Canonical Allele Identifier: CA397394533

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328968A>T (hg19) ; chr17:g.6425648A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425648A>T , CM000679.2:g.6425648A>T	GRCh38
NC_000017.10:g.6328968A>T , CM000679.1:g.6328968A>T	GRCh37
NC_000017.9:g.6269692A>T	NCBI36
NG_008474.1:g.14552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.967T>A MANE Select	ENSP00000370521.3:p.Cys323Ser
ENST00000250087.9:c.778T>A	ENSP00000250087.5:p.Cys260Ser
ENST00000381128.2:c.*839T>A	ENSP00000370520.2:n.*839T>A
ENST00000381129.7:c.967T>A	ENSP00000370521.3:p.Cys323Ser
ENST00000570466.5:c.901T>A	ENSP00000461287.1:p.Cys301Ser
ENST00000570584.5:c.251+8271T>A
ENST00000574506.5:c.931T>A	ENSP00000458456.1:p.Cys311Ser
ENST00000575265.5:c.*938T>A	ENSP00000459673.1:n.*938T>A
ENST00000576307.5:c.787T>A	ENSP00000459522.1:p.Cys263Ser
ENST00000576776.5:c.895T>A	ENSP00000460827.1:p.Cys299Ser
ENST00000621374.4:c.966T>A	ENSP00000481337.1:p.Ala322=
NM_001033054.2:c.778T>A	NP_001028226.1:p.Cys260Ser
NM_001033055.2:c.787T>A	NP_001028227.1:p.Cys263Ser
NM_001285399.2:c.931T>A	NP_001272328.1:p.Cys311Ser
NM_001285400.2:c.901T>A	NP_001272329.1:p.Cys301Ser
NM_001285401.2:c.895T>A	NP_001272330.1:p.Cys299Ser
NM_001285402.1:c.850T>A	NP_001272331.1:p.Cys284Ser
NM_014336.4:c.967T>A	NP_055151.3:p.Cys323Ser
NM_001033054.3:c.778T>A	NP_001028226.1:p.Cys260Ser
NM_001033055.3:c.787T>A	NP_001028227.1:p.Cys263Ser
NM_001285399.3:c.931T>A	NP_001272328.1:p.Cys311Ser
NM_001285400.3:c.901T>A	NP_001272329.1:p.Cys301Ser
NM_001285401.3:c.895T>A	NP_001272330.1:p.Cys299Ser
NM_001285402.2:c.850T>A	NP_001272331.1:p.Cys284Ser
NM_001285403.3:c.*938T>A	NP_001272332.1:n.*938T>A
NM_014336.5:c.967T>A MANE Select	NP_055151.3:p.Cys323Ser
NM_001285403.4:c.*938T>A	NP_001272332.1:n.*938T>A