SNP Links for Protein (Select 33300635) - SNP

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Links from Protein

Items: 1 to 20 of 326

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Select item 14897095691.

rs1489709569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65087406 (GRCh38)
11:64854878 (GRCh37)
Canonical SPDI:: NC_000011.10:65087405:C:T
Gene:: ZFPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65087406C>T, NC_000011.9:g.64854878C>T, NM_006782.4:c.719C>T, NM_006782.3:c.719C>T, NM_001013668.1:c.*823G>A, NP_006773.2:p.Ala240Val

Select item 14873939702.

rs1487393970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65085164 (GRCh38)
11:64852636 (GRCh37)
Canonical SPDI:: NC_000011.10:65085163:C:G
Gene:: ZFPL1 (Varview), CDCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.65085164C>G, NC_000011.9:g.64852636C>G, NM_006782.4:c.152C>G, NM_006782.3:c.152C>G, NM_001013668.1:c.*3065G>C, NP_006773.2:p.Pro51Arg

Select item 14815812823.

rs1481581282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65087074 (GRCh38)
11:64854546 (GRCh37)
Canonical SPDI:: NC_000011.10:65087073:G:A
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65087074G>A, NC_000011.9:g.64854546G>A, NM_006782.4:c.628G>A, NM_006782.3:c.628G>A, NM_001013668.1:c.*1155C>T, NP_006773.2:p.Ala210Thr

Select item 14810621274.

rs1481062127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65086518 (GRCh38)
11:64853990 (GRCh37)
Canonical SPDI:: NC_000011.10:65086517:C:G
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000116/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.65086518C>G, NC_000011.9:g.64853990C>G, NM_006782.4:c.318C>G, NM_006782.3:c.318C>G, NM_001013668.1:c.*1711G>C

Select item 14804860965.

rs1480486096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65086734 (GRCh38)
11:64854206 (GRCh37)
Canonical SPDI:: NC_000011.10:65086733:G:A
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65086734G>A, NC_000011.9:g.64854206G>A, NM_006782.4:c.423G>A, NM_006782.3:c.423G>A, NM_001013668.1:c.*1495C>T

Select item 14804054976.

rs1480405497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65084743 (GRCh38)
11:64852215 (GRCh37)
Canonical SPDI:: NC_000011.10:65084742:C:T
Gene:: ZFPL1 (Varview), CDCA5 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65084743C>T, NC_000011.9:g.64852215C>T, NM_006782.4:c.45C>T, NM_006782.3:c.45C>T

Select item 14792931227.

rs1479293122 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:65086480 (GRCh38)
11:64853952 (GRCh37)
Canonical SPDI:: NC_000011.10:65086479:GG:G
Gene:: ZFPL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65086481del, NC_000011.9:g.64853953del, NM_006782.4:c.281del, NM_006782.3:c.281del, NM_001013668.1:c.*1749del, NP_006773.2:p.Gly94fs

Select item 14777698588.

rs1477769858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65086521 (GRCh38)
11:64853993 (GRCh37)
Canonical SPDI:: NC_000011.10:65086520:A:G
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65086521A>G, NC_000011.9:g.64853993A>G, NM_006782.4:c.321A>G, NM_006782.3:c.321A>G, NM_001013668.1:c.*1708T>C

Select item 14732912409.

rs1473291240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65088016 (GRCh38)
11:64855488 (GRCh37)
Canonical SPDI:: NC_000011.10:65088015:C:A
Gene:: ZFPL1 (Varview), TMEM262 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65088016C>A, NC_000011.9:g.64855488C>A, NM_006782.4:c.835C>A, NM_006782.3:c.835C>A, NM_001013668.1:c.*213G>T, NP_006773.2:p.Leu279Ile

Select item 147230983310.

rs1472309833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:65086561 (GRCh38)
11:64854033 (GRCh37)
Canonical SPDI:: NC_000011.10:65086560:A:T
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.65086561A>T, NC_000011.9:g.64854033A>T, NM_006782.4:c.361A>T, NM_006782.3:c.361A>T, NM_001013668.1:c.*1668T>A, NP_006773.2:p.Lys121Ter

Select item 147214470611.

rs1472144706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65087928 (GRCh38)
11:64855400 (GRCh37)
Canonical SPDI:: NC_000011.10:65087927:G:T
Gene:: ZFPL1 (Varview), TMEM262 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65087928G>T, NC_000011.9:g.64855400G>T, NM_006782.4:c.747G>T, NM_006782.3:c.747G>T, NM_001013668.1:c.*301C>A, NP_006773.2:p.Arg249Ser

Select item 146805618212.

rs1468056182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65086547 (GRCh38)
11:64854019 (GRCh37)
Canonical SPDI:: NC_000011.10:65086546:C:T
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65086547C>T, NC_000011.9:g.64854019C>T, NM_006782.4:c.347C>T, NM_006782.3:c.347C>T, NM_001013668.1:c.*1682G>A, NP_006773.2:p.Ser116Phe

Select item 146284011113.

rs1462840111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65086732 (GRCh38)
11:64854204 (GRCh37)
Canonical SPDI:: NC_000011.10:65086731:G:A
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65086732G>A, NC_000011.9:g.64854204G>A, NM_006782.4:c.421G>A, NM_006782.3:c.421G>A, NM_001013668.1:c.*1497C>T, NP_006773.2:p.Val141Met

Select item 146221638314.

rs1462216383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65086792 (GRCh38)
11:64854264 (GRCh37)
Canonical SPDI:: NC_000011.10:65086791:G:T
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65086792G>T, NC_000011.9:g.64854264G>T, NM_006782.4:c.481G>T, NM_006782.3:c.481G>T, NM_001013668.1:c.*1437C>A, NP_006773.2:p.Ala161Ser

Select item 145971356315.

rs1459713563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65086430 (GRCh38)
11:64853902 (GRCh37)
Canonical SPDI:: NC_000011.10:65086429:C:T
Gene:: ZFPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65086430C>T, NC_000011.9:g.64853902C>T, NM_006782.4:c.230C>T, NM_006782.3:c.230C>T, NM_001013668.1:c.*1799G>A, NP_006773.2:p.Ala77Val

Select item 143812247116.

rs1438122471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65085199 (GRCh38)
11:64852671 (GRCh37)
Canonical SPDI:: NC_000011.10:65085198:C:T
Gene:: ZFPL1 (Varview), CDCA5 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65085199C>T, NC_000011.9:g.64852671C>T, NM_006782.4:c.187C>T, NM_006782.3:c.187C>T, NM_001013668.1:c.*3030G>A, NP_006773.2:p.Arg63Ter

Select item 143458011617.

rs1434580116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65088061 (GRCh38)
11:64855533 (GRCh37)
Canonical SPDI:: NC_000011.10:65088060:G:A
Gene:: ZFPL1 (Varview), TMEM262 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65088061G>A, NC_000011.9:g.64855533G>A, NM_006782.4:c.880G>A, NM_006782.3:c.880G>A, NM_001013668.1:c.*168C>T, NP_006773.2:p.Asp294Asn

Select item 142864172318.

rs1428641723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65085188 (GRCh38)
11:64852660 (GRCh37)
Canonical SPDI:: NC_000011.10:65085187:C:T
Gene:: ZFPL1 (Varview), CDCA5 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65085188C>T, NC_000011.9:g.64852660C>T, NM_006782.4:c.176C>T, NM_006782.3:c.176C>T, NM_001013668.1:c.*3041G>A, NP_006773.2:p.Pro59Leu

Select item 142794997019.

rs1427949970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:65085187 (GRCh38)
11:64852659 (GRCh37)
Canonical SPDI:: NC_000011.10:65085186:C:A,NC_000011.10:65085186:C:G,NC_000011.10:65085186:C:T
Gene:: ZFPL1 (Varview), CDCA5 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65085187C>A, NC_000011.10:g.65085187C>G, NC_000011.10:g.65085187C>T, NC_000011.9:g.64852659C>A, NC_000011.9:g.64852659C>G, NC_000011.9:g.64852659C>T, NM_006782.4:c.175C>A, NM_006782.4:c.175C>G, NM_006782.4:c.175C>T, NM_006782.3:c.175C>A, NM_006782.3:c.175C>G, NM_006782.3:c.175C>T, NM_001013668.1:c.*3042G>T, NM_001013668.1:c.*3042G>C, NM_001013668.1:c.*3042G>A, NP_006773.2:p.Pro59Thr, NP_006773.2:p.Pro59Ala, NP_006773.2:p.Pro59Ser

Select item 142725772520.

rs1427257725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65086520 (GRCh38)
11:64853992 (GRCh37)
Canonical SPDI:: NC_000011.10:65086519:C:G
Gene:: ZFPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65086520C>G, NC_000011.9:g.64853992C>G, NM_006782.4:c.320C>G, NM_006782.3:c.320C>G, NM_001013668.1:c.*1709G>C, NP_006773.2:p.Pro107Arg