Canonical Allele Identifier: CA397394656

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425698C>T , CM000679.2:g.6425698C>T	GRCh38
NC_000017.10:g.6329018C>T , CM000679.1:g.6329018C>T	GRCh37
NC_000017.9:g.6269742C>T	NCBI36
NG_008474.1:g.14502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.917G>A MANE Select	ENSP00000370521.3:p.Arg306Lys
ENST00000250087.9:c.728G>A	ENSP00000250087.5:p.Arg243Lys
ENST00000381128.2:c.*789G>A	ENSP00000370520.2:n.*789G>A
ENST00000381129.7:c.917G>A	ENSP00000370521.3:p.Arg306Lys
ENST00000570466.5:c.851G>A	ENSP00000461287.1:p.Arg284Lys
ENST00000570584.5:c.251+8221G>A
ENST00000574506.5:c.881G>A	ENSP00000458456.1:p.Arg294Lys
ENST00000575265.5:c.*888G>A	ENSP00000459673.1:n.*888G>A
ENST00000576307.5:c.737G>A	ENSP00000459522.1:p.Arg246Lys
ENST00000576776.5:c.845G>A	ENSP00000460827.1:p.Arg282Lys
ENST00000621374.4:c.917G>A	ENSP00000481337.1:p.Arg306Lys
NM_001033054.2:c.728G>A	NP_001028226.1:p.Arg243Lys
NM_001033055.2:c.737G>A	NP_001028227.1:p.Arg246Lys
NM_001285399.2:c.881G>A	NP_001272328.1:p.Arg294Lys
NM_001285400.2:c.851G>A	NP_001272329.1:p.Arg284Lys
NM_001285401.2:c.845G>A	NP_001272330.1:p.Arg282Lys
NM_001285402.1:c.800G>A	NP_001272331.1:p.Arg267Lys
NM_014336.4:c.917G>A	NP_055151.3:p.Arg306Lys
NM_001033054.3:c.728G>A	NP_001028226.1:p.Arg243Lys
NM_001033055.3:c.737G>A	NP_001028227.1:p.Arg246Lys
NM_001285399.3:c.881G>A	NP_001272328.1:p.Arg294Lys
NM_001285400.3:c.851G>A	NP_001272329.1:p.Arg284Lys
NM_001285401.3:c.845G>A	NP_001272330.1:p.Arg282Lys
NM_001285402.2:c.800G>A	NP_001272331.1:p.Arg267Lys
NM_001285403.3:c.*888G>A	NP_001272332.1:n.*888G>A
NM_014336.5:c.917G>A MANE Select	NP_055151.3:p.Arg306Lys
NM_001285403.4:c.*888G>A	NP_001272332.1:n.*888G>A