Canonical Allele Identifier: CA397394498

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328955A>C (hg19) ; chr17:g.6425635A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425635A>C , CM000679.2:g.6425635A>C	GRCh38
NC_000017.10:g.6328955A>C , CM000679.1:g.6328955A>C	GRCh37
NC_000017.9:g.6269679A>C	NCBI36
NG_008474.1:g.14565T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.980T>G MANE Select	ENSP00000370521.3:p.Leu327Arg
ENST00000250087.9:c.791T>G	ENSP00000250087.5:p.Leu264Arg
ENST00000381128.2:c.*852T>G	ENSP00000370520.2:n.*852T>G
ENST00000381129.7:c.980T>G	ENSP00000370521.3:p.Leu327Arg
ENST00000570466.5:c.914T>G	ENSP00000461287.1:p.Leu305Arg
ENST00000570584.5:c.251+8284T>G
ENST00000574506.5:c.944T>G	ENSP00000458456.1:p.Leu315Arg
ENST00000575265.5:c.*951T>G	ENSP00000459673.1:n.*951T>G
ENST00000576307.5:c.800T>G	ENSP00000459522.1:p.Leu267Arg
ENST00000576776.5:c.908T>G	ENSP00000460827.1:p.Leu303Arg
ENST00000621374.4:c.979T>G	ENSP00000481337.1:p.Ter327Gly
NM_001033054.2:c.791T>G	NP_001028226.1:p.Leu264Arg
NM_001033055.2:c.800T>G	NP_001028227.1:p.Leu267Arg
NM_001285399.2:c.944T>G	NP_001272328.1:p.Leu315Arg
NM_001285400.2:c.914T>G	NP_001272329.1:p.Leu305Arg
NM_001285401.2:c.908T>G	NP_001272330.1:p.Leu303Arg
NM_001285402.1:c.863T>G	NP_001272331.1:p.Leu288Arg
NM_014336.4:c.980T>G	NP_055151.3:p.Leu327Arg
NM_001033054.3:c.791T>G	NP_001028226.1:p.Leu264Arg
NM_001033055.3:c.800T>G	NP_001028227.1:p.Leu267Arg
NM_001285399.3:c.944T>G	NP_001272328.1:p.Leu315Arg
NM_001285400.3:c.914T>G	NP_001272329.1:p.Leu305Arg
NM_001285401.3:c.908T>G	NP_001272330.1:p.Leu303Arg
NM_001285402.2:c.863T>G	NP_001272331.1:p.Leu288Arg
NM_001285403.3:c.*951T>G	NP_001272332.1:n.*951T>G
NM_014336.5:c.980T>G MANE Select	NP_055151.3:p.Leu327Arg
NM_001285403.4:c.*951T>G	NP_001272332.1:n.*951T>G