Canonical Allele Identifier: CA8328314

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425525C>T , CM000679.2:g.6425525C>T	GRCh38
NC_000017.10:g.6328845C>T , CM000679.1:g.6328845C>T	GRCh37
NC_000017.9:g.6269569C>T	NCBI36
NG_008474.1:g.14675G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.1090G>A MANE Select	NP_055151.3:p.Ala364Thr
ENST00000381129.8:c.1090G>A MANE Select	ENSP00000370521.3:p.Ala364Thr
NM_001033054.2:c.901G>A	NP_001028226.1:p.Ala301Thr
NM_001033054.3:c.901G>A	NP_001028226.1:p.Ala301Thr
NM_001033055.2:c.910G>A	NP_001028227.1:p.Ala304Thr
NM_001033055.3:c.910G>A	NP_001028227.1:p.Ala304Thr
NM_001285399.2:c.1054G>A	NP_001272328.1:p.Ala352Thr
NM_001285399.3:c.1054G>A	NP_001272328.1:p.Ala352Thr
NM_001285400.2:c.1024G>A	NP_001272329.1:p.Ala342Thr
NM_001285400.3:c.1024G>A	NP_001272329.1:p.Ala342Thr
NM_001285401.2:c.1018G>A	NP_001272330.1:p.Ala340Thr
NM_001285401.3:c.1018G>A	NP_001272330.1:p.Ala340Thr
NM_001285402.1:c.973G>A	NP_001272331.1:p.Ala325Thr
NM_001285402.2:c.973G>A	NP_001272331.1:p.Ala325Thr
NM_001285403.3:c.*1061G>A	NP_001272332.1:n.*1061G>A
NM_001285403.4:c.*1061G>A	NP_001272332.1:n.*1061G>A
NM_014336.4:c.1090G>A	NP_055151.3:p.Ala364Thr
ENST00000250087.9:c.901G>A	ENSP00000250087.5:p.Ala301Thr
ENST00000381128.2:c.*962G>A	ENSP00000370520.2:n.*962G>A
ENST00000381129.7:c.1090G>A	ENSP00000370521.3:p.Ala364Thr
ENST00000570466.5:c.1024G>A	ENSP00000461287.1:p.Ala342Thr
ENST00000570584.5:c.251+8394G>A
ENST00000574506.5:c.1054G>A	ENSP00000458456.1:p.Ala352Thr
ENST00000575265.5:c.*1061G>A	ENSP00000459673.1:n.*1061G>A
ENST00000576307.5:c.910G>A	ENSP00000459522.1:p.Ala304Thr
ENST00000576776.5:c.1018G>A	ENSP00000460827.1:p.Ala340Thr
ENST00000621374.4:c.*108G>A	ENSP00000481337.1:n.*108G>A