290412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:60124812 (GRCh38)
14:60591530 (GRCh37)
Canonical SPDI:: NC_000014.9:60124811:T:C
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.60124812T>C, NC_000014.8:g.60591530T>C, NM_022495.5:c.1939T>C, NM_001330177.2:c.2641T>C, NM_001330177.1:c.2641T>C, XM_047431699.1:c.2641T>C

Select item 14861498448.

rs1486149844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60124798 (GRCh38)
14:60591516 (GRCh37)
Canonical SPDI:: NC_000014.9:60124797:A:G
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60124798A>G, NC_000014.8:g.60591516A>G, NM_022495.5:c.1925A>G, NM_001330177.2:c.2627A>G, NM_001330177.1:c.2627A>G, XM_047431699.1:c.2627A>G, NP_071940.4:p.Tyr642Cys, NP_001317106.1:p.Tyr876Cys, XP_047287655.1:p.Tyr876Cys

Select item 14836731989.

rs1483673198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:60124663 (GRCh38)
14:60591381 (GRCh37)
Canonical SPDI:: NC_000014.9:60124662:C:A,NC_000014.9:60124662:C:G,NC_000014.9:60124662:C:T
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.60124663C>A, NC_000014.9:g.60124663C>G, NC_000014.9:g.60124663C>T, NC_000014.8:g.60591381C>A, NC_000014.8:g.60591381C>G, NC_000014.8:g.60591381C>T, NM_022495.5:c.1790C>A, NM_022495.5:c.1790C>G, NM_022495.5:c.1790C>T, NM_001330177.2:c.2492C>A, NM_001330177.2:c.2492C>G, NM_001330177.2:c.2492C>T, NM_001330177.1:c.2492C>A, NM_001330177.1:c.2492C>G, NM_001330177.1:c.2492C>T, XM_047431699.1:c.2492C>A, XM_047431699.1:c.2492C>G, XM_047431699.1:c.2492C>T, NP_071940.4:p.Pro597Gln, NP_071940.4:p.Pro597Arg, NP_071940.4:p.Pro597Leu, NP_001317106.1:p.Pro831Gln, NP_001317106.1:p.Pro831Arg, NP_001317106.1:p.Pro831Leu, XP_047287655.1:p.Pro831Gln, XP_047287655.1:p.Pro831Arg, XP_047287655.1:p.Pro831Leu

Select item 148219941910.

rs1482199419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGTTTCTTGCTGAGT>- [Show Flanks]
Chromosome:: 14:60115067 (GRCh38)
14:60581785 (GRCh37)
Canonical SPDI:: NC_000014.9:60115065:TTGGTTTCTTGCTGAGT:T
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60115067_60115082del, NC_000014.8:g.60581785_60581800del, NM_022495.5:c.261_276del, NM_001330177.2:c.963_978del, NM_001330177.1:c.963_978del, XM_047431699.1:c.963_978del, XM_047431700.1:c.963_978del, NP_071940.4:p.Phe87_Gly88insTer, NP_001317106.1:p.Phe321_Gly322insTer, XP_047287655.1:p.Phe321_Gly322insTer, XP_047287656.1:p.Phe321_Gly322insTer

Select item 148104094711.

rs1481040947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:60124573 (GRCh38)
14:60591291 (GRCh37)
Canonical SPDI:: NC_000014.9:60124572:T:C,NC_000014.9:60124572:T:G
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.60124573T>C, NC_000014.9:g.60124573T>G, NC_000014.8:g.60591291T>C, NC_000014.8:g.60591291T>G, NM_022495.5:c.1700T>C, NM_022495.5:c.1700T>G, NM_001330177.2:c.2402T>C, NM_001330177.2:c.2402T>G, NM_001330177.1:c.2402T>C, NM_001330177.1:c.2402T>G, XM_047431699.1:c.2402T>C, XM_047431699.1:c.2402T>G, NP_071940.4:p.Leu567Ser, NP_071940.4:p.Leu567Trp, NP_001317106.1:p.Leu801Ser, NP_001317106.1:p.Leu801Trp, XP_047287655.1:p.Leu801Ser, XP_047287655.1:p.Leu801Trp

Select item 147852194712.

rs1478521947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60134094 (GRCh38)
14:60600812 (GRCh37)
Canonical SPDI:: NC_000014.9:60134093:A:G
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60134094A>G, NC_000014.8:g.60600812A>G, NM_022495.5:c.2690A>G, NM_001330177.2:c.3392A>G, NM_001330177.1:c.3392A>G, NP_071940.4:p.Asp897Gly, NP_001317106.1:p.Asp1131Gly

Select item 147851865813.

rs1478518658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:60125069 (GRCh38)
14:60591787 (GRCh37)
Canonical SPDI:: NC_000014.9:60125068:T:C
Gene:: PCNX4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60125069T>C, NC_000014.8:g.60591787T>C, NM_022495.5:c.2196T>C, NM_001330177.2:c.2898T>C, NM_001330177.1:c.2898T>C, XM_047431699.1:c.2898T>C

Select item 147720350714.

rs1477203507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:60121206 (GRCh38)
14:60587924 (GRCh37)
Canonical SPDI:: NC_000014.9:60121205:A:T
Gene:: PCNX4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.60121206A>T, NC_000014.8:g.60587924A>T, NM_022495.5:c.1251A>T, NM_001330177.2:c.1953A>T, NM_001330177.1:c.1953A>T, XM_047431699.1:c.1953A>T, XM_047431700.1:c.1953A>T

Select item 147650652215.

rs1476506522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:60118518 (GRCh38)
14:60585236 (GRCh37)
Canonical SPDI:: NC_000014.9:60118517:T:C,NC_000014.9:60118517:T:G
Gene:: PCNX4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.60118518T>C, NC_000014.9:g.60118518T>G, NC_000014.8:g.60585236T>C, NC_000014.8:g.60585236T>G, NM_022495.5:c.1066T>C, NM_022495.5:c.1066T>G, NM_001330177.2:c.1768T>C, NM_001330177.2:c.1768T>G, NM_001330177.1:c.1768T>C, NM_001330177.1:c.1768T>G, XM_047431699.1:c.1768T>C, XM_047431699.1:c.1768T>G, XM_047431700.1:c.1768T>C, XM_047431700.1:c.1768T>G, NP_071940.4:p.Leu356Val, NP_001317106.1:p.Leu590Val, XP_047287655.1:p.Leu590Val, XP_047287656.1:p.Leu590Val

Select item 147565210216.

rs1475652102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:60124315 (GRCh38)
14:60591033 (GRCh37)
Canonical SPDI:: NC_000014.9:60124314:G:A,NC_000014.9:60124314:G:C
Gene:: PCNX4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.60124315G>A, NC_000014.9:g.60124315G>C, NC_000014.8:g.60591033G>A, NC_000014.8:g.60591033G>C, NM_022495.5:c.1442G>A, NM_022495.5:c.1442G>C, NM_001330177.2:c.2144G>A, NM_001330177.2:c.2144G>C, NM_001330177.1:c.2144G>A, NM_001330177.1:c.2144G>C, XM_047431699.1:c.2144G>A, XM_047431699.1:c.2144G>C, NP_071940.4:p.Cys481Tyr, NP_071940.4:p.Cys481Ser, NP_001317106.1:p.Cys715Tyr, NP_001317106.1:p.Cys715Ser, XP_047287655.1:p.Cys715Tyr, XP_047287655.1:p.Cys715Ser

Select item 147548107217.

rs1475481072 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATCATACGTGATCGTTTG>- [Show Flanks]
Chromosome:: 14:60118333 (GRCh38)
14:60585051 (GRCh37)
Canonical SPDI:: NC_000014.9:60118329:TTGGTATCATACGTGATCGTTTG:TTG
Gene:: PCNX4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60118333_60118352del, NC_000014.8:g.60585051_60585070del, NM_022495.5:c.881_900del, NM_001330177.2:c.1583_1602del, NM_001330177.1:c.1583_1602del, XM_047431699.1:c.1583_1602del, XM_047431700.1:c.1583_1602del, NP_071940.4:p.Gly294fs, NP_001317106.1:p.Gly528fs, XP_047287655.1:p.Gly528fs, XP_047287656.1:p.Gly528fs

Select item 147518196618.

rs1475181966 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 14:60115334 (GRCh38)
14:60582053 (GRCh37)
Canonical SPDI:: NC_000014.9:60115334::AT
Gene:: PCNX4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: AT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60115334_60115335insAT, NC_000014.8:g.60582052_60582053insAT, NM_022495.5:c.528_529insAT, NM_001330177.2:c.1230_1231insAT, NM_001330177.1:c.1230_1231insAT, XM_047431699.1:c.1230_1231insAT, XM_047431700.1:c.1230_1231insAT, NP_071940.4:p.Val177fs, NP_001317106.1:p.Val411fs, XP_047287655.1:p.Val411fs, XP_047287656.1:p.Val411fs

Select item 147372653019.

rs1473726530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:60124898 (GRCh38)
14:60591616 (GRCh37)
Canonical SPDI:: NC_000014.9:60124897:A:G
Gene:: PCNX4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.60124898A>G, NC_000014.8:g.60591616A>G, NM_022495.5:c.2025A>G, NM_001330177.2:c.2727A>G, NM_001330177.1:c.2727A>G, XM_047431699.1:c.2727A>G

Select item 147291204920.

rs1472912049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:60125776 (GRCh38)
14:60592494 (GRCh37)
Canonical SPDI:: NC_000014.9:60125775:T:C
Gene:: PCNX4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.60125776T>C, NC_000014.8:g.60592494T>C, NM_022495.5:c.2518T>C, NM_001330177.2:c.3220T>C, NM_001330177.1:c.3220T>C, XM_047431699.1:c.3220T>C, XM_047431700.1:c.*116T>C

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