Canonical Allele Identifier: CA397394276

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328841C>T (hg19) ; chr17:g.6425521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425521C>T , CM000679.2:g.6425521C>T	GRCh38
NC_000017.10:g.6328841C>T , CM000679.1:g.6328841C>T	GRCh37
NC_000017.9:g.6269565C>T	NCBI36
NG_008474.1:g.14679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1094G>A MANE Select	ENSP00000370521.3:p.Gly365Glu
ENST00000250087.9:c.905G>A	ENSP00000250087.5:p.Gly302Glu
ENST00000381128.2:c.*966G>A	ENSP00000370520.2:n.*966G>A
ENST00000381129.7:c.1094G>A	ENSP00000370521.3:p.Gly365Glu
ENST00000570466.5:c.1028G>A	ENSP00000461287.1:p.Gly343Glu
ENST00000570584.5:c.251+8398G>A
ENST00000574506.5:c.1058G>A	ENSP00000458456.1:p.Gly353Glu
ENST00000575265.5:c.*1065G>A	ENSP00000459673.1:n.*1065G>A
ENST00000576307.5:c.914G>A	ENSP00000459522.1:p.Gly305Glu
ENST00000576776.5:c.1022G>A	ENSP00000460827.1:p.Gly341Glu
ENST00000621374.4:c.*112G>A	ENSP00000481337.1:n.*112G>A
NM_001033054.2:c.905G>A	NP_001028226.1:p.Gly302Glu
NM_001033055.2:c.914G>A	NP_001028227.1:p.Gly305Glu
NM_001285399.2:c.1058G>A	NP_001272328.1:p.Gly353Glu
NM_001285400.2:c.1028G>A	NP_001272329.1:p.Gly343Glu
NM_001285401.2:c.1022G>A	NP_001272330.1:p.Gly341Glu
NM_001285402.1:c.977G>A	NP_001272331.1:p.Gly326Glu
NM_014336.4:c.1094G>A	NP_055151.3:p.Gly365Glu
NM_001033054.3:c.905G>A	NP_001028226.1:p.Gly302Glu
NM_001033055.3:c.914G>A	NP_001028227.1:p.Gly305Glu
NM_001285399.3:c.1058G>A	NP_001272328.1:p.Gly353Glu
NM_001285400.3:c.1028G>A	NP_001272329.1:p.Gly343Glu
NM_001285401.3:c.1022G>A	NP_001272330.1:p.Gly341Glu
NM_001285402.2:c.977G>A	NP_001272331.1:p.Gly326Glu
NM_001285403.3:c.*1065G>A	NP_001272332.1:n.*1065G>A
NM_014336.5:c.1094G>A MANE Select	NP_055151.3:p.Gly365Glu
NM_001285403.4:c.*1065G>A	NP_001272332.1:n.*1065G>A