Canonical Allele Identifier: CA2808334089

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425182T>A , CM000679.2:g.6425182T>A	GRCh38
NC_000017.10:g.6328502T>A , CM000679.1:g.6328502T>A	GRCh37
NC_000017.9:g.6269226T>A	NCBI36
NG_008474.1:g.15018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*278A>T MANE Select	ENSP00000370521.3:n.*278A>T
ENST00000250087.9:c.*278A>T	ENSP00000250087.5:n.*278A>T
ENST00000381128.2:c.*1305A>T	ENSP00000370520.2:n.*1305A>T
ENST00000381129.7:c.*278A>T	ENSP00000370521.3:n.*278A>T
ENST00000570584.5:c.251+8737A>T
ENST00000574506.5:c.*278A>T	ENSP00000458456.1:n.*278A>T
NM_001033054.2:c.*278A>T	NP_001028226.1:n.*278A>T
NM_001033055.2:c.*278A>T	NP_001028227.1:n.*278A>T
NM_001285399.2:c.*278A>T	NP_001272328.1:n.*278A>T
NM_001285400.2:c.*278A>T	NP_001272329.1:n.*278A>T
NM_001285401.2:c.*278A>T	NP_001272330.1:n.*278A>T
NM_001285402.1:c.*278A>T	NP_001272331.1:n.*278A>T
NM_014336.4:c.*278A>T	NP_055151.3:n.*278A>T
NM_001033054.3:c.*278A>T	NP_001028226.1:n.*278A>T
NM_001033055.3:c.*278A>T	NP_001028227.1:n.*278A>T
NM_001285399.3:c.*278A>T	NP_001272328.1:n.*278A>T
NM_001285400.3:c.*278A>T	NP_001272329.1:n.*278A>T
NM_001285401.3:c.*278A>T	NP_001272330.1:n.*278A>T
NM_001285402.2:c.*278A>T	NP_001272331.1:n.*278A>T
NM_014336.5:c.*278A>T MANE Select	NP_055151.3:n.*278A>T