Canonical Allele Identifier: CA397394848

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425789C>A , CM000679.2:g.6425789C>A	GRCh38
NC_000017.10:g.6329109C>A , CM000679.1:g.6329109C>A	GRCh37
NC_000017.9:g.6269833C>A	NCBI36
NG_008474.1:g.14411G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.826G>T MANE Select	NP_055151.3:p.Glu276Ter
ENST00000381129.8:c.826G>T MANE Select	ENSP00000370521.3:p.Glu276Ter
NM_001033054.2:c.637G>T	NP_001028226.1:p.Glu213Ter
NM_001033054.3:c.637G>T	NP_001028226.1:p.Glu213Ter
NM_001033055.2:c.646G>T	NP_001028227.1:p.Glu216Ter
NM_001033055.3:c.646G>T	NP_001028227.1:p.Glu216Ter
NM_001285399.2:c.790G>T	NP_001272328.1:p.Glu264Ter
NM_001285399.3:c.790G>T	NP_001272328.1:p.Glu264Ter
NM_001285400.2:c.760G>T	NP_001272329.1:p.Glu254Ter
NM_001285400.3:c.760G>T	NP_001272329.1:p.Glu254Ter
NM_001285401.2:c.754G>T	NP_001272330.1:p.Glu252Ter
NM_001285401.3:c.754G>T	NP_001272330.1:p.Glu252Ter
NM_001285402.1:c.709G>T	NP_001272331.1:p.Glu237Ter
NM_001285402.2:c.709G>T	NP_001272331.1:p.Glu237Ter
NM_001285403.3:c.*797G>T	NP_001272332.1:n.*797G>T
NM_001285403.4:c.*797G>T	NP_001272332.1:n.*797G>T
NM_014336.4:c.826G>T	NP_055151.3:p.Glu276Ter
ENST00000250087.9:c.637G>T	ENSP00000250087.5:p.Glu213Ter
ENST00000381128.2:c.*698G>T	ENSP00000370520.2:n.*698G>T
ENST00000381129.7:c.826G>T	ENSP00000370521.3:p.Glu276Ter
ENST00000570466.5:c.760G>T	ENSP00000461287.1:p.Glu254Ter
ENST00000570584.5:c.251+8130G>T
ENST00000574506.5:c.790G>T	ENSP00000458456.1:p.Glu264Ter
ENST00000575265.5:c.*797G>T	ENSP00000459673.1:n.*797G>T
ENST00000576307.5:c.646G>T	ENSP00000459522.1:p.Glu216Ter
ENST00000576776.5:c.754G>T	ENSP00000460827.1:p.Glu252Ter
ENST00000621374.4:c.826G>T	ENSP00000481337.1:p.Glu276Ter