Canonical Allele Identifier: CA2245346944

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911861658

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425679dup , CM000679.2:g.6425679dup	GRCh38
NC_000017.10:g.6328999dup , CM000679.1:g.6328999dup	GRCh37
NC_000017.9:g.6269723dup	NCBI36
NG_008474.1:g.14522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.937dup MANE Select	ENSP00000370521.3:p.Ala313GlyfsTer?
ENST00000250087.9:c.748dup	ENSP00000250087.5:p.Ala250GlyfsTer?
ENST00000381128.2:c.*809dup	ENSP00000370520.2:n.*809dup
ENST00000381129.7:c.937dup	ENSP00000370521.3:p.Ala313GlyfsTer?
ENST00000570466.5:c.871dup	ENSP00000461287.1:p.Ala291GlyfsTer?
ENST00000570584.5:c.251+8241dup
ENST00000574506.5:c.901dup	ENSP00000458456.1:p.Ala301GlyfsTer?
ENST00000575265.5:c.*908dup	ENSP00000459673.1:n.*908dup
ENST00000576307.5:c.757dup	ENSP00000459522.1:p.Ala253GlyfsTer?
ENST00000576776.5:c.865dup	ENSP00000460827.1:p.Ala289GlyfsTer?
ENST00000621374.4:c.936dup	ENSP00000481337.1:p.Arg313AlafsTer?
NM_001033054.2:c.748dup	NP_001028226.1:p.Ala250GlyfsTer?
NM_001033055.2:c.757dup	NP_001028227.1:p.Ala253GlyfsTer?
NM_001285399.2:c.901dup	NP_001272328.1:p.Ala301GlyfsTer?
NM_001285400.2:c.871dup	NP_001272329.1:p.Ala291GlyfsTer?
NM_001285401.2:c.865dup	NP_001272330.1:p.Ala289GlyfsTer?
NM_001285402.1:c.820dup	NP_001272331.1:p.Ala274GlyfsTer?
NM_014336.4:c.937dup	NP_055151.3:p.Ala313GlyfsTer?
NM_001033054.3:c.748dup	NP_001028226.1:p.Ala250GlyfsTer?
NM_001033055.3:c.757dup	NP_001028227.1:p.Ala253GlyfsTer?
NM_001285399.3:c.901dup	NP_001272328.1:p.Ala301GlyfsTer?
NM_001285400.3:c.871dup	NP_001272329.1:p.Ala291GlyfsTer?
NM_001285401.3:c.865dup	NP_001272330.1:p.Ala289GlyfsTer?
NM_001285402.2:c.820dup	NP_001272331.1:p.Ala274GlyfsTer?
NM_001285403.3:c.*908dup	NP_001272332.1:n.*908dup
NM_014336.5:c.937dup MANE Select	NP_055151.3:p.Ala313GlyfsTer?
NM_001285403.4:c.*908dup	NP_001272332.1:n.*908dup