Canonical Allele Identifier: CA287323813

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425676C>T , CM000679.2:g.6425676C>T	GRCh38
NC_000017.10:g.6328996C>T , CM000679.1:g.6328996C>T	GRCh37
NC_000017.9:g.6269720C>T	NCBI36
NG_008474.1:g.14524G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.939G>A MANE Select	NP_055151.3:p.Ala313=
ENST00000381129.8:c.939G>A MANE Select	ENSP00000370521.3:p.Ala313=
NM_001033054.2:c.750G>A	NP_001028226.1:p.Ala250=
NM_001033054.3:c.750G>A	NP_001028226.1:p.Ala250=
NM_001033055.2:c.759G>A	NP_001028227.1:p.Ala253=
NM_001033055.3:c.759G>A	NP_001028227.1:p.Ala253=
NM_001285399.2:c.903G>A	NP_001272328.1:p.Ala301=
NM_001285399.3:c.903G>A	NP_001272328.1:p.Ala301=
NM_001285400.2:c.873G>A	NP_001272329.1:p.Ala291=
NM_001285400.3:c.873G>A	NP_001272329.1:p.Ala291=
NM_001285401.2:c.867G>A	NP_001272330.1:p.Ala289=
NM_001285401.3:c.867G>A	NP_001272330.1:p.Ala289=
NM_001285402.1:c.822G>A	NP_001272331.1:p.Ala274=
NM_001285402.2:c.822G>A	NP_001272331.1:p.Ala274=
NM_001285403.3:c.*910G>A	NP_001272332.1:n.*910G>A
NM_001285403.4:c.*910G>A	NP_001272332.1:n.*910G>A
NM_014336.4:c.939G>A	NP_055151.3:p.Ala313=
ENST00000250087.9:c.750G>A	ENSP00000250087.5:p.Ala250=
ENST00000381128.2:c.*811G>A	ENSP00000370520.2:n.*811G>A
ENST00000381129.7:c.939G>A	ENSP00000370521.3:p.Ala313=
ENST00000570466.5:c.873G>A	ENSP00000461287.1:p.Ala291=
ENST00000570584.5:c.251+8243G>A
ENST00000574506.5:c.903G>A	ENSP00000458456.1:p.Ala301=
ENST00000575265.5:c.*910G>A	ENSP00000459673.1:n.*910G>A
ENST00000576307.5:c.759G>A	ENSP00000459522.1:p.Ala253=
ENST00000576776.5:c.867G>A	ENSP00000460827.1:p.Ala289=
ENST00000621374.4:c.938G>A	ENSP00000481337.1:p.Arg313Gln