SNP Links for Protein (Select 31563518) - SNP

Links from Protein

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Select item 14883024981.

rs1488302498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34559812 (GRCh38)
20:33147616 (GRCh37)
Canonical SPDI:: NC_000020.11:34559811:C:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_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_000020.11:g.34559812C>G, NC_000020.10:g.33147616C>G, NG_011497.1:g.122474G>C, NM_032514.4:c.280C>G, NM_032514.3:c.280C>G, XM_011529085.3:c.463C>G, XM_011529085.2:c.463C>G, XM_011529085.1:c.463C>G, XM_011529084.3:c.586C>G, XM_011529084.2:c.586C>G, XM_011529084.1:c.586C>G, NM_181509.3:c.292C>G, NM_181509.2:c.292C>G, XM_047440559.1:c.280C>G, XM_047440558.1:c.280C>G, NP_115903.1:p.Pro94Ala, XP_011527387.1:p.Pro155Ala, XP_011527386.1:p.Pro196Ala, NP_852610.1:p.Pro98Ala, XP_047296515.1:p.Pro94Ala, XP_047296514.1:p.Pro94Ala

Select item 14851176372.

rs1485117637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34559753 (GRCh38)
20:33147557 (GRCh37)
Canonical SPDI:: NC_000020.11:34559752:A:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.34559753A>G, NC_000020.10:g.33147557A>G, NG_011497.1:g.122533T>C, NM_032514.4:c.221A>G, NM_032514.3:c.221A>G, XM_011529085.3:c.404A>G, XM_011529085.2:c.404A>G, XM_011529085.1:c.404A>G, XM_011529084.3:c.527A>G, XM_011529084.2:c.527A>G, XM_011529084.1:c.527A>G, NM_181509.3:c.233A>G, NM_181509.2:c.233A>G, XM_047440559.1:c.221A>G, XM_047440558.1:c.221A>G, NP_115903.1:p.Asn74Ser, XP_011527387.1:p.Asn135Ser, XP_011527386.1:p.Asn176Ser, NP_852610.1:p.Asn78Ser, XP_047296515.1:p.Asn74Ser, XP_047296514.1:p.Asn74Ser

Select item 14813385543.

rs1481338554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:34559786 (GRCh38)
20:33147590 (GRCh37)
Canonical SPDI:: NC_000020.11:34559785:A:C
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.34559786A>C, NC_000020.10:g.33147590A>C, NG_011497.1:g.122500T>G, NM_032514.4:c.254A>C, NM_032514.3:c.254A>C, XM_011529085.3:c.437A>C, XM_011529085.2:c.437A>C, XM_011529085.1:c.437A>C, XM_011529084.3:c.560A>C, XM_011529084.2:c.560A>C, XM_011529084.1:c.560A>C, NM_181509.3:c.266A>C, NM_181509.2:c.266A>C, XM_047440559.1:c.254A>C, XM_047440558.1:c.254A>C, NP_115903.1:p.Gln85Pro, XP_011527387.1:p.Gln146Pro, XP_011527386.1:p.Gln187Pro, NP_852610.1:p.Gln89Pro, XP_047296515.1:p.Gln85Pro, XP_047296514.1:p.Gln85Pro

Select item 14756783434.

rs1475678343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34559368 (GRCh38)
20:33147172 (GRCh37)
Canonical SPDI:: NC_000020.11:34559367:G:A
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.34559368G>A, NC_000020.10:g.33147172G>A, NG_011497.1:g.122918C>T, NM_032514.4:c.118G>A, NM_032514.3:c.118G>A, XM_011529085.3:c.301G>A, XM_011529085.2:c.301G>A, XM_011529085.1:c.301G>A, XM_011529084.3:c.424G>A, XM_011529084.2:c.424G>A, XM_011529084.1:c.424G>A, NM_181509.3:c.130G>A, NM_181509.2:c.130G>A, XM_047440559.1:c.118G>A, XM_047440558.1:c.118G>A, NP_115903.1:p.Gly40Ser, XP_011527387.1:p.Gly101Ser, XP_011527386.1:p.Gly142Ser, NP_852610.1:p.Gly44Ser, XP_047296515.1:p.Gly40Ser, XP_047296514.1:p.Gly40Ser

Select item 14552414075.

rs1455241407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34559391 (GRCh38)
20:33147195 (GRCh37)
Canonical SPDI:: NC_000020.11:34559390:G:A
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34559391G>A, NC_000020.10:g.33147195G>A, NG_011497.1:g.122895C>T, NM_032514.4:c.141G>A, NM_032514.3:c.141G>A, XM_011529085.3:c.324G>A, XM_011529085.2:c.324G>A, XM_011529085.1:c.324G>A, XM_011529084.3:c.447G>A, XM_011529084.2:c.447G>A, XM_011529084.1:c.447G>A, NM_181509.3:c.153G>A, NM_181509.2:c.153G>A, XM_047440559.1:c.141G>A, XM_047440558.1:c.141G>A

Select item 14533480896.

rs1453348089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34559885 (GRCh38)
20:33147689 (GRCh37)
Canonical SPDI:: NC_000020.11:34559884:C:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34559885C>G, NC_000020.10:g.33147689C>G, NG_011497.1:g.122401G>C, NM_032514.4:c.353C>G, NM_032514.3:c.353C>G, XM_011529085.3:c.536C>G, XM_011529085.2:c.536C>G, XM_011529085.1:c.536C>G, XM_011529084.3:c.659C>G, XM_011529084.2:c.659C>G, XM_011529084.1:c.659C>G, NM_181509.3:c.365C>G, NM_181509.2:c.365C>G, XM_047440559.1:c.353C>G, XM_047440558.1:c.353C>G, NP_115903.1:p.Thr118Ser, XP_011527387.1:p.Thr179Ser, XP_011527386.1:p.Thr220Ser, NP_852610.1:p.Thr122Ser, XP_047296515.1:p.Thr118Ser, XP_047296514.1:p.Thr118Ser

Select item 14527292357.

rs1452729235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:34559849 (GRCh38)
20:33147653 (GRCh37)
Canonical SPDI:: NC_000020.11:34559848:A:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34559849A>T, NC_000020.10:g.33147653A>T, NG_011497.1:g.122437T>A, NM_032514.4:c.317A>T, NM_032514.3:c.317A>T, XM_011529085.3:c.500A>T, XM_011529085.2:c.500A>T, XM_011529085.1:c.500A>T, XM_011529084.3:c.623A>T, XM_011529084.2:c.623A>T, XM_011529084.1:c.623A>T, NM_181509.3:c.329A>T, NM_181509.2:c.329A>T, XM_047440559.1:c.317A>T, XM_047440558.1:c.317A>T, NP_115903.1:p.Asp106Val, XP_011527387.1:p.Asp167Val, XP_011527386.1:p.Asp208Val, NP_852610.1:p.Asp110Val, XP_047296515.1:p.Asp106Val, XP_047296514.1:p.Asp106Val

Select item 14524068378.

rs1452406837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:34559834 (GRCh38)
20:33147638 (GRCh37)
Canonical SPDI:: NC_000020.11:34559833:A:C,NC_000020.11:34559833:A:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34559834A>C, NC_000020.11:g.34559834A>G, NC_000020.10:g.33147638A>C, NC_000020.10:g.33147638A>G, NG_011497.1:g.122452T>G, NG_011497.1:g.122452T>C, NM_032514.4:c.302A>C, NM_032514.4:c.302A>G, NM_032514.3:c.302A>C, NM_032514.3:c.302A>G, XM_011529085.3:c.485A>C, XM_011529085.3:c.485A>G, XM_011529085.2:c.485A>C, XM_011529085.2:c.485A>G, XM_011529085.1:c.485A>C, XM_011529085.1:c.485A>G, XM_011529084.3:c.608A>C, XM_011529084.3:c.608A>G, XM_011529084.2:c.608A>C, XM_011529084.2:c.608A>G, XM_011529084.1:c.608A>C, XM_011529084.1:c.608A>G, NM_181509.3:c.314A>C, NM_181509.3:c.314A>G, NM_181509.2:c.314A>C, NM_181509.2:c.314A>G, XM_047440559.1:c.302A>C, XM_047440559.1:c.302A>G, XM_047440558.1:c.302A>C, XM_047440558.1:c.302A>G, NP_115903.1:p.Gln101Pro, NP_115903.1:p.Gln101Arg, XP_011527387.1:p.Gln162Pro, XP_011527387.1:p.Gln162Arg, XP_011527386.1:p.Gln203Pro, XP_011527386.1:p.Gln203Arg, NP_852610.1:p.Gln105Pro, NP_852610.1:p.Gln105Arg, XP_047296515.1:p.Gln101Pro, XP_047296515.1:p.Gln101Arg, XP_047296514.1:p.Gln101Pro, XP_047296514.1:p.Gln101Arg

Select item 14490649719.

rs1449064971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:34550000 (GRCh38)
20:33137804 (GRCh37)
Canonical SPDI:: NC_000020.11:34549999:C:G,NC_000020.11:34549999:C:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.34550000C>G, NC_000020.11:g.34550000C>T, NC_000020.10:g.33137804C>G, NC_000020.10:g.33137804C>T, XM_011529085.3:c.23C>G, XM_011529085.3:c.23C>T, XM_011529085.2:c.23C>G, XM_011529085.2:c.23C>T, XM_011529085.1:c.23C>G, XM_011529085.1:c.23C>T, XM_011529084.3:c.23C>G, XM_011529084.3:c.23C>T, XM_011529084.2:c.23C>G, XM_011529084.2:c.23C>T, XM_011529084.1:c.23C>G, XM_011529084.1:c.23C>T, NM_181509.3:c.23C>G, NM_181509.3:c.23C>T, NM_181509.2:c.23C>G, NM_181509.2:c.23C>T, XP_011527387.1:p.Ser8Cys, XP_011527387.1:p.Ser8Phe, XP_011527386.1:p.Ser8Cys, XP_011527386.1:p.Ser8Phe, NP_852610.1:p.Ser8Cys, NP_852610.1:p.Ser8Phe

Select item 144738117210.

rs1447381172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34559453 (GRCh38)
20:33147257 (GRCh37)
Canonical SPDI:: NC_000020.11:34559452:G:A
Gene:: MAP1LC3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.34559453G>A, NC_000020.10:g.33147257G>A, NG_011497.1:g.122833C>T, NM_032514.4:c.203G>A, NM_032514.3:c.203G>A, XM_011529085.3:c.386G>A, XM_011529085.2:c.386G>A, XM_011529085.1:c.386G>A, XM_011529084.3:c.509G>A, XM_011529084.2:c.509G>A, XM_011529084.1:c.509G>A, NM_181509.3:c.215G>A, NM_181509.2:c.215G>A, XM_047440559.1:c.203G>A, XM_047440558.1:c.203G>A, NP_115903.1:p.Arg68Gln, XP_011527387.1:p.Arg129Gln, XP_011527386.1:p.Arg170Gln, NP_852610.1:p.Arg72Gln, XP_047296515.1:p.Arg68Gln, XP_047296514.1:p.Arg68Gln

Select item 144618116611.

rs1446181166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:34559352 (GRCh38)
20:33147156 (GRCh37)
Canonical SPDI:: NC_000020.11:34559351:C:A,NC_000020.11:34559351:C:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34559352C>A, NC_000020.11:g.34559352C>T, NC_000020.10:g.33147156C>A, NC_000020.10:g.33147156C>T, NG_011497.1:g.122934G>T, NG_011497.1:g.122934G>A, NM_032514.4:c.102C>A, NM_032514.4:c.102C>T, NM_032514.3:c.102C>A, NM_032514.3:c.102C>T, XM_011529085.3:c.285C>A, XM_011529085.3:c.285C>T, XM_011529085.2:c.285C>A, XM_011529085.2:c.285C>T, XM_011529085.1:c.285C>A, XM_011529085.1:c.285C>T, XM_011529084.3:c.408C>A, XM_011529084.3:c.408C>T, XM_011529084.2:c.408C>A, XM_011529084.2:c.408C>T, XM_011529084.1:c.408C>A, XM_011529084.1:c.408C>T, NM_181509.3:c.114C>A, NM_181509.3:c.114C>T, NM_181509.2:c.114C>A, NM_181509.2:c.114C>T, XM_047440559.1:c.102C>A, XM_047440559.1:c.102C>T, XM_047440558.1:c.102C>A, XM_047440558.1:c.102C>T

Select item 144238677712.

rs1442386777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34559263 (GRCh38)
20:33147067 (GRCh37)
Canonical SPDI:: NC_000020.11:34559262:G:A
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.34559263G>A, NC_000020.10:g.33147067G>A, NG_011497.1:g.123023C>T, NM_032514.4:c.96G>A, NM_032514.3:c.96G>A, XM_011529085.3:c.279G>A, XM_011529085.2:c.279G>A, XM_011529085.1:c.279G>A, XM_011529084.3:c.402G>A, XM_011529084.2:c.402G>A, XM_011529084.1:c.402G>A, NM_181509.3:c.108G>A, NM_181509.2:c.108G>A, XM_047440559.1:c.96G>A, XM_047440558.1:c.96G>A

Select item 143302763513.

rs1433027635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34559789 (GRCh38)
20:33147593 (GRCh37)
Canonical SPDI:: NC_000020.11:34559788:A:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34559789A>G, NC_000020.10:g.33147593A>G, NG_011497.1:g.122497T>C, NM_032514.4:c.257A>G, NM_032514.3:c.257A>G, XM_011529085.3:c.440A>G, XM_011529085.2:c.440A>G, XM_011529085.1:c.440A>G, XM_011529084.3:c.563A>G, XM_011529084.2:c.563A>G, XM_011529084.1:c.563A>G, NM_181509.3:c.269A>G, NM_181509.2:c.269A>G, XM_047440559.1:c.257A>G, XM_047440558.1:c.257A>G, NP_115903.1:p.His86Arg, XP_011527387.1:p.His147Arg, XP_011527386.1:p.His188Arg, NP_852610.1:p.His90Arg, XP_047296515.1:p.His86Arg, XP_047296514.1:p.His86Arg

Select item 142258794114.

rs1422587941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34559765 (GRCh38)
20:33147569 (GRCh37)
Canonical SPDI:: NC_000020.11:34559764:C:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34559765C>T, NC_000020.10:g.33147569C>T, NG_011497.1:g.122521G>A, NM_032514.4:c.233C>T, NM_032514.3:c.233C>T, XM_011529085.3:c.416C>T, XM_011529085.2:c.416C>T, XM_011529085.1:c.416C>T, XM_011529084.3:c.539C>T, XM_011529084.2:c.539C>T, XM_011529084.1:c.539C>T, NM_181509.3:c.245C>T, NM_181509.2:c.245C>T, XM_047440559.1:c.233C>T, XM_047440558.1:c.233C>T, NP_115903.1:p.Ala78Val, XP_011527387.1:p.Ala139Val, XP_011527386.1:p.Ala180Val, NP_852610.1:p.Ala82Val, XP_047296515.1:p.Ala78Val, XP_047296514.1:p.Ala78Val

Select item 141612715915.

rs1416127159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34550013 (GRCh38)
20:33137817 (GRCh37)
Canonical SPDI:: NC_000020.11:34550012:A:G
Gene:: MAP1LC3A (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=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34550013A>G, NC_000020.10:g.33137817A>G, XM_011529085.3:c.36A>G, XM_011529085.2:c.36A>G, XM_011529085.1:c.36A>G, XM_011529084.3:c.36A>G, XM_011529084.2:c.36A>G, XM_011529084.1:c.36A>G, NM_181509.3:c.36A>G, NM_181509.2:c.36A>G

Select item 141559895116.

rs1415598951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34559363 (GRCh38)
20:33147167 (GRCh37)
Canonical SPDI:: NC_000020.11:34559362:A:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.34559363A>G, NC_000020.10:g.33147167A>G, NG_011497.1:g.122923T>C, NM_032514.4:c.113A>G, NM_032514.3:c.113A>G, XM_011529085.3:c.296A>G, XM_011529085.2:c.296A>G, XM_011529085.1:c.296A>G, XM_011529084.3:c.419A>G, XM_011529084.2:c.419A>G, XM_011529084.1:c.419A>G, NM_181509.3:c.125A>G, NM_181509.2:c.125A>G, XM_047440559.1:c.113A>G, XM_047440558.1:c.113A>G, NP_115903.1:p.Tyr38Cys, XP_011527387.1:p.Tyr99Cys, XP_011527386.1:p.Tyr140Cys, NP_852610.1:p.Tyr42Cys, XP_047296515.1:p.Tyr38Cys, XP_047296514.1:p.Tyr38Cys

Select item 140542768417.

rs1405427684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34559208 (GRCh38)
20:33147012 (GRCh37)
Canonical SPDI:: NC_000020.11:34559207:C:G
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_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_000020.11:g.34559208C>G, NC_000020.10:g.33147012C>G, NG_011497.1:g.123078G>C, NM_032514.4:c.41C>G, NM_032514.3:c.41C>G, XM_011529085.3:c.224C>G, XM_011529085.2:c.224C>G, XM_011529085.1:c.224C>G, XM_011529084.3:c.347C>G, XM_011529084.2:c.347C>G, XM_011529084.1:c.347C>G, NM_181509.3:c.53C>G, NM_181509.2:c.53C>G, XM_047440559.1:c.41C>G, XM_047440558.1:c.41C>G, NP_115903.1:p.Ala14Gly, XP_011527387.1:p.Ala75Gly, XP_011527386.1:p.Ala116Gly, NP_852610.1:p.Ala18Gly, XP_047296515.1:p.Ala14Gly, XP_047296514.1:p.Ala14Gly

Select item 140387221018.

rs1403872210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34559260 (GRCh38)
20:33147064 (GRCh37)
Canonical SPDI:: NC_000020.11:34559259:C:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.34559260C>T, NC_000020.10:g.33147064C>T, NG_011497.1:g.123026G>A, NM_032514.4:c.93C>T, NM_032514.3:c.93C>T, XM_011529085.3:c.276C>T, XM_011529085.2:c.276C>T, XM_011529085.1:c.276C>T, XM_011529084.3:c.399C>T, XM_011529084.2:c.399C>T, XM_011529084.1:c.399C>T, NM_181509.3:c.105C>T, NM_181509.2:c.105C>T, XM_047440559.1:c.93C>T, XM_047440558.1:c.93C>T

Select item 140142974519.

rs1401429745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:34559409 (GRCh38)
20:33147213 (GRCh37)
Canonical SPDI:: NC_000020.11:34559408:G:T
Gene:: MAP1LC3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34559409G>T, NC_000020.10:g.33147213G>T, NG_011497.1:g.122877C>A, NM_032514.4:c.159G>T, NM_032514.3:c.159G>T, XM_011529085.3:c.342G>T, XM_011529085.2:c.342G>T, XM_011529085.1:c.342G>T, XM_011529084.3:c.465G>T, XM_011529084.2:c.465G>T, XM_011529084.1:c.465G>T, NM_181509.3:c.171G>T, NM_181509.2:c.171G>T, XM_047440559.1:c.159G>T, XM_047440558.1:c.159G>T, NP_115903.1:p.Leu53Phe, XP_011527387.1:p.Leu114Phe, XP_011527386.1:p.Leu155Phe, NP_852610.1:p.Leu57Phe, XP_047296515.1:p.Leu53Phe, XP_047296514.1:p.Leu53Phe

Select item 139879659320.

rs1398796593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34549990 (GRCh38)
20:33137794 (GRCh37)
Canonical SPDI:: NC_000020.11:34549989:T:C
Gene:: MAP1LC3A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34549990T>C, NC_000020.10:g.33137794T>C, XM_011529085.3:c.13T>C, XM_011529085.2:c.13T>C, XM_011529085.1:c.13T>C, XM_011529084.3:c.13T>C, XM_011529084.2:c.13T>C, XM_011529084.1:c.13T>C, NM_181509.3:c.13T>C, NM_181509.2:c.13T>C, XP_011527387.1:p.Phe5Leu, XP_011527386.1:p.Phe5Leu, NP_852610.1:p.Phe5Leu

dbSNP

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