Canonical Allele Identifier: CA287324594

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426636C>A , CM000679.2:g.6426636C>A	GRCh38
NC_000017.10:g.6329956C>A , CM000679.1:g.6329956C>A	GRCh37
NC_000017.9:g.6270680C>A	NCBI36
NG_008474.1:g.13564G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.763G>T MANE Select	NP_055151.3:p.Asp255Tyr
ENST00000381129.8:c.763G>T MANE Select	ENSP00000370521.3:p.Asp255Tyr
NM_001033054.2:c.574G>T	NP_001028226.1:p.Asp192Tyr
NM_001033054.3:c.574G>T	NP_001028226.1:p.Asp192Tyr
NM_001033055.2:c.583G>T	NP_001028227.1:p.Asp195Tyr
NM_001033055.3:c.583G>T	NP_001028227.1:p.Asp195Tyr
NM_001285399.2:c.727G>T	NP_001272328.1:p.Asp243Tyr
NM_001285399.3:c.727G>T	NP_001272328.1:p.Asp243Tyr
NM_001285400.2:c.697G>T	NP_001272329.1:p.Asp233Tyr
NM_001285400.3:c.697G>T	NP_001272329.1:p.Asp233Tyr
NM_001285401.2:c.691G>T	NP_001272330.1:p.Asp231Tyr
NM_001285401.3:c.691G>T	NP_001272330.1:p.Asp231Tyr
NM_001285402.1:c.646G>T	NP_001272331.1:p.Asp216Tyr
NM_001285402.2:c.646G>T	NP_001272331.1:p.Asp216Tyr
NM_001285403.2:c.739G>T	NP_001272332.1:p.Asp247Tyr
NM_001285403.3:c.739G>T	NP_001272332.1:p.Asp247Tyr
NM_001285403.4:c.739G>T	NP_001272332.1:p.Asp247Tyr
NM_014336.4:c.763G>T	NP_055151.3:p.Asp255Tyr
ENST00000250087.9:c.574G>T	ENSP00000250087.5:p.Asp192Tyr
ENST00000381128.2:c.*635G>T	ENSP00000370520.2:n.*635G>T
ENST00000381129.7:c.763G>T	ENSP00000370521.3:p.Asp255Tyr
ENST00000570466.5:c.697G>T	ENSP00000461287.1:p.Asp233Tyr
ENST00000570584.5:c.251+7283G>T
ENST00000571740.5:c.739G>T	ENSP00000460134.1:p.Asp247Tyr
ENST00000574506.5:c.727G>T	ENSP00000458456.1:p.Asp243Tyr
ENST00000575265.5:c.763G>T	ENSP00000459673.1:p.Asp255Tyr
ENST00000576307.5:c.583G>T	ENSP00000459522.1:p.Asp195Tyr
ENST00000576776.5:c.691G>T	ENSP00000460827.1:p.Asp231Tyr
ENST00000621374.4:c.763G>T	ENSP00000481337.1:p.Asp255Tyr