Canonical Allele Identifier: CA497687524

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426670C>T , CM000679.2:g.6426670C>T	GRCh38
NC_000017.10:g.6329990C>T , CM000679.1:g.6329990C>T	GRCh37
NC_000017.9:g.6270714C>T	NCBI36
NG_008474.1:g.13530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.729G>A MANE Select	NP_055151.3:p.Lys243=
ENST00000381129.8:c.729G>A MANE Select	ENSP00000370521.3:p.Lys243=
NM_001033054.2:c.540G>A	NP_001028226.1:p.Lys180=
NM_001033054.3:c.540G>A	NP_001028226.1:p.Lys180=
NM_001033055.2:c.549G>A	NP_001028227.1:p.Lys183=
NM_001033055.3:c.549G>A	NP_001028227.1:p.Lys183=
NM_001285399.2:c.693G>A	NP_001272328.1:p.Lys231=
NM_001285399.3:c.693G>A	NP_001272328.1:p.Lys231=
NM_001285400.2:c.663G>A	NP_001272329.1:p.Lys221=
NM_001285400.3:c.663G>A	NP_001272329.1:p.Lys221=
NM_001285401.2:c.657G>A	NP_001272330.1:p.Lys219=
NM_001285401.3:c.657G>A	NP_001272330.1:p.Lys219=
NM_001285402.1:c.612G>A	NP_001272331.1:p.Lys204=
NM_001285402.2:c.612G>A	NP_001272331.1:p.Lys204=
NM_001285403.2:c.705G>A	NP_001272332.1:p.Lys235=
NM_001285403.3:c.705G>A	NP_001272332.1:p.Lys235=
NM_001285403.4:c.705G>A	NP_001272332.1:p.Lys235=
NM_014336.4:c.729G>A	NP_055151.3:p.Lys243=
ENST00000250087.9:c.540G>A	ENSP00000250087.5:p.Lys180=
ENST00000381128.2:c.*601G>A	ENSP00000370520.2:n.*601G>A
ENST00000381129.7:c.729G>A	ENSP00000370521.3:p.Lys243=
ENST00000570466.5:c.663G>A	ENSP00000461287.1:p.Lys221=
ENST00000570584.5:c.251+7249G>A
ENST00000571740.5:c.705G>A	ENSP00000460134.1:p.Lys235=
ENST00000574506.5:c.693G>A	ENSP00000458456.1:p.Lys231=
ENST00000575265.5:c.729G>A	ENSP00000459673.1:p.Lys243=
ENST00000576307.5:c.549G>A	ENSP00000459522.1:p.Lys183=
ENST00000576776.5:c.657G>A	ENSP00000460827.1:p.Lys219=
ENST00000621374.4:c.729G>A	ENSP00000481337.1:p.Lys243=