Canonical Allele Identifier: CA397394477

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328946C>G (hg19) ; chr17:g.6425626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425626C>G , CM000679.2:g.6425626C>G	GRCh38
NC_000017.10:g.6328946C>G , CM000679.1:g.6328946C>G	GRCh37
NC_000017.9:g.6269670C>G	NCBI36
NG_008474.1:g.14574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.989G>C MANE Select	ENSP00000370521.3:p.Gly330Ala
ENST00000250087.9:c.800G>C	ENSP00000250087.5:p.Gly267Ala
ENST00000381128.2:c.*861G>C	ENSP00000370520.2:n.*861G>C
ENST00000381129.7:c.989G>C	ENSP00000370521.3:p.Gly330Ala
ENST00000570466.5:c.923G>C	ENSP00000461287.1:p.Gly308Ala
ENST00000570584.5:c.251+8293G>C
ENST00000574506.5:c.953G>C	ENSP00000458456.1:p.Gly318Ala
ENST00000575265.5:c.*960G>C	ENSP00000459673.1:n.*960G>C
ENST00000576307.5:c.809G>C	ENSP00000459522.1:p.Gly270Ala
ENST00000576776.5:c.917G>C	ENSP00000460827.1:p.Gly306Ala
ENST00000621374.4:c.*7G>C	ENSP00000481337.1:n.*7G>C
NM_001033054.2:c.800G>C	NP_001028226.1:p.Gly267Ala
NM_001033055.2:c.809G>C	NP_001028227.1:p.Gly270Ala
NM_001285399.2:c.953G>C	NP_001272328.1:p.Gly318Ala
NM_001285400.2:c.923G>C	NP_001272329.1:p.Gly308Ala
NM_001285401.2:c.917G>C	NP_001272330.1:p.Gly306Ala
NM_001285402.1:c.872G>C	NP_001272331.1:p.Gly291Ala
NM_014336.4:c.989G>C	NP_055151.3:p.Gly330Ala
NM_001033054.3:c.800G>C	NP_001028226.1:p.Gly267Ala
NM_001033055.3:c.809G>C	NP_001028227.1:p.Gly270Ala
NM_001285399.3:c.953G>C	NP_001272328.1:p.Gly318Ala
NM_001285400.3:c.923G>C	NP_001272329.1:p.Gly308Ala
NM_001285401.3:c.917G>C	NP_001272330.1:p.Gly306Ala
NM_001285402.2:c.872G>C	NP_001272331.1:p.Gly291Ala
NM_001285403.3:c.*960G>C	NP_001272332.1:n.*960G>C
NM_014336.5:c.989G>C MANE Select	NP_055151.3:p.Gly330Ala
NM_001285403.4:c.*960G>C	NP_001272332.1:n.*960G>C