SNP Links for Protein (Select 1034572418) - SNP

Links from Protein

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Select item 14882139291.

rs1488213929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58837103 (GRCh38)
11:58604576 (GRCh37)
Canonical SPDI:: NC_000011.10:58837102:T:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/10 (GnomAD_exomes)
C=0.000094/25 (TOPMED)
C=0.000178/25 (GnomAD)
HGVS:: NC_000011.10:g.58837103T>C, NC_000011.9:g.58604576T>C, NM_145016.4:c.388A>G, NM_145016.3:c.388A>G, XM_017017338.3:c.388A>G, XM_017017338.2:c.388A>G, XM_017017338.1:c.388A>G, XM_017017337.3:c.388A>G, XM_017017337.2:c.388A>G, XM_017017337.1:c.388A>G, XM_047426545.1:c.265A>G, NP_659453.3:p.Thr130Ala, XP_016872827.1:p.Thr130Ala, XP_016872826.1:p.Thr130Ala, XP_047282501.1:p.Thr89Ala

Select item 14872269552.

rs1487226955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:58834793 (GRCh38)
11:58602266 (GRCh37)
Canonical SPDI:: NC_000011.10:58834792:C:A
Gene:: GLYATL2 (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)
HGVS:: NC_000011.10:g.58834793C>A, NC_000011.9:g.58602266C>A, NM_145016.4:c.521G>T, NM_145016.3:c.521G>T, XM_017017338.3:c.521G>T, XM_017017338.2:c.521G>T, XM_017017338.1:c.521G>T, XM_017017337.3:c.521G>T, XM_017017337.2:c.521G>T, XM_017017337.1:c.521G>T, XM_047426545.1:c.398G>T, NP_659453.3:p.Gly174Val, XP_016872827.1:p.Gly174Val, XP_016872826.1:p.Gly174Val, XP_047282501.1:p.Gly133Val

Select item 14812742943.

rs1481274294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:58834666 (GRCh38)
11:58602139 (GRCh37)
Canonical SPDI:: NC_000011.10:58834665:C:A
Gene:: GLYATL2 (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.58834666C>A, NC_000011.9:g.58602139C>A, NM_145016.4:c.648G>T, NM_145016.3:c.648G>T, XM_017017338.3:c.648G>T, XM_017017338.2:c.648G>T, XM_017017338.1:c.648G>T, XM_017017337.3:c.648G>T, XM_017017337.2:c.648G>T, XM_017017337.1:c.648G>T, XM_047426545.1:c.525G>T

Select item 14742949424.

rs1474294942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:58834727 (GRCh38)
11:58602200 (GRCh37)
Canonical SPDI:: NC_000011.10:58834726:A:C,NC_000011.10:58834726:A:G
Gene:: GLYATL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000677/27 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
G=0.00015/21 (GnomAD)
HGVS:: NC_000011.10:g.58834727A>C, NC_000011.10:g.58834727A>G, NC_000011.9:g.58602200A>C, NC_000011.9:g.58602200A>G, NM_145016.4:c.587T>G, NM_145016.4:c.587T>C, NM_145016.3:c.587T>G, NM_145016.3:c.587T>C, XM_017017338.3:c.587T>G, XM_017017338.3:c.587T>C, XM_017017338.2:c.587T>G, XM_017017338.2:c.587T>C, XM_017017338.1:c.587T>G, XM_017017338.1:c.587T>C, XM_017017337.3:c.587T>G, XM_017017337.3:c.587T>C, XM_017017337.2:c.587T>G, XM_017017337.2:c.587T>C, XM_017017337.1:c.587T>G, XM_017017337.1:c.587T>C, XM_047426545.1:c.464T>G, XM_047426545.1:c.464T>C, NP_659453.3:p.Leu196Arg, NP_659453.3:p.Leu196Pro, XP_016872827.1:p.Leu196Arg, XP_016872827.1:p.Leu196Pro, XP_016872826.1:p.Leu196Arg, XP_016872826.1:p.Leu196Pro, XP_047282501.1:p.Leu155Arg, XP_047282501.1:p.Leu155Pro

Select item 14711938115.

rs1471193811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:58834813 (GRCh38)
11:58602286 (GRCh37)
Canonical SPDI:: NC_000011.10:58834812:G:T
Gene:: GLYATL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58834813G>T, NC_000011.9:g.58602286G>T, NM_145016.4:c.501C>A, NM_145016.3:c.501C>A, XM_017017338.3:c.501C>A, XM_017017338.2:c.501C>A, XM_017017338.1:c.501C>A, XM_017017337.3:c.501C>A, XM_017017337.2:c.501C>A, XM_017017337.1:c.501C>A, XM_047426545.1:c.378C>A, NP_659453.3:p.Phe167Leu, XP_016872827.1:p.Phe167Leu, XP_016872826.1:p.Phe167Leu, XP_047282501.1:p.Phe126Leu

Select item 14646893526.

rs1464689352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:58837284 (GRCh38)
11:58604757 (GRCh37)
Canonical SPDI:: NC_000011.10:58837283:A:T
Gene:: GLYATL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58837284A>T, NC_000011.9:g.58604757A>T, NM_145016.4:c.300T>A, NM_145016.3:c.300T>A, XM_017017338.3:c.300T>A, XM_017017338.2:c.300T>A, XM_017017338.1:c.300T>A, XM_017017337.3:c.300T>A, XM_017017337.2:c.300T>A, XM_017017337.1:c.300T>A, XM_047426545.1:c.177T>A

Select item 14626062897.

rs1462606289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:58839584 (GRCh38)
11:58607057 (GRCh37)
Canonical SPDI:: NC_000011.10:58839583:A:T
Gene:: GLYATL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58839584A>T, NC_000011.9:g.58607057A>T, NM_145016.4:c.29T>A, NM_145016.3:c.29T>A, XM_017017338.3:c.29T>A, XM_017017338.2:c.29T>A, XM_017017338.1:c.29T>A, XM_017017337.3:c.29T>A, XM_017017337.2:c.29T>A, XM_017017337.1:c.29T>A, NP_659453.3:p.Leu10Gln, XP_016872827.1:p.Leu10Gln, XP_016872826.1:p.Leu10Gln

Select item 14620218368.

rs1462021836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58834671 (GRCh38)
11:58602144 (GRCh37)
Canonical SPDI:: NC_000011.10:58834670:T:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58834671T>C, NC_000011.9:g.58602144T>C, NM_145016.4:c.643A>G, NM_145016.3:c.643A>G, XM_017017338.3:c.643A>G, XM_017017338.2:c.643A>G, XM_017017338.1:c.643A>G, XM_017017337.3:c.643A>G, XM_017017337.2:c.643A>G, XM_017017337.1:c.643A>G, XM_047426545.1:c.520A>G, NP_659453.3:p.Ile215Val, XP_016872827.1:p.Ile215Val, XP_016872826.1:p.Ile215Val, XP_047282501.1:p.Ile174Val

Select item 14575798419.

rs1457579841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:58839546 (GRCh38)
11:58607019 (GRCh37)
Canonical SPDI:: NC_000011.10:58839545:C:G
Gene:: GLYATL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58839546C>G, NC_000011.9:g.58607019C>G, NM_145016.4:c.67G>C, NM_145016.3:c.67G>C, XM_017017338.3:c.67G>C, XM_017017338.2:c.67G>C, XM_017017338.1:c.67G>C, XM_017017337.3:c.67G>C, XM_017017337.2:c.67G>C, XM_017017337.1:c.67G>C, NP_659453.3:p.Glu23Gln, XP_016872827.1:p.Glu23Gln, XP_016872826.1:p.Glu23Gln

Select item 145597647310.

rs1455976473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58837144 (GRCh38)
11:58604617 (GRCh37)
Canonical SPDI:: NC_000011.10:58837143:T:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58837144T>C, NC_000011.9:g.58604617T>C, NM_145016.4:c.347A>G, NM_145016.3:c.347A>G, XM_017017338.3:c.347A>G, XM_017017338.2:c.347A>G, XM_017017338.1:c.347A>G, XM_017017337.3:c.347A>G, XM_017017337.2:c.347A>G, XM_017017337.1:c.347A>G, XM_047426545.1:c.224A>G, NP_659453.3:p.Lys116Arg, XP_016872827.1:p.Lys116Arg, XP_016872826.1:p.Lys116Arg, XP_047282501.1:p.Lys75Arg

Select item 145138731511.

rs1451387315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:58839554 (GRCh38)
11:58607027 (GRCh37)
Canonical SPDI:: NC_000011.10:58839553:C:G,NC_000011.10:58839553:C:T
Gene:: GLYATL2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58839554C>G, NC_000011.10:g.58839554C>T, NC_000011.9:g.58607027C>G, NC_000011.9:g.58607027C>T, NM_145016.4:c.59G>C, NM_145016.4:c.59G>A, NM_145016.3:c.59G>C, NM_145016.3:c.59G>A, XM_017017338.3:c.59G>C, XM_017017338.3:c.59G>A, XM_017017338.2:c.59G>C, XM_017017338.2:c.59G>A, XM_017017338.1:c.59G>C, XM_017017338.1:c.59G>A, XM_017017337.3:c.59G>C, XM_017017337.3:c.59G>A, XM_017017337.2:c.59G>C, XM_017017337.2:c.59G>A, XM_017017337.1:c.59G>C, XM_017017337.1:c.59G>A, NP_659453.3:p.Ser20Thr, NP_659453.3:p.Ser20Asn, XP_016872827.1:p.Ser20Thr, XP_016872827.1:p.Ser20Asn, XP_016872826.1:p.Ser20Thr, XP_016872826.1:p.Ser20Asn

Select item 144685197212.

rs1446851972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58838280 (GRCh38)
11:58605753 (GRCh37)
Canonical SPDI:: NC_000011.10:58838279:A:G
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58838280A>G, NC_000011.9:g.58605753A>G, NM_145016.4:c.167T>C, NM_145016.3:c.167T>C, XM_017017338.3:c.167T>C, XM_017017338.2:c.167T>C, XM_017017338.1:c.167T>C, XM_017017337.3:c.167T>C, XM_017017337.2:c.167T>C, XM_017017337.1:c.167T>C, XM_047426545.1:c.44T>C, NP_659453.3:p.Ile56Thr, XP_016872827.1:p.Ile56Thr, XP_016872826.1:p.Ile56Thr, XP_047282501.1:p.Ile15Thr

Select item 144416466613.

rs1444164666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:58834447 (GRCh38)
11:58601920 (GRCh37)
Canonical SPDI:: NC_000011.10:58834446:G:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58834447G>C, NC_000011.9:g.58601920G>C, NM_145016.4:c.867C>G, NM_145016.3:c.867C>G, XM_017017338.3:c.867C>G, XM_017017338.2:c.867C>G, XM_017017338.1:c.867C>G, XM_017017337.3:c.867C>G, XM_017017337.2:c.867C>G, XM_017017337.1:c.867C>G, XM_047426545.1:c.744C>G

Select item 144278002814.

rs1442780028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58838262 (GRCh38)
11:58605735 (GRCh37)
Canonical SPDI:: NC_000011.10:58838261:T:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.58838262T>C, NC_000011.9:g.58605735T>C, NM_145016.4:c.185A>G, NM_145016.3:c.185A>G, XM_017017338.3:c.185A>G, XM_017017338.2:c.185A>G, XM_017017338.1:c.185A>G, XM_017017337.3:c.185A>G, XM_017017337.2:c.185A>G, XM_017017337.1:c.185A>G, XM_047426545.1:c.62A>G, NP_659453.3:p.Gln62Arg, XP_016872827.1:p.Gln62Arg, XP_016872826.1:p.Gln62Arg, XP_047282501.1:p.Gln21Arg

Select item 143652548815.

rs1436525488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:58837148 (GRCh38)
11:58604621 (GRCh37)
Canonical SPDI:: NC_000011.10:58837147:T:G
Gene:: GLYATL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58837148T>G, NC_000011.9:g.58604621T>G, NM_145016.4:c.343A>C, NM_145016.3:c.343A>C, XM_017017338.3:c.343A>C, XM_017017338.2:c.343A>C, XM_017017338.1:c.343A>C, XM_017017337.3:c.343A>C, XM_017017337.2:c.343A>C, XM_017017337.1:c.343A>C, XM_047426545.1:c.220A>C

Select item 143520092616.

rs1435200926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58834442 (GRCh38)
11:58601915 (GRCh37)
Canonical SPDI:: NC_000011.10:58834441:T:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58834442T>C, NC_000011.9:g.58601915T>C, NM_145016.4:c.872A>G, NM_145016.3:c.872A>G, XM_017017338.3:c.872A>G, XM_017017338.2:c.872A>G, XM_017017338.1:c.872A>G, XM_017017337.3:c.872A>G, XM_017017337.2:c.872A>G, XM_017017337.1:c.872A>G, XM_047426545.1:c.749A>G, NP_659453.3:p.Lys291Arg, XP_016872827.1:p.Lys291Arg, XP_016872826.1:p.Lys291Arg, XP_047282501.1:p.Lys250Arg

Select item 143344784017.

rs1433447840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:58834684 (GRCh38)
11:58602157 (GRCh37)
Canonical SPDI:: NC_000011.10:58834683:C:A,NC_000011.10:58834683:C:T
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58834684C>A, NC_000011.10:g.58834684C>T, NC_000011.9:g.58602157C>A, NC_000011.9:g.58602157C>T, NM_145016.4:c.630G>T, NM_145016.4:c.630G>A, NM_145016.3:c.630G>T, NM_145016.3:c.630G>A, XM_017017338.3:c.630G>T, XM_017017338.3:c.630G>A, XM_017017338.2:c.630G>T, XM_017017338.2:c.630G>A, XM_017017338.1:c.630G>T, XM_017017338.1:c.630G>A, XM_017017337.3:c.630G>T, XM_017017337.3:c.630G>A, XM_017017337.2:c.630G>T, XM_017017337.2:c.630G>A, XM_017017337.1:c.630G>T, XM_017017337.1:c.630G>A, XM_047426545.1:c.507G>T, XM_047426545.1:c.507G>A, NP_659453.3:p.Gln210His, XP_016872827.1:p.Gln210His, XP_016872826.1:p.Gln210His, XP_047282501.1:p.Gln169His

Select item 143305078118.

rs1433050781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:58837053 (GRCh38)
11:58604526 (GRCh37)
Canonical SPDI:: NC_000011.10:58837052:A:C
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58837053A>C, NC_000011.9:g.58604526A>C, NM_145016.4:c.438T>G, NM_145016.3:c.438T>G, XM_017017338.3:c.438T>G, XM_017017338.2:c.438T>G, XM_017017338.1:c.438T>G, XM_017017337.3:c.438T>G, XM_017017337.2:c.438T>G, XM_017017337.1:c.438T>G, XM_047426545.1:c.315T>G, NP_659453.3:p.Asn146Lys, XP_016872827.1:p.Asn146Lys, XP_016872826.1:p.Asn146Lys, XP_047282501.1:p.Asn105Lys

Select item 143260855119.

rs1432608551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58834618 (GRCh38)
11:58602091 (GRCh37)
Canonical SPDI:: NC_000011.10:58834617:G:A
Gene:: GLYATL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000011.10:g.58834618G>A, NC_000011.9:g.58602091G>A, NM_145016.4:c.696C>T, NM_145016.3:c.696C>T, XM_017017338.3:c.696C>T, XM_017017338.2:c.696C>T, XM_017017338.1:c.696C>T, XM_017017337.3:c.696C>T, XM_017017337.2:c.696C>T, XM_017017337.1:c.696C>T, XM_047426545.1:c.573C>T

Select item 142883040520.

rs1428830405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:58834436 (GRCh38)
11:58601909 (GRCh37)
Canonical SPDI:: NC_000011.10:58834435:T:A
Gene:: GLYATL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58834436T>A, NC_000011.9:g.58601909T>A, NM_145016.4:c.878A>T, NM_145016.3:c.878A>T, XM_017017338.3:c.878A>T, XM_017017338.2:c.878A>T, XM_017017338.1:c.878A>T, XM_017017337.3:c.878A>T, XM_017017337.2:c.878A>T, XM_017017337.1:c.878A>T, XM_047426545.1:c.755A>T, NP_659453.3:p.Tyr293Phe, XP_016872827.1:p.Tyr293Phe, XP_016872826.1:p.Tyr293Phe, XP_047282501.1:p.Tyr252Phe

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