Canonical Allele Identifier: CA397395475

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426951A>G , CM000679.2:g.6426951A>G	GRCh38
NC_000017.10:g.6330271A>G , CM000679.1:g.6330271A>G	GRCh37
NC_000017.9:g.6270995A>G	NCBI36
NG_008474.1:g.13249T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.572T>C MANE Select	NP_055151.3:p.Leu191Pro
ENST00000381129.8:c.572T>C MANE Select	ENSP00000370521.3:p.Leu191Pro
NM_001033054.2:c.383T>C	NP_001028226.1:p.Leu128Pro
NM_001033054.3:c.383T>C	NP_001028226.1:p.Leu128Pro
NM_001033055.2:c.392T>C	NP_001028227.1:p.Leu131Pro
NM_001033055.3:c.392T>C	NP_001028227.1:p.Leu131Pro
NM_001285399.2:c.536T>C	NP_001272328.1:p.Leu179Pro
NM_001285399.3:c.536T>C	NP_001272328.1:p.Leu179Pro
NM_001285400.2:c.506T>C	NP_001272329.1:p.Leu169Pro
NM_001285400.3:c.506T>C	NP_001272329.1:p.Leu169Pro
NM_001285401.2:c.572T>C	NP_001272330.1:p.Leu191Pro
NM_001285401.3:c.572T>C	NP_001272330.1:p.Leu191Pro
NM_001285402.1:c.455T>C	NP_001272331.1:p.Leu152Pro
NM_001285402.2:c.455T>C	NP_001272331.1:p.Leu152Pro
NM_001285403.2:c.548T>C	NP_001272332.1:p.Leu183Pro
NM_001285403.3:c.548T>C	NP_001272332.1:p.Leu183Pro
NM_001285403.4:c.548T>C	NP_001272332.1:p.Leu183Pro
NM_014336.4:c.572T>C	NP_055151.3:p.Leu191Pro
ENST00000250087.9:c.383T>C	ENSP00000250087.5:p.Leu128Pro
ENST00000381128.2:c.*444T>C	ENSP00000370520.2:n.*444T>C
ENST00000381129.7:c.572T>C	ENSP00000370521.3:p.Leu191Pro
ENST00000570466.5:c.506T>C	ENSP00000461287.1:p.Leu169Pro
ENST00000570584.5:c.251+6968T>C
ENST00000571740.5:c.548T>C	ENSP00000460134.1:p.Leu183Pro
ENST00000574506.5:c.536T>C	ENSP00000458456.1:p.Leu179Pro
ENST00000574913.1:c.584T>C	ENSP00000460672.1:p.Leu195Pro
ENST00000575265.5:c.572T>C	ENSP00000459673.1:p.Leu191Pro
ENST00000576307.5:c.392T>C	ENSP00000459522.1:p.Leu131Pro
ENST00000576776.5:c.572T>C	ENSP00000460827.1:p.Leu191Pro
ENST00000621374.4:c.572T>C	ENSP00000481337.1:p.Leu191Pro