Canonical Allele Identifier: CA397395526

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426976C>A , CM000679.2:g.6426976C>A	GRCh38
NC_000017.10:g.6330296C>A , CM000679.1:g.6330296C>A	GRCh37
NC_000017.9:g.6271020C>A	NCBI36
NG_008474.1:g.13224G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.547G>T MANE Select	NP_055151.3:p.Gly183Ter
ENST00000381129.8:c.547G>T MANE Select	ENSP00000370521.3:p.Gly183Ter
NM_001033054.2:c.358G>T	NP_001028226.1:p.Gly120Ter
NM_001033054.3:c.358G>T	NP_001028226.1:p.Gly120Ter
NM_001033055.2:c.367G>T	NP_001028227.1:p.Gly123Ter
NM_001033055.3:c.367G>T	NP_001028227.1:p.Gly123Ter
NM_001285399.2:c.511G>T	NP_001272328.1:p.Gly171Ter
NM_001285399.3:c.511G>T	NP_001272328.1:p.Gly171Ter
NM_001285400.2:c.481G>T	NP_001272329.1:p.Gly161Ter
NM_001285400.3:c.481G>T	NP_001272329.1:p.Gly161Ter
NM_001285401.2:c.547G>T	NP_001272330.1:p.Gly183Ter
NM_001285401.3:c.547G>T	NP_001272330.1:p.Gly183Ter
NM_001285402.1:c.430G>T	NP_001272331.1:p.Gly144Ter
NM_001285402.2:c.430G>T	NP_001272331.1:p.Gly144Ter
NM_001285403.2:c.523G>T	NP_001272332.1:p.Gly175Ter
NM_001285403.3:c.523G>T	NP_001272332.1:p.Gly175Ter
NM_001285403.4:c.523G>T	NP_001272332.1:p.Gly175Ter
NM_014336.4:c.547G>T	NP_055151.3:p.Gly183Ter
ENST00000250087.9:c.358G>T	ENSP00000250087.5:p.Gly120Ter
ENST00000381128.2:c.*419G>T	ENSP00000370520.2:n.*419G>T
ENST00000381129.7:c.547G>T	ENSP00000370521.3:p.Gly183Ter
ENST00000570466.5:c.481G>T	ENSP00000461287.1:p.Gly161Ter
ENST00000570584.5:c.251+6943G>T
ENST00000571740.5:c.523G>T	ENSP00000460134.1:p.Gly175Ter
ENST00000574506.5:c.511G>T	ENSP00000458456.1:p.Gly171Ter
ENST00000574913.1:c.559G>T	ENSP00000460672.1:p.Gly187Ter
ENST00000575265.5:c.547G>T	ENSP00000459673.1:p.Gly183Ter
ENST00000576307.5:c.367G>T	ENSP00000459522.1:p.Gly123Ter
ENST00000576776.5:c.547G>T	ENSP00000460827.1:p.Gly183Ter
ENST00000621374.4:c.547G>T	ENSP00000481337.1:p.Gly183Ter