SNP Links for Protein (Select 223972653) - SNP

Links from Protein

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Select item 14909734981.

rs1490973498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49461741 (GRCh38)
19:49964998 (GRCh37)
Canonical SPDI:: NC_000019.10:49461740:G:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49461741G>T, NC_000019.9:g.49964998G>T, NG_012747.1:g.13526G>T, NM_153329.4:c.700G>T, NM_153329.3:c.700G>T, NM_001145396.2:c.700G>T, NM_001145396.1:c.700G>T, XM_047438163.1:c.613G>T, XM_011526441.1:c.613G>T, NP_699160.2:p.Val234Leu, NP_001138868.1:p.Val234Leu, XP_047294119.1:p.Val205Leu, XP_011524743.1:p.Val205Leu

Select item 14904805882.

rs1490480588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49460899 (GRCh38)
19:49964156 (GRCh37)
Canonical SPDI:: NC_000019.10:49460898:G:A,NC_000019.10:49460898:G:C
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49460899G>A, NC_000019.10:g.49460899G>C, NC_000019.9:g.49964156G>A, NC_000019.9:g.49964156G>C, NG_012747.1:g.12684G>A, NG_012747.1:g.12684G>C, NM_153329.4:c.577G>A, NM_153329.4:c.577G>C, NM_153329.3:c.577G>A, NM_153329.3:c.577G>C, NM_001145396.2:c.577G>A, NM_001145396.2:c.577G>C, NM_001145396.1:c.577G>A, NM_001145396.1:c.577G>C, XM_047438163.1:c.490G>A, XM_047438163.1:c.490G>C, XM_011526441.1:c.490G>A, XM_011526441.1:c.490G>C, NP_699160.2:p.Gly193Ser, NP_699160.2:p.Gly193Arg, NP_001138868.1:p.Gly193Ser, NP_001138868.1:p.Gly193Arg, XP_047294119.1:p.Gly164Ser, XP_047294119.1:p.Gly164Arg, XP_011524743.1:p.Gly164Ser, XP_011524743.1:p.Gly164Arg

Select item 14817358503.

rs1481735850 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:49461706 (GRCh38)
19:49964964 (GRCh37)
Canonical SPDI:: NC_000019.10:49461706::T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49461706_49461707insT, NC_000019.9:g.49964963_49964964insT, NG_012747.1:g.13491_13492insT, NM_153329.4:c.665_666insT, NM_153329.3:c.665_666insT, NM_001145396.2:c.665_666insT, NM_001145396.1:c.665_666insT, XM_047438163.1:c.578_579insT, XM_011526441.1:c.578_579insT, NP_699160.2:p.Ile223fs, NP_001138868.1:p.Ile223fs, XP_047294119.1:p.Ile194fs, XP_011524743.1:p.Ile194fs

Select item 14796541774.

rs1479654177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49461746 (GRCh38)
19:49965003 (GRCh37)
Canonical SPDI:: NC_000019.10:49461745:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49461746C>T, NC_000019.9:g.49965003C>T, NG_012747.1:g.13531C>T, NM_153329.4:c.705C>T, NM_153329.3:c.705C>T, NM_001145396.2:c.705C>T, NM_001145396.1:c.705C>T, XM_047438163.1:c.618C>T, XM_011526441.1:c.618C>T

Select item 14786951545.

rs1478695154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49463933 (GRCh38)
19:49967190 (GRCh37)
Canonical SPDI:: NC_000019.10:49463932:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.49463933C>T, NC_000019.9:g.49967190C>T, NG_012747.1:g.15718C>T, NM_153329.4:c.1178C>T, NM_153329.3:c.1178C>T, NM_001145396.2:c.1025C>T, NM_001145396.1:c.1025C>T, XM_047438163.1:c.1091C>T, XM_011526441.1:c.1091C>T, NP_699160.2:p.Pro393Leu, NP_001138868.1:p.Pro342Leu, XP_047294119.1:p.Pro364Leu, XP_011524743.1:p.Pro364Leu

Select item 14757509256.

rs1475750925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49466111 (GRCh38)
19:49969368 (GRCh37)
Canonical SPDI:: NC_000019.10:49466110:C:A
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000033/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49466111C>A, NC_000019.9:g.49969368C>A, NG_012747.1:g.17896C>A, NM_153329.4:c.1766C>A, NM_153329.3:c.1766C>A, NM_001145396.2:c.1613C>A, NM_001145396.1:c.1613C>A, XM_047438163.1:c.1679C>A, XM_011526441.1:c.1679C>A, NP_699160.2:p.Ala589Glu, NP_001138868.1:p.Ala538Glu, XP_047294119.1:p.Ala560Glu, XP_011524743.1:p.Ala560Glu

Select item 14753852747.

rs1475385274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49468382 (GRCh38)
19:49971639 (GRCh37)
Canonical SPDI:: NC_000019.10:49468381:T:C
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49468382T>C, NC_000019.9:g.49971639T>C, NG_012747.1:g.20167T>C, NM_153329.4:c.1940T>C, NM_153329.3:c.1940T>C, NM_001145396.2:c.1787T>C, NM_001145396.1:c.1787T>C, XM_047438163.1:c.1853T>C, XM_011526441.1:c.1853T>C, NP_699160.2:p.Val647Ala, NP_001138868.1:p.Val596Ala, XP_047294119.1:p.Val618Ala, XP_011524743.1:p.Val618Ala

Select item 14750011408.

rs1475001140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49468388 (GRCh38)
19:49971645 (GRCh37)
Canonical SPDI:: NC_000019.10:49468387:G:A
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.49468388G>A, NC_000019.9:g.49971645G>A, NG_012747.1:g.20173G>A, NM_153329.4:c.1946G>A, NM_153329.3:c.1946G>A, NM_001145396.2:c.1793G>A, NM_001145396.1:c.1793G>A, XM_047438163.1:c.1859G>A, XM_011526441.1:c.1859G>A, NP_699160.2:p.Gly649Glu, NP_001138868.1:p.Gly598Glu, XP_047294119.1:p.Gly620Glu, XP_011524743.1:p.Gly620Glu

Select item 14748521499.

rs1474852149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49463859 (GRCh38)
19:49967116 (GRCh37)
Canonical SPDI:: NC_000019.10:49463858:C:G
Gene:: ALDH16A1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49463859C>G, NC_000019.9:g.49967116C>G, NG_012747.1:g.15644C>G, NM_153329.4:c.1104C>G, NM_153329.3:c.1104C>G, NM_001145396.2:c.951C>G, NM_001145396.1:c.951C>G, XM_047438163.1:c.1017C>G, XM_011526441.1:c.1017C>G, NP_699160.2:p.Phe368Leu, NP_001138868.1:p.Phe317Leu, XP_047294119.1:p.Phe339Leu, XP_011524743.1:p.Phe339Leu

Select item 147364203210.

rs1473642032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49464178 (GRCh38)
19:49967435 (GRCh37)
Canonical SPDI:: NC_000019.10:49464177:C:G,NC_000019.10:49464177:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49464178C>G, NC_000019.10:g.49464178C>T, NC_000019.9:g.49967435C>G, NC_000019.9:g.49967435C>T, NG_012747.1:g.15963C>G, NG_012747.1:g.15963C>T, NM_153329.4:c.1246C>G, NM_153329.4:c.1246C>T, NM_153329.3:c.1246C>G, NM_153329.3:c.1246C>T, NM_001145396.2:c.1093C>G, NM_001145396.2:c.1093C>T, NM_001145396.1:c.1093C>G, NM_001145396.1:c.1093C>T, XM_047438163.1:c.1159C>G, XM_047438163.1:c.1159C>T, XM_011526441.1:c.1159C>G, XM_011526441.1:c.1159C>T, NP_699160.2:p.Leu416Val, NP_001138868.1:p.Leu365Val, XP_047294119.1:p.Leu387Val, XP_011524743.1:p.Leu387Val

Select item 147277327311.

rs1472773273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49463922 (GRCh38)
19:49967179 (GRCh37)
Canonical SPDI:: NC_000019.10:49463921:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49463922C>T, NC_000019.9:g.49967179C>T, NG_012747.1:g.15707C>T, NM_153329.4:c.1167C>T, NM_153329.3:c.1167C>T, NM_001145396.2:c.1014C>T, NM_001145396.1:c.1014C>T, XM_047438163.1:c.1080C>T, XM_011526441.1:c.1080C>T

Select item 147257507412.

rs1472575074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49453405 (GRCh38)
19:49956662 (GRCh37)
Canonical SPDI:: NC_000019.10:49453404:G:A
Gene:: PIH1D1 (Varview), ALDH16A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.49453405G>A, NC_000019.9:g.49956662G>A, NG_012747.1:g.5190G>A, NM_153329.4:c.74G>A, NM_153329.3:c.74G>A, NM_001145396.2:c.74G>A, NM_001145396.1:c.74G>A, XM_047438163.1:c.-125G>A, NP_699160.2:p.Ser25Asn, NP_001138868.1:p.Ser25Asn

Select item 147113328613.

rs1471133286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49468921 (GRCh38)
19:49972178 (GRCh37)
Canonical SPDI:: NC_000019.10:49468920:C:G,NC_000019.10:49468920:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49468921C>G, NC_000019.10:g.49468921C>T, NC_000019.9:g.49972178C>G, NC_000019.9:g.49972178C>T, NG_012747.1:g.20706C>G, NG_012747.1:g.20706C>T, NM_153329.4:c.2182C>G, NM_153329.4:c.2182C>T, NM_153329.3:c.2182C>G, NM_153329.3:c.2182C>T, NM_001145396.2:c.2029C>G, NM_001145396.2:c.2029C>T, NM_001145396.1:c.2029C>G, NM_001145396.1:c.2029C>T, XM_047438163.1:c.2095C>G, XM_047438163.1:c.2095C>T, XM_011526441.1:c.2095C>G, XM_011526441.1:c.2095C>T, NP_699160.2:p.His728Asp, NP_699160.2:p.His728Tyr, NP_001138868.1:p.His677Asp, NP_001138868.1:p.His677Tyr, XP_047294119.1:p.His699Asp, XP_047294119.1:p.His699Tyr, XP_011524743.1:p.His699Asp, XP_011524743.1:p.His699Tyr

Select item 146991059914.

rs1469910599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49466154 (GRCh38)
19:49969411 (GRCh37)
Canonical SPDI:: NC_000019.10:49466153:G:A,NC_000019.10:49466153:G:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49466154G>A, NC_000019.10:g.49466154G>T, NC_000019.9:g.49969411G>A, NC_000019.9:g.49969411G>T, NG_012747.1:g.17939G>A, NG_012747.1:g.17939G>T, NM_153329.4:c.1809G>A, NM_153329.4:c.1809G>T, NM_153329.3:c.1809G>A, NM_153329.3:c.1809G>T, NM_001145396.2:c.1656G>A, NM_001145396.2:c.1656G>T, NM_001145396.1:c.1656G>A, NM_001145396.1:c.1656G>T, XM_047438163.1:c.1722G>A, XM_047438163.1:c.1722G>T, XM_011526441.1:c.1722G>A, XM_011526441.1:c.1722G>T, NP_699160.2:p.Lys603Asn, NP_001138868.1:p.Lys552Asn, XP_047294119.1:p.Lys574Asn, XP_011524743.1:p.Lys574Asn

Select item 146983593915.

rs1469835939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49461754 (GRCh38)
19:49965011 (GRCh37)
Canonical SPDI:: NC_000019.10:49461753:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49461754C>T, NC_000019.9:g.49965011C>T, NG_012747.1:g.13539C>T, NM_153329.4:c.713C>T, NM_153329.3:c.713C>T, NM_001145396.2:c.713C>T, NM_001145396.1:c.713C>T, XM_047438163.1:c.626C>T, XM_011526441.1:c.626C>T, NP_699160.2:p.Ala238Val, NP_001138868.1:p.Ala238Val, XP_047294119.1:p.Ala209Val, XP_011524743.1:p.Ala209Val

Select item 146932519216.

rs1469325192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49468486 (GRCh38)
19:49971743 (GRCh37)
Canonical SPDI:: NC_000019.10:49468485:G:A
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.49468486G>A, NC_000019.9:g.49971743G>A, NG_012747.1:g.20271G>A, NM_153329.4:c.2044G>A, NM_153329.3:c.2044G>A, NM_001145396.2:c.1891G>A, NM_001145396.1:c.1891G>A, XM_047438163.1:c.1957G>A, XM_011526441.1:c.1957G>A, NP_699160.2:p.Ala682Thr, NP_001138868.1:p.Ala631Thr, XP_047294119.1:p.Ala653Thr, XP_011524743.1:p.Ala653Thr

Select item 146751516117.

rs1467515161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49464639 (GRCh38)
19:49967896 (GRCh37)
Canonical SPDI:: NC_000019.10:49464638:A:C,NC_000019.10:49464638:A:G
Gene:: ALDH16A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.49464639A>C, NC_000019.10:g.49464639A>G, NC_000019.9:g.49967896A>C, NC_000019.9:g.49967896A>G, NG_012747.1:g.16424A>C, NG_012747.1:g.16424A>G, NM_153329.4:c.1445A>C, NM_153329.4:c.1445A>G, NM_153329.3:c.1445A>C, NM_153329.3:c.1445A>G, NM_001145396.2:c.1292A>C, NM_001145396.2:c.1292A>G, NM_001145396.1:c.1292A>C, NM_001145396.1:c.1292A>G, XM_047438163.1:c.1358A>C, XM_047438163.1:c.1358A>G, XM_011526441.1:c.1358A>C, XM_011526441.1:c.1358A>G, NP_699160.2:p.Tyr482Ser, NP_699160.2:p.Tyr482Cys, NP_001138868.1:p.Tyr431Ser, NP_001138868.1:p.Tyr431Cys, XP_047294119.1:p.Tyr453Ser, XP_047294119.1:p.Tyr453Cys, XP_011524743.1:p.Tyr453Ser, XP_011524743.1:p.Tyr453Cys

Select item 146653460918.

rs1466534609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:49458558 (GRCh38)
19:49961815 (GRCh37)
Canonical SPDI:: NC_000019.10:49458557:A:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49458558A>T, NC_000019.9:g.49961815A>T, NG_012747.1:g.10343A>T, NM_153329.4:c.163A>T, NM_153329.3:c.163A>T, NM_001145396.2:c.163A>T, NM_001145396.1:c.163A>T, XM_047438163.1:c.76A>T, XM_011526441.1:c.76A>T, NP_699160.2:p.Asn55Tyr, NP_001138868.1:p.Asn55Tyr, XP_047294119.1:p.Asn26Tyr, XP_011524743.1:p.Asn26Tyr

Select item 146653200919.

rs1466532009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49458500 (GRCh38)
19:49961757 (GRCh37)
Canonical SPDI:: NC_000019.10:49458499:C:T
Gene:: ALDH16A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.49458500C>T, NC_000019.9:g.49961757C>T, NG_012747.1:g.10285C>T, NM_153329.4:c.105C>T, NM_153329.3:c.105C>T, NM_001145396.2:c.105C>T, NM_001145396.1:c.105C>T, XM_047438163.1:c.18C>T, XM_011526441.1:c.18C>T

Select item 146633842720.

rs1466338427 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAACGCCCATTC>- [Show Flanks]
Chromosome:: 19:49463880 (GRCh38)
19:49967137 (GRCh37)
Canonical SPDI:: NC_000019.10:49463876:TTCGGAACGCCCATTC:TTC
Gene:: ALDH16A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTC=0./0 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.49463880_49463892del, NC_000019.9:g.49967137_49967149del, NG_012747.1:g.15665_15677del, NM_153329.4:c.1125_1137del, NM_153329.3:c.1125_1137del, NM_001145396.2:c.972_984del, NM_001145396.1:c.972_984del, XM_047438163.1:c.1038_1050del, XM_011526441.1:c.1038_1050del, NP_699160.2:p.Glu376fs, NP_001138868.1:p.Glu325fs, XP_047294119.1:p.Glu347fs, XP_011524743.1:p.Glu347fs

dbSNP

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