SNP Links for Protein (Select 549433016) - SNP

Links from Protein

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Select item 14853512411.

rs1485351241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:6428364 (GRCh38)
17:6331684 (GRCh37)
Canonical SPDI:: NC_000017.11:6428363:A:G
Gene:: AIPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6428364A>G, NC_000017.10:g.6331684A>G, NG_008474.1:g.11836T>C, NM_014336.5:c.419T>C, NM_014336.4:c.419T>C, NM_014336.3:c.419T>C, NM_001285403.4:c.419T>C, NM_001285403.3:c.419T>C, NM_001285403.2:c.419T>C, NM_001285403.1:c.419T>C, NM_001285399.3:c.383T>C, NM_001285399.2:c.383T>C, NM_001285399.1:c.383T>C, NM_001285400.3:c.353T>C, NM_001285400.2:c.353T>C, NM_001285400.1:c.353T>C, NM_001285401.3:c.419T>C, NM_001285401.2:c.419T>C, NM_001285401.1:c.419T>C, NM_001033055.3:c.239T>C, NM_001033055.2:c.239T>C, NM_001033055.1:c.239T>C, NM_001285402.2:c.302T>C, NM_001285402.1:c.302T>C, NP_055151.3:p.Leu140Pro, NP_001272332.1:p.Leu140Pro, NP_001272328.1:p.Leu128Pro, NP_001272329.1:p.Leu118Pro, NP_001272330.1:p.Leu140Pro, NP_001028227.1:p.Leu80Pro, NP_001272331.1:p.Leu101Pro

Select item 14850974012.

rs1485097401 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 17:6428359 (GRCh38)
17:6331679 (GRCh37)
Canonical SPDI:: NC_000017.11:6428356:CTTCT:CT
Gene:: AIPL1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6428359_6428361del, NC_000017.10:g.6331679_6331681del, NG_008474.1:g.11841_11843del, NM_014336.5:c.424_426del, NM_014336.4:c.424_426del, NM_014336.3:c.424_426del, NM_001285403.4:c.424_426del, NM_001285403.3:c.424_426del, NM_001285403.2:c.424_426del, NM_001285403.1:c.424_426del, NM_001285399.3:c.388_390del, NM_001285399.2:c.388_390del, NM_001285399.1:c.388_390del, NM_001285400.3:c.358_360del, NM_001285400.2:c.358_360del, NM_001285400.1:c.358_360del, NM_001285401.3:c.424_426del, NM_001285401.2:c.424_426del, NM_001285401.1:c.424_426del, NM_001033055.3:c.244_246del, NM_001033055.2:c.244_246del, NM_001033055.1:c.244_246del, NM_001285402.2:c.307_309del, NM_001285402.1:c.307_309del, NP_055151.3:p.Lys142del, NP_001272332.1:p.Lys142del, NP_001272328.1:p.Lys130del, NP_001272329.1:p.Lys120del, NP_001272330.1:p.Lys142del, NP_001028227.1:p.Lys82del, NP_001272331.1:p.Lys103del

Select item 14816972123.

rs1481697212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:6426705 (GRCh38)
17:6330025 (GRCh37)
Canonical SPDI:: NC_000017.11:6426704:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6426705G>T, NC_000017.10:g.6330025G>T, NG_008474.1:g.13495C>A, NM_014336.5:c.694C>A, NM_014336.4:c.694C>A, NM_014336.3:c.694C>A, NM_001285403.4:c.670C>A, NM_001285403.3:c.670C>A, NM_001285403.2:c.670C>A, NM_001285403.1:c.670C>A, NM_001285399.3:c.658C>A, NM_001285399.2:c.658C>A, NM_001285399.1:c.658C>A, NM_001285400.3:c.628C>A, NM_001285400.2:c.628C>A, NM_001285400.1:c.628C>A, NM_001033055.3:c.514C>A, NM_001033055.2:c.514C>A, NM_001033055.1:c.514C>A, NM_001033054.3:c.505C>A, NM_001033054.2:c.505C>A, NM_001033054.1:c.505C>A, NM_001285402.2:c.577C>A, NM_001285402.1:c.577C>A, NP_055151.3:p.Leu232Met, NP_001272332.1:p.Leu224Met, NP_001272328.1:p.Leu220Met, NP_001272329.1:p.Leu210Met, NP_001028227.1:p.Leu172Met, NP_001028226.1:p.Leu169Met, NP_001272331.1:p.Leu193Met

Select item 14793987014.

rs1479398701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6428492 (GRCh38)
17:6331812 (GRCh37)
Canonical SPDI:: NC_000017.11:6428491:G:A
Gene:: AIPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000017.11:g.6428492G>A, NC_000017.10:g.6331812G>A, NG_008474.1:g.11708C>T, NM_014336.5:c.291C>T, NM_014336.4:c.291C>T, NM_014336.3:c.291C>T, NM_001285403.4:c.291C>T, NM_001285403.3:c.291C>T, NM_001285403.2:c.291C>T, NM_001285403.1:c.291C>T, NM_001285399.3:c.255C>T, NM_001285399.2:c.255C>T, NM_001285399.1:c.255C>T, NM_001285400.3:c.225C>T, NM_001285400.2:c.225C>T, NM_001285400.1:c.225C>T, NM_001285401.3:c.291C>T, NM_001285401.2:c.291C>T, NM_001285401.1:c.291C>T, NM_001033055.3:c.111C>T, NM_001033055.2:c.111C>T, NM_001033055.1:c.111C>T, NM_001285402.2:c.174C>T, NM_001285402.1:c.174C>T

Select item 14772702295.

rs1477270229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6426991 (GRCh38)
17:6330311 (GRCh37)
Canonical SPDI:: NC_000017.11:6426990:C:T
Gene:: AIPL1 (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_000017.11:g.6426991C>T, NC_000017.10:g.6330311C>T, NG_008474.1:g.13209G>A, NM_014336.5:c.532G>A, NM_014336.4:c.532G>A, NM_014336.3:c.532G>A, NM_001285403.4:c.508G>A, NM_001285403.3:c.508G>A, NM_001285403.2:c.508G>A, NM_001285403.1:c.508G>A, NM_001285399.3:c.496G>A, NM_001285399.2:c.496G>A, NM_001285399.1:c.496G>A, NM_001285400.3:c.466G>A, NM_001285400.2:c.466G>A, NM_001285400.1:c.466G>A, NM_001285401.3:c.532G>A, NM_001285401.2:c.532G>A, NM_001285401.1:c.532G>A, NM_001033055.3:c.352G>A, NM_001033055.2:c.352G>A, NM_001033055.1:c.352G>A, NM_001033054.3:c.343G>A, NM_001033054.2:c.343G>A, NM_001033054.1:c.343G>A, NM_001285402.2:c.415G>A, NM_001285402.1:c.415G>A, NP_055151.3:p.Val178Met, NP_001272332.1:p.Val170Met, NP_001272328.1:p.Val166Met, NP_001272329.1:p.Val156Met, NP_001272330.1:p.Val178Met, NP_001028227.1:p.Val118Met, NP_001028226.1:p.Val115Met, NP_001272331.1:p.Val139Met

Select item 14770114816.

rs1477011481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:6426729 (GRCh38)
17:6330049 (GRCh37)
Canonical SPDI:: NC_000017.11:6426728:T:C,NC_000017.11:6426728:T:G
Gene:: AIPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
C=0.001638/3 (Korea1K)
HGVS:: NC_000017.11:g.6426729T>C, NC_000017.11:g.6426729T>G, NC_000017.10:g.6330049T>C, NC_000017.10:g.6330049T>G, NG_008474.1:g.13471A>G, NG_008474.1:g.13471A>C, NM_014336.5:c.670A>G, NM_014336.5:c.670A>C, NM_014336.4:c.670A>G, NM_014336.4:c.670A>C, NM_014336.3:c.670A>G, NM_014336.3:c.670A>C, NM_001285403.4:c.646A>G, NM_001285403.4:c.646A>C, NM_001285403.3:c.646A>G, NM_001285403.3:c.646A>C, NM_001285403.2:c.646A>G, NM_001285403.2:c.646A>C, NM_001285403.1:c.646A>G, NM_001285403.1:c.646A>C, NM_001285399.3:c.634A>G, NM_001285399.3:c.634A>C, NM_001285399.2:c.634A>G, NM_001285399.2:c.634A>C, NM_001285399.1:c.634A>G, NM_001285399.1:c.634A>C, NM_001285400.3:c.604A>G, NM_001285400.3:c.604A>C, NM_001285400.2:c.604A>G, NM_001285400.2:c.604A>C, NM_001285400.1:c.604A>G, NM_001285400.1:c.604A>C, NM_001033055.3:c.490A>G, NM_001033055.3:c.490A>C, NM_001033055.2:c.490A>G, NM_001033055.2:c.490A>C, NM_001033055.1:c.490A>G, NM_001033055.1:c.490A>C, NM_001033054.3:c.481A>G, NM_001033054.3:c.481A>C, NM_001033054.2:c.481A>G, NM_001033054.2:c.481A>C, NM_001033054.1:c.481A>G, NM_001033054.1:c.481A>C, NM_001285402.2:c.553A>G, NM_001285402.2:c.553A>C, NM_001285402.1:c.553A>G, NM_001285402.1:c.553A>C, NP_055151.3:p.Lys224Glu, NP_055151.3:p.Lys224Gln, NP_001272332.1:p.Lys216Glu, NP_001272332.1:p.Lys216Gln, NP_001272328.1:p.Lys212Glu, NP_001272328.1:p.Lys212Gln, NP_001272329.1:p.Lys202Glu, NP_001272329.1:p.Lys202Gln, NP_001028227.1:p.Lys164Glu, NP_001028227.1:p.Lys164Gln, NP_001028226.1:p.Lys161Glu, NP_001028226.1:p.Lys161Gln, NP_001272331.1:p.Lys185Glu, NP_001272331.1:p.Lys185Gln

Select item 14756084547.

rs1475608454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6426712 (GRCh38)
17:6330032 (GRCh37)
Canonical SPDI:: NC_000017.11:6426711:G:A
Gene:: AIPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.6426712G>A, NC_000017.10:g.6330032G>A, NG_008474.1:g.13488C>T, NM_014336.5:c.687C>T, NM_014336.4:c.687C>T, NM_014336.3:c.687C>T, NM_001285403.4:c.663C>T, NM_001285403.3:c.663C>T, NM_001285403.2:c.663C>T, NM_001285403.1:c.663C>T, NM_001285399.3:c.651C>T, NM_001285399.2:c.651C>T, NM_001285399.1:c.651C>T, NM_001285400.3:c.621C>T, NM_001285400.2:c.621C>T, NM_001285400.1:c.621C>T, NM_001033055.3:c.507C>T, NM_001033055.2:c.507C>T, NM_001033055.1:c.507C>T, NM_001033054.3:c.498C>T, NM_001033054.2:c.498C>T, NM_001033054.1:c.498C>T, NM_001285402.2:c.570C>T, NM_001285402.1:c.570C>T

Select item 14750210408.

rs1475021040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6426971 (GRCh38)
17:6330291 (GRCh37)
Canonical SPDI:: NC_000017.11:6426970:C:T
Gene:: AIPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6426971C>T, NC_000017.10:g.6330291C>T, NG_008474.1:g.13229G>A, NM_014336.5:c.552G>A, NM_014336.4:c.552G>A, NM_014336.3:c.552G>A, NM_001285403.4:c.528G>A, NM_001285403.3:c.528G>A, NM_001285403.2:c.528G>A, NM_001285403.1:c.528G>A, NM_001285399.3:c.516G>A, NM_001285399.2:c.516G>A, NM_001285399.1:c.516G>A, NM_001285400.3:c.486G>A, NM_001285400.2:c.486G>A, NM_001285400.1:c.486G>A, NM_001285401.3:c.552G>A, NM_001285401.2:c.552G>A, NM_001285401.1:c.552G>A, NM_001033055.3:c.372G>A, NM_001033055.2:c.372G>A, NM_001033055.1:c.372G>A, NM_001033054.3:c.363G>A, NM_001033054.2:c.363G>A, NM_001033054.1:c.363G>A, NM_001285402.2:c.435G>A, NM_001285402.1:c.435G>A

Select item 14689794289.

rs1468979428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6426988 (GRCh38)
17:6330308 (GRCh37)
Canonical SPDI:: NC_000017.11:6426987:G:A
Gene:: AIPL1 (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)
HGVS:: NC_000017.11:g.6426988G>A, NC_000017.10:g.6330308G>A, NG_008474.1:g.13212C>T, NM_014336.5:c.535C>T, NM_014336.4:c.535C>T, NM_014336.3:c.535C>T, NM_001285403.4:c.511C>T, NM_001285403.3:c.511C>T, NM_001285403.2:c.511C>T, NM_001285403.1:c.511C>T, NM_001285399.3:c.499C>T, NM_001285399.2:c.499C>T, NM_001285399.1:c.499C>T, NM_001285400.3:c.469C>T, NM_001285400.2:c.469C>T, NM_001285400.1:c.469C>T, NM_001285401.3:c.535C>T, NM_001285401.2:c.535C>T, NM_001285401.1:c.535C>T, NM_001033055.3:c.355C>T, NM_001033055.2:c.355C>T, NM_001033055.1:c.355C>T, NM_001033054.3:c.346C>T, NM_001033054.2:c.346C>T, NM_001033054.1:c.346C>T, NM_001285402.2:c.418C>T, NM_001285402.1:c.418C>T, NP_055151.3:p.Pro179Ser, NP_001272332.1:p.Pro171Ser, NP_001272328.1:p.Pro167Ser, NP_001272329.1:p.Pro157Ser, NP_001272330.1:p.Pro179Ser, NP_001028227.1:p.Pro119Ser, NP_001028226.1:p.Pro116Ser, NP_001272331.1:p.Pro140Ser

Select item 146804154410.

rs1468041544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6433980 (GRCh38)
17:6337300 (GRCh37)
Canonical SPDI:: NC_000017.11:6433979:C:T
Gene:: AIPL1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.6433980C>T, NC_000017.10:g.6337300C>T, NG_008474.1:g.6220G>A, NM_014336.5:c.215G>A, NM_014336.4:c.215G>A, NM_014336.3:c.215G>A, NM_001285403.4:c.215G>A, NM_001285403.3:c.215G>A, NM_001285403.2:c.215G>A, NM_001285403.1:c.215G>A, NM_001285399.3:c.179G>A, NM_001285399.2:c.179G>A, NM_001285399.1:c.179G>A, NM_001285400.3:c.149G>A, NM_001285400.2:c.149G>A, NM_001285400.1:c.149G>A, NM_001285401.3:c.215G>A, NM_001285401.2:c.215G>A, NM_001285401.1:c.215G>A, NM_001033054.3:c.215G>A, NM_001033054.2:c.215G>A, NM_001033054.1:c.215G>A, NM_001285402.2:c.98G>A, NM_001285402.1:c.98G>A, NP_055151.3:p.Trp72Ter, NP_001272332.1:p.Trp72Ter, NP_001272328.1:p.Trp60Ter, NP_001272329.1:p.Trp50Ter, NP_001272330.1:p.Trp72Ter, NP_001028226.1:p.Trp72Ter, NP_001272331.1:p.Trp33Ter

Select item 146019624411.

rs1460196244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:6428461 (GRCh38)
17:6331781 (GRCh37)
Canonical SPDI:: NC_000017.11:6428460:C:A
Gene:: AIPL1 (Varview)
Functional Consequence:: 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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.6428461C>A, NC_000017.10:g.6331781C>A, NG_008474.1:g.11739G>T, NM_014336.5:c.322G>T, NM_014336.4:c.322G>T, NM_014336.3:c.322G>T, NM_001285403.4:c.322G>T, NM_001285403.3:c.322G>T, NM_001285403.2:c.322G>T, NM_001285403.1:c.322G>T, NM_001285399.3:c.286G>T, NM_001285399.2:c.286G>T, NM_001285399.1:c.286G>T, NM_001285400.3:c.256G>T, NM_001285400.2:c.256G>T, NM_001285400.1:c.256G>T, NM_001285401.3:c.322G>T, NM_001285401.2:c.322G>T, NM_001285401.1:c.322G>T, NM_001033055.3:c.142G>T, NM_001033055.2:c.142G>T, NM_001033055.1:c.142G>T, NM_001285402.2:c.205G>T, NM_001285402.1:c.205G>T, NP_055151.3:p.Ala108Ser, NP_001272332.1:p.Ala108Ser, NP_001272328.1:p.Ala96Ser, NP_001272329.1:p.Ala86Ser, NP_001272330.1:p.Ala108Ser, NP_001028227.1:p.Ala48Ser, NP_001272331.1:p.Ala69Ser

Select item 145810079612.

rs1458100796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:6435013 (GRCh38)
17:6338333 (GRCh37)
Canonical SPDI:: NC_000017.11:6435012:G:A,NC_000017.11:6435012:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.6435013G>A, NC_000017.11:g.6435013G>T, NC_000017.10:g.6338333G>A, NC_000017.10:g.6338333G>T, NG_008474.1:g.5187C>T, NG_008474.1:g.5187C>A, NM_014336.5:c.92C>T, NM_014336.5:c.92C>A, NM_014336.4:c.92C>T, NM_014336.4:c.92C>A, NM_014336.3:c.92C>T, NM_014336.3:c.92C>A, NM_001285403.4:c.92C>T, NM_001285403.4:c.92C>A, NM_001285403.3:c.92C>T, NM_001285403.3:c.92C>A, NM_001285403.2:c.92C>T, NM_001285403.2:c.92C>A, NM_001285403.1:c.92C>T, NM_001285403.1:c.92C>A, NM_001285399.3:c.92C>T, NM_001285399.3:c.92C>A, NM_001285399.2:c.92C>T, NM_001285399.2:c.92C>A, NM_001285399.1:c.92C>T, NM_001285399.1:c.92C>A, NM_001285400.3:c.92C>T, NM_001285400.3:c.92C>A, NM_001285400.2:c.92C>T, NM_001285400.2:c.92C>A, NM_001285400.1:c.92C>T, NM_001285400.1:c.92C>A, NM_001285401.3:c.92C>T, NM_001285401.3:c.92C>A, NM_001285401.2:c.92C>T, NM_001285401.2:c.92C>A, NM_001285401.1:c.92C>T, NM_001285401.1:c.92C>A, NM_001033055.3:c.92C>T, NM_001033055.3:c.92C>A, NM_001033055.2:c.92C>T, NM_001033055.2:c.92C>A, NM_001033055.1:c.92C>T, NM_001033055.1:c.92C>A, NM_001033054.3:c.92C>T, NM_001033054.3:c.92C>A, NM_001033054.2:c.92C>T, NM_001033054.2:c.92C>A, NM_001033054.1:c.92C>T, NM_001033054.1:c.92C>A, NM_001285402.2:c.-84C>T, NM_001285402.2:c.-84C>A, NM_001285402.1:c.-84C>T, NM_001285402.1:c.-84C>A, NP_055151.3:p.Ser31Phe, NP_055151.3:p.Ser31Tyr, NP_001272332.1:p.Ser31Phe, NP_001272332.1:p.Ser31Tyr, NP_001272328.1:p.Ser31Phe, NP_001272328.1:p.Ser31Tyr, NP_001272329.1:p.Ser31Phe, NP_001272329.1:p.Ser31Tyr, NP_001272330.1:p.Ser31Phe, NP_001272330.1:p.Ser31Tyr, NP_001028227.1:p.Ser31Phe, NP_001028227.1:p.Ser31Tyr, NP_001028226.1:p.Ser31Phe, NP_001028226.1:p.Ser31Tyr

Select item 145408595513.

rs1454085955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6435039 (GRCh38)
17:6338359 (GRCh37)
Canonical SPDI:: NC_000017.11:6435038:G:A
Gene:: AIPL1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6435039G>A, NC_000017.10:g.6338359G>A, NG_008474.1:g.5161C>T, NM_014336.5:c.66C>T, NM_014336.4:c.66C>T, NM_014336.3:c.66C>T, NM_001285403.4:c.66C>T, NM_001285403.3:c.66C>T, NM_001285403.2:c.66C>T, NM_001285403.1:c.66C>T, NM_001285399.3:c.66C>T, NM_001285399.2:c.66C>T, NM_001285399.1:c.66C>T, NM_001285400.3:c.66C>T, NM_001285400.2:c.66C>T, NM_001285400.1:c.66C>T, NM_001285401.3:c.66C>T, NM_001285401.2:c.66C>T, NM_001285401.1:c.66C>T, NM_001033055.3:c.66C>T, NM_001033055.2:c.66C>T, NM_001033055.1:c.66C>T, NM_001033054.3:c.66C>T, NM_001033054.2:c.66C>T, NM_001033054.1:c.66C>T, NM_001285402.2:c.-110C>T, NM_001285402.1:c.-110C>T

Select item 144964579514.

rs1449645795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:6426996 (GRCh38)
17:6330316 (GRCh37)
Canonical SPDI:: NC_000017.11:6426995:T:G
Gene:: AIPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6426996T>G, NC_000017.10:g.6330316T>G, NG_008474.1:g.13204A>C, NM_014336.5:c.527A>C, NM_014336.4:c.527A>C, NM_014336.3:c.527A>C, NM_001285403.4:c.503A>C, NM_001285403.3:c.503A>C, NM_001285403.2:c.503A>C, NM_001285403.1:c.503A>C, NM_001285399.3:c.491A>C, NM_001285399.2:c.491A>C, NM_001285399.1:c.491A>C, NM_001285400.3:c.461A>C, NM_001285400.2:c.461A>C, NM_001285400.1:c.461A>C, NM_001285401.3:c.527A>C, NM_001285401.2:c.527A>C, NM_001285401.1:c.527A>C, NM_001033055.3:c.347A>C, NM_001033055.2:c.347A>C, NM_001033055.1:c.347A>C, NM_001033054.3:c.338A>C, NM_001033054.2:c.338A>C, NM_001033054.1:c.338A>C, NM_001285402.2:c.410A>C, NM_001285402.1:c.410A>C, NP_055151.3:p.Lys176Thr, NP_001272332.1:p.Lys168Thr, NP_001272328.1:p.Lys164Thr, NP_001272329.1:p.Lys154Thr, NP_001272330.1:p.Lys176Thr, NP_001028227.1:p.Lys116Thr, NP_001028226.1:p.Lys113Thr, NP_001272331.1:p.Lys137Thr

Select item 144523763215.

rs1445237632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6426652 (GRCh38)
17:6329972 (GRCh37)
Canonical SPDI:: NC_000017.11:6426651:C:T
Gene:: AIPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
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_000017.11:g.6426652C>T, NC_000017.10:g.6329972C>T, NG_008474.1:g.13548G>A, NM_014336.5:c.747G>A, NM_014336.4:c.747G>A, NM_014336.3:c.747G>A, NM_001285403.4:c.723G>A, NM_001285403.3:c.723G>A, NM_001285403.2:c.723G>A, NM_001285403.1:c.723G>A, NM_001285399.3:c.711G>A, NM_001285399.2:c.711G>A, NM_001285399.1:c.711G>A, NM_001285400.3:c.681G>A, NM_001285400.2:c.681G>A, NM_001285400.1:c.681G>A, NM_001285401.3:c.675G>A, NM_001285401.2:c.675G>A, NM_001285401.1:c.675G>A, NM_001033055.3:c.567G>A, NM_001033055.2:c.567G>A, NM_001033055.1:c.567G>A, NM_001033054.3:c.558G>A, NM_001033054.2:c.558G>A, NM_001033054.1:c.558G>A, NM_001285402.2:c.630G>A, NM_001285402.1:c.630G>A

Select item 144305228616.

rs1443052286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6428327 (GRCh38)
17:6331647 (GRCh37)
Canonical SPDI:: NC_000017.11:6428326:C:T
Gene:: AIPL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000017.11:g.6428327C>T, NC_000017.10:g.6331647C>T, NG_008474.1:g.11873G>A, NM_014336.5:c.456G>A, NM_014336.4:c.456G>A, NM_014336.3:c.456G>A, NM_001285403.4:c.456G>A, NM_001285403.3:c.456G>A, NM_001285403.2:c.456G>A, NM_001285403.1:c.456G>A, NM_001285399.3:c.420G>A, NM_001285399.2:c.420G>A, NM_001285399.1:c.420G>A, NM_001285400.3:c.390G>A, NM_001285400.2:c.390G>A, NM_001285400.1:c.390G>A, NM_001285401.3:c.456G>A, NM_001285401.2:c.456G>A, NM_001285401.1:c.456G>A, NM_001033055.3:c.276G>A, NM_001033055.2:c.276G>A, NM_001033055.1:c.276G>A, NM_001285402.2:c.339G>A, NM_001285402.1:c.339G>A

Select item 144268100917.

rs1442681009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:6434023 (GRCh38)
17:6337343 (GRCh37)
Canonical SPDI:: NC_000017.11:6434022:G:A,NC_000017.11:6434022:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6434023G>A, NC_000017.11:g.6434023G>T, NC_000017.10:g.6337343G>A, NC_000017.10:g.6337343G>T, NG_008474.1:g.6177C>T, NG_008474.1:g.6177C>A, NM_014336.5:c.172C>T, NM_014336.5:c.172C>A, NM_014336.4:c.172C>T, NM_014336.4:c.172C>A, NM_014336.3:c.172C>T, NM_014336.3:c.172C>A, NM_001285403.4:c.172C>T, NM_001285403.4:c.172C>A, NM_001285403.3:c.172C>T, NM_001285403.3:c.172C>A, NM_001285403.2:c.172C>T, NM_001285403.2:c.172C>A, NM_001285403.1:c.172C>T, NM_001285403.1:c.172C>A, NM_001285399.3:c.136C>T, NM_001285399.3:c.136C>A, NM_001285399.2:c.136C>T, NM_001285399.2:c.136C>A, NM_001285399.1:c.136C>T, NM_001285399.1:c.136C>A, NM_001285400.3:c.106C>T, NM_001285400.3:c.106C>A, NM_001285400.2:c.106C>T, NM_001285400.2:c.106C>A, NM_001285400.1:c.106C>T, NM_001285400.1:c.106C>A, NM_001285401.3:c.172C>T, NM_001285401.3:c.172C>A, NM_001285401.2:c.172C>T, NM_001285401.2:c.172C>A, NM_001285401.1:c.172C>T, NM_001285401.1:c.172C>A, NM_001033054.3:c.172C>T, NM_001033054.3:c.172C>A, NM_001033054.2:c.172C>T, NM_001033054.2:c.172C>A, NM_001033054.1:c.172C>T, NM_001033054.1:c.172C>A, NM_001285402.2:c.55C>T, NM_001285402.2:c.55C>A, NM_001285402.1:c.55C>T, NM_001285402.1:c.55C>A, NP_055151.3:p.Pro58Ser, NP_055151.3:p.Pro58Thr, NP_001272332.1:p.Pro58Ser, NP_001272332.1:p.Pro58Thr, NP_001272328.1:p.Pro46Ser, NP_001272328.1:p.Pro46Thr, NP_001272329.1:p.Pro36Ser, NP_001272329.1:p.Pro36Thr, NP_001272330.1:p.Pro58Ser, NP_001272330.1:p.Pro58Thr, NP_001028226.1:p.Pro58Ser, NP_001028226.1:p.Pro58Thr, NP_001272331.1:p.Pro19Ser, NP_001272331.1:p.Pro19Thr

Select item 143843562118.

rs1438435621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:6435019 (GRCh38)
17:6338339 (GRCh37)
Canonical SPDI:: NC_000017.11:6435018:G:T
Gene:: AIPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.6435019G>T, NC_000017.10:g.6338339G>T, NG_008474.1:g.5181C>A, NM_014336.5:c.86C>A, NM_014336.4:c.86C>A, NM_014336.3:c.86C>A, NM_001285403.4:c.86C>A, NM_001285403.3:c.86C>A, NM_001285403.2:c.86C>A, NM_001285403.1:c.86C>A, NM_001285399.3:c.86C>A, NM_001285399.2:c.86C>A, NM_001285399.1:c.86C>A, NM_001285400.3:c.86C>A, NM_001285400.2:c.86C>A, NM_001285400.1:c.86C>A, NM_001285401.3:c.86C>A, NM_001285401.2:c.86C>A, NM_001285401.1:c.86C>A, NM_001033055.3:c.86C>A, NM_001033055.2:c.86C>A, NM_001033055.1:c.86C>A, NM_001033054.3:c.86C>A, NM_001033054.2:c.86C>A, NM_001033054.1:c.86C>A, NM_001285402.2:c.-90C>A, NM_001285402.1:c.-90C>A, NP_055151.3:p.Thr29Asn, NP_001272332.1:p.Thr29Asn, NP_001272328.1:p.Thr29Asn, NP_001272329.1:p.Thr29Asn, NP_001272330.1:p.Thr29Asn, NP_001028227.1:p.Thr29Asn, NP_001028226.1:p.Thr29Asn

Select item 143280250719.

rs1432802507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:6434031 (GRCh38)
17:6337351 (GRCh37)
Canonical SPDI:: NC_000017.11:6434030:A:C,NC_000017.11:6434030:A:G
Gene:: AIPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.6434031A>C, NC_000017.11:g.6434031A>G, NC_000017.10:g.6337351A>C, NC_000017.10:g.6337351A>G, NG_008474.1:g.6169T>G, NG_008474.1:g.6169T>C, NM_014336.5:c.164T>G, NM_014336.5:c.164T>C, NM_014336.4:c.164T>G, NM_014336.4:c.164T>C, NM_014336.3:c.164T>G, NM_014336.3:c.164T>C, NM_001285403.4:c.164T>G, NM_001285403.4:c.164T>C, NM_001285403.3:c.164T>G, NM_001285403.3:c.164T>C, NM_001285403.2:c.164T>G, NM_001285403.2:c.164T>C, NM_001285403.1:c.164T>G, NM_001285403.1:c.164T>C, NM_001285399.3:c.128T>G, NM_001285399.3:c.128T>C, NM_001285399.2:c.128T>G, NM_001285399.2:c.128T>C, NM_001285399.1:c.128T>G, NM_001285399.1:c.128T>C, NM_001285400.3:c.98T>G, NM_001285400.3:c.98T>C, NM_001285400.2:c.98T>G, NM_001285400.2:c.98T>C, NM_001285400.1:c.98T>G, NM_001285400.1:c.98T>C, NM_001285401.3:c.164T>G, NM_001285401.3:c.164T>C, NM_001285401.2:c.164T>G, NM_001285401.2:c.164T>C, NM_001285401.1:c.164T>G, NM_001285401.1:c.164T>C, NM_001033054.3:c.164T>G, NM_001033054.3:c.164T>C, NM_001033054.2:c.164T>G, NM_001033054.2:c.164T>C, NM_001033054.1:c.164T>G, NM_001033054.1:c.164T>C, NM_001285402.2:c.47T>G, NM_001285402.2:c.47T>C, NM_001285402.1:c.47T>G, NM_001285402.1:c.47T>C, NP_055151.3:p.Val55Gly, NP_055151.3:p.Val55Ala, NP_001272332.1:p.Val55Gly, NP_001272332.1:p.Val55Ala, NP_001272328.1:p.Val43Gly, NP_001272328.1:p.Val43Ala, NP_001272329.1:p.Val33Gly, NP_001272329.1:p.Val33Ala, NP_001272330.1:p.Val55Gly, NP_001272330.1:p.Val55Ala, NP_001028226.1:p.Val55Gly, NP_001028226.1:p.Val55Ala, NP_001272331.1:p.Val16Gly, NP_001272331.1:p.Val16Ala

Select item 142085317020.

rs1420853170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6433965 (GRCh38)
17:6337285 (GRCh37)
Canonical SPDI:: NC_000017.11:6433964:G:A
Gene:: AIPL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.6433965G>A, NC_000017.10:g.6337285G>A, NG_008474.1:g.6235C>T, NM_014336.5:c.230C>T, NM_014336.4:c.230C>T, NM_014336.3:c.230C>T, NM_001285403.4:c.230C>T, NM_001285403.3:c.230C>T, NM_001285403.2:c.230C>T, NM_001285403.1:c.230C>T, NM_001285399.3:c.194C>T, NM_001285399.2:c.194C>T, NM_001285399.1:c.194C>T, NM_001285400.3:c.164C>T, NM_001285400.2:c.164C>T, NM_001285400.1:c.164C>T, NM_001285401.3:c.230C>T, NM_001285401.2:c.230C>T, NM_001285401.1:c.230C>T, NM_001033054.3:c.230C>T, NM_001033054.2:c.230C>T, NM_001033054.1:c.230C>T, NM_001285402.2:c.113C>T, NM_001285402.1:c.113C>T, NP_055151.3:p.Thr77Ile, NP_001272332.1:p.Thr77Ile, NP_001272328.1:p.Thr65Ile, NP_001272329.1:p.Thr55Ile, NP_001272330.1:p.Thr77Ile, NP_001028226.1:p.Thr77Ile, NP_001272331.1:p.Thr38Ile

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