Canonical Allele Identifier: CA397394427

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328920G>T (hg19) ; chr17:g.6425600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425600G>T , CM000679.2:g.6425600G>T	GRCh38
NC_000017.10:g.6328920G>T , CM000679.1:g.6328920G>T	GRCh37
NC_000017.9:g.6269644G>T	NCBI36
NG_008474.1:g.14600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1015C>A MANE Select	ENSP00000370521.3:p.Pro339Thr
ENST00000250087.9:c.826C>A	ENSP00000250087.5:p.Pro276Thr
ENST00000381128.2:c.*887C>A	ENSP00000370520.2:n.*887C>A
ENST00000381129.7:c.1015C>A	ENSP00000370521.3:p.Pro339Thr
ENST00000570466.5:c.949C>A	ENSP00000461287.1:p.Pro317Thr
ENST00000570584.5:c.251+8319C>A
ENST00000574506.5:c.979C>A	ENSP00000458456.1:p.Pro327Thr
ENST00000575265.5:c.*986C>A	ENSP00000459673.1:n.*986C>A
ENST00000576307.5:c.835C>A	ENSP00000459522.1:p.Pro279Thr
ENST00000576776.5:c.943C>A	ENSP00000460827.1:p.Pro315Thr
ENST00000621374.4:c.*33C>A	ENSP00000481337.1:n.*33C>A
NM_001033054.2:c.826C>A	NP_001028226.1:p.Pro276Thr
NM_001033055.2:c.835C>A	NP_001028227.1:p.Pro279Thr
NM_001285399.2:c.979C>A	NP_001272328.1:p.Pro327Thr
NM_001285400.2:c.949C>A	NP_001272329.1:p.Pro317Thr
NM_001285401.2:c.943C>A	NP_001272330.1:p.Pro315Thr
NM_001285402.1:c.898C>A	NP_001272331.1:p.Pro300Thr
NM_014336.4:c.1015C>A	NP_055151.3:p.Pro339Thr
NM_001033054.3:c.826C>A	NP_001028226.1:p.Pro276Thr
NM_001033055.3:c.835C>A	NP_001028227.1:p.Pro279Thr
NM_001285399.3:c.979C>A	NP_001272328.1:p.Pro327Thr
NM_001285400.3:c.949C>A	NP_001272329.1:p.Pro317Thr
NM_001285401.3:c.943C>A	NP_001272330.1:p.Pro315Thr
NM_001285402.2:c.898C>A	NP_001272331.1:p.Pro300Thr
NM_001285403.3:c.*986C>A	NP_001272332.1:n.*986C>A
NM_014336.5:c.1015C>A MANE Select	NP_055151.3:p.Pro339Thr
NM_001285403.4:c.*986C>A	NP_001272332.1:n.*986C>A