SNP Links for Protein (Select 57165373) - SNP

Links from Protein

Items: 1 to 20 of 350

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Select item 14906777031.

rs1490677703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143992596 (GRCh38)
8:145066764 (GRCh37)
Canonical SPDI:: NC_000008.11:143992595:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_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_000008.11:g.143992596G>A, NC_000008.10:g.145066764G>A, NW_003315923.1:g.331241G>A, NM_000837.2:c.954G>A, NM_000837.1:c.954G>A, NM_001009184.2:c.954G>A, NM_001009184.1:c.954G>A

Select item 14892417292.

rs1489241729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143991696 (GRCh38)
8:145065864 (GRCh37)
Canonical SPDI:: NC_000008.11:143991695:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143991696C>T, NC_000008.10:g.145065864C>T, NW_003315923.1:g.330341C>T, NM_000837.2:c.384C>T, NM_000837.1:c.384C>T, NM_001009184.2:c.384C>T, NM_001009184.1:c.384C>T

Select item 14812248373.

rs1481224837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:143992715 (GRCh38)
8:145066883 (GRCh37)
Canonical SPDI:: NC_000008.11:143992714:G:A,NC_000008.11:143992714:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143992715G>A, NC_000008.11:g.143992715G>C, NC_000008.10:g.145066883G>A, NC_000008.10:g.145066883G>C, NW_003315923.1:g.331360G>A, NW_003315923.1:g.331360G>C, NM_000837.2:c.990G>A, NM_000837.2:c.990G>C, NM_000837.1:c.990G>A, NM_000837.1:c.990G>C, NM_001009184.2:c.990G>A, NM_001009184.2:c.990G>C, NM_001009184.1:c.990G>A, NM_001009184.1:c.990G>C

Select item 14660461734.

rs1466046173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143992069 (GRCh38)
8:145066237 (GRCh37)
Canonical SPDI:: NC_000008.11:143992068:T:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_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_000008.11:g.143992069T>G, NC_000008.10:g.145066237T>G, NW_003315923.1:g.330714T>G, NM_000837.2:c.684T>G, NM_000837.1:c.684T>G, NM_001009184.2:c.684T>G, NM_001009184.1:c.684T>G

Select item 14576363385.

rs1457636338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:143991548 (GRCh38)
8:145065716 (GRCh37)
Canonical SPDI:: NC_000008.11:143991547:T:A,NC_000008.11:143991547:T:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
C=0.003927/104 (TOMMO)
HGVS:: NC_000008.11:g.143991548T>A, NC_000008.11:g.143991548T>C, NC_000008.10:g.145065716T>A, NC_000008.10:g.145065716T>C, NW_003315923.1:g.330193T>A, NW_003315923.1:g.330193T>C, NM_000837.2:c.325T>A, NM_000837.2:c.325T>C, NM_000837.1:c.325T>A, NM_000837.1:c.325T>C, NM_001009184.2:c.325T>A, NM_001009184.2:c.325T>C, NM_001009184.1:c.325T>A, NM_001009184.1:c.325T>C, NP_000828.1:p.Phe109Ile, NP_000828.1:p.Phe109Leu, NP_001009184.1:p.Phe109Ile, NP_001009184.1:p.Phe109Leu

Select item 14571227286.

rs1457122728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143992022 (GRCh38)
8:145066190 (GRCh37)
Canonical SPDI:: NC_000008.11:143992021:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.143992022G>A, NC_000008.10:g.145066190G>A, NW_003315923.1:g.330667G>A, NM_000837.2:c.637G>A, NM_000837.1:c.637G>A, NM_001009184.2:c.637G>A, NM_001009184.1:c.637G>A, NP_000828.1:p.Val213Ile, NP_001009184.1:p.Val213Ile

Select item 14560404987.

rs1456040498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:143992012 (GRCh38)
8:145066180 (GRCh37)
Canonical SPDI:: NC_000008.11:143992011:C:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_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_000008.11:g.143992012C>G, NC_000008.10:g.145066180C>G, NW_003315923.1:g.330657C>G, NM_000837.2:c.627C>G, NM_000837.1:c.627C>G, NM_001009184.2:c.627C>G, NM_001009184.1:c.627C>G, NP_000828.1:p.Ile209Met, NP_001009184.1:p.Ile209Met

Select item 14494278308.

rs1449427830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143992564 (GRCh38)
8:145066732 (GRCh37)
Canonical SPDI:: NC_000008.11:143992563:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_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=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.143992564C>T, NC_000008.10:g.145066732C>T, NW_003315923.1:g.331209C>T, NM_000837.2:c.922C>T, NM_000837.1:c.922C>T, NM_001009184.2:c.922C>T, NM_001009184.1:c.922C>T

Select item 14452240079.

rs1445224007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143991484 (GRCh38)
8:145065652 (GRCh37)
Canonical SPDI:: NC_000008.11:143991483:G:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143991484G>C, NC_000008.10:g.145065652G>C, NW_003315923.1:g.330129G>C, NM_000837.2:c.261G>C, NM_000837.1:c.261G>C, NM_001009184.2:c.261G>C, NM_001009184.1:c.261G>C, NP_000828.1:p.Glu87Asp, NP_001009184.1:p.Glu87Asp

Select item 144513691410.

rs1445136914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143992047 (GRCh38)
8:145066215 (GRCh37)
Canonical SPDI:: NC_000008.11:143992046:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_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)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143992047G>A, NC_000008.10:g.145066215G>A, NW_003315923.1:g.330692G>A, NM_000837.2:c.662G>A, NM_000837.1:c.662G>A, NM_001009184.2:c.662G>A, NM_001009184.1:c.662G>A, NP_000828.1:p.Arg221Gln, NP_001009184.1:p.Arg221Gln

Select item 143767591011.

rs1437675910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:143991424 (GRCh38)
8:145065592 (GRCh37)
Canonical SPDI:: NC_000008.11:143991423:G:A,NC_000008.11:143991423:G:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000008.11:g.143991424G>A, NC_000008.11:g.143991424G>T, NC_000008.10:g.145065592G>A, NC_000008.10:g.145065592G>T, NW_003315923.1:g.330069G>A, NW_003315923.1:g.330069G>T, NM_000837.2:c.201G>A, NM_000837.2:c.201G>T, NM_000837.1:c.201G>A, NM_000837.1:c.201G>T, NM_001009184.2:c.201G>A, NM_001009184.2:c.201G>T, NM_001009184.1:c.201G>A, NM_001009184.1:c.201G>T

Select item 143428459412.

rs1434284594 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 8:143992522 (GRCh38)
8:145066690 (GRCh37)
Canonical SPDI:: NC_000008.11:143992519:TCTTC:TC
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143992522_143992524del, NC_000008.10:g.145066690_145066692del, NW_003315923.1:g.331167_331169del, NM_000837.2:c.880_882del, NM_000837.1:c.880_882del, NM_001009184.2:c.880_882del, NM_001009184.1:c.880_882del, NP_000828.1:p.Phe294del, NP_001009184.1:p.Phe294del

Select item 142724307113.

rs1427243071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:143991444 (GRCh38)
8:145065612 (GRCh37)
Canonical SPDI:: NC_000008.11:143991443:A:G,NC_000008.11:143991443:A:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.143991444A>G, NC_000008.11:g.143991444A>T, NC_000008.10:g.145065612A>G, NC_000008.10:g.145065612A>T, NW_003315923.1:g.330089A>G, NW_003315923.1:g.330089A>T, NM_000837.2:c.221A>G, NM_000837.2:c.221A>T, NM_000837.1:c.221A>G, NM_000837.1:c.221A>T, NM_001009184.2:c.221A>G, NM_001009184.2:c.221A>T, NM_001009184.1:c.221A>G, NM_001009184.1:c.221A>T, NP_000828.1:p.Tyr74Cys, NP_000828.1:p.Tyr74Phe, NP_001009184.1:p.Tyr74Cys, NP_001009184.1:p.Tyr74Phe

Select item 141673428614.

rs1416734286 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:143992826 (GRCh38)
8:145066994 (GRCh37)
Canonical SPDI:: NC_000008.11:143992825:CC:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143992827del, NC_000008.10:g.145066995del, NW_003315923.1:g.331472del, NM_000837.2:c.1102del, NM_000837.1:c.1102del, NM_001009184.2:c.1102del, NM_001009184.1:c.1102del, NP_000828.1:p.Arg368fs, NP_001009184.1:p.Arg368fs

Select item 141129115115.

rs1411291151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143991436 (GRCh38)
8:145065604 (GRCh37)
Canonical SPDI:: NC_000008.11:143991435:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143991436G>A, NC_000008.10:g.145065604G>A, NW_003315923.1:g.330081G>A, NM_000837.2:c.213G>A, NM_000837.1:c.213G>A, NM_001009184.2:c.213G>A, NM_001009184.1:c.213G>A

Select item 140950785116.

rs1409507851 has merged into rs782549844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAGAGGGCTACCCACAGGGCCCCTACCC>-,ACAAGAGGGCTACCCACAGGGCCCCTACCCACAAGAGGGCTACCCACAGGGCCCCTACCC [Show Flanks]
Chromosome:: 8:143991478 (GRCh38)
8:145065646 (GRCh37)
Canonical SPDI:: NC_000008.11:143991453:GGGCTACCCACAGGGCCCCTACCCACAAGAGGGCTACCCACAGGGCCCCTACCC:GGGCTACCCACAGGGCCCCTACCC,NC_000008.11:143991453:GGGCTACCCACAGGGCCCCTACCCACAAGAGGGCTACCCACAGGGCCCCTACCC:GGGCTACCCACAGGGCCCCTACCCACAAGAGGGCTACCCACAGGGCCCCTACCCACAAGAGGGCTACCCACAGGGCCCCTACCC
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGCTACCCACAGGGCCCCTACCC=0./0 (ALFA)
-=0./0 (ExAC)
-=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.143991478_143991507del, NC_000008.11:g.143991478_143991507dup, NC_000008.10:g.145065646_145065675del, NC_000008.10:g.145065646_145065675dup, NW_003315923.1:g.330123_330152del, NW_003315923.1:g.330123_330152dup, NM_000837.2:c.255_284del, NM_000837.2:c.255_284dup, NM_000837.1:c.255_284del, NM_000837.1:c.255_284dup, NM_001009184.2:c.255_284del, NM_001009184.2:c.255_284dup, NM_001009184.1:c.255_284del, NM_001009184.1:c.255_284dup, NP_000828.1:p.Glu87_Gln96del, NP_000828.1:p.Glu87_Gln96dup, NP_001009184.1:p.Glu87_Gln96del, NP_001009184.1:p.Glu87_Gln96dup

Select item 140944519217.

rs1409445192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143991785 (GRCh38)
8:145065953 (GRCh37)
Canonical SPDI:: NC_000008.11:143991784:G:A
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143991785G>A, NC_000008.10:g.145065953G>A, NW_003315923.1:g.330430G>A, NM_000837.2:c.473G>A, NM_000837.1:c.473G>A, NM_001009184.2:c.473G>A, NM_001009184.1:c.473G>A, NP_000828.1:p.Arg158Gln, NP_001009184.1:p.Arg158Gln

Select item 140554600618.

rs1405546006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143991357 (GRCh38)
8:145065525 (GRCh37)
Canonical SPDI:: NC_000008.11:143991356:C:T
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143991357C>T, NC_000008.10:g.145065525C>T, NW_003315923.1:g.330002C>T, NM_000837.2:c.134C>T, NM_000837.1:c.134C>T, NM_001009184.2:c.134C>T, NM_001009184.1:c.134C>T, NP_000828.1:p.Pro45Leu, NP_001009184.1:p.Pro45Leu

Select item 139539325519.

rs1395393255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:143991366 (GRCh38)
8:145065534 (GRCh37)
Canonical SPDI:: NC_000008.11:143991365:A:C
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00034/4 (ALFA)
C=0.03409/99 (KOREAN)
HGVS:: NC_000008.11:g.143991366A>C, NC_000008.10:g.145065534A>C, NW_003315923.1:g.330011A>C, NM_000837.2:c.143A>C, NM_000837.1:c.143A>C, NM_001009184.2:c.143A>C, NM_001009184.1:c.143A>C, NP_000828.1:p.Gln48Pro, NP_001009184.1:p.Gln48Pro

Select item 138811761020.

rs1388117610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143991268 (GRCh38)
8:145065436 (GRCh37)
Canonical SPDI:: NC_000008.11:143991267:T:G
Gene:: GRINA (Varview), PARP10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_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_000008.11:g.143991268T>G, NC_000008.10:g.145065436T>G, NG_078771.1:g.408T>G, NW_003315923.1:g.329913T>G, NM_000837.2:c.45T>G, NM_000837.1:c.45T>G, NM_001009184.2:c.45T>G, NM_001009184.1:c.45T>G

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