Canonical Allele Identifier: CA397394557

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328979T>A (hg19) ; chr17:g.6425659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425659T>A , CM000679.2:g.6425659T>A	GRCh38
NC_000017.10:g.6328979T>A , CM000679.1:g.6328979T>A	GRCh37
NC_000017.9:g.6269703T>A	NCBI36
NG_008474.1:g.14541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.956A>T MANE Select	ENSP00000370521.3:p.Glu319Val
ENST00000250087.9:c.767A>T	ENSP00000250087.5:p.Glu256Val
ENST00000381128.2:c.*828A>T	ENSP00000370520.2:n.*828A>T
ENST00000381129.7:c.956A>T	ENSP00000370521.3:p.Glu319Val
ENST00000570466.5:c.890A>T	ENSP00000461287.1:p.Glu297Val
ENST00000570584.5:c.251+8260A>T
ENST00000574506.5:c.920A>T	ENSP00000458456.1:p.Glu307Val
ENST00000575265.5:c.*927A>T	ENSP00000459673.1:n.*927A>T
ENST00000576307.5:c.776A>T	ENSP00000459522.1:p.Glu259Val
ENST00000576776.5:c.884A>T	ENSP00000460827.1:p.Glu295Val
ENST00000621374.4:c.955A>T	ENSP00000481337.1:p.Ser319Cys
NM_001033054.2:c.767A>T	NP_001028226.1:p.Glu256Val
NM_001033055.2:c.776A>T	NP_001028227.1:p.Glu259Val
NM_001285399.2:c.920A>T	NP_001272328.1:p.Glu307Val
NM_001285400.2:c.890A>T	NP_001272329.1:p.Glu297Val
NM_001285401.2:c.884A>T	NP_001272330.1:p.Glu295Val
NM_001285402.1:c.839A>T	NP_001272331.1:p.Glu280Val
NM_014336.4:c.956A>T	NP_055151.3:p.Glu319Val
NM_001033054.3:c.767A>T	NP_001028226.1:p.Glu256Val
NM_001033055.3:c.776A>T	NP_001028227.1:p.Glu259Val
NM_001285399.3:c.920A>T	NP_001272328.1:p.Glu307Val
NM_001285400.3:c.890A>T	NP_001272329.1:p.Glu297Val
NM_001285401.3:c.884A>T	NP_001272330.1:p.Glu295Val
NM_001285402.2:c.839A>T	NP_001272331.1:p.Glu280Val
NM_001285403.3:c.*927A>T	NP_001272332.1:n.*927A>T
NM_014336.5:c.956A>T MANE Select	NP_055151.3:p.Glu319Val
NM_001285403.4:c.*927A>T	NP_001272332.1:n.*927A>T