Canonical Allele Identifier: CA397394497

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328954C>G (hg19) ; chr17:g.6425634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425634C>G , CM000679.2:g.6425634C>G	GRCh38
NC_000017.10:g.6328954C>G , CM000679.1:g.6328954C>G	GRCh37
NC_000017.9:g.6269678C>G	NCBI36
NG_008474.1:g.14566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.981G>C MANE Select	ENSP00000370521.3:p.Leu327=
ENST00000250087.9:c.792G>C	ENSP00000250087.5:p.Leu264=
ENST00000381128.2:c.*853G>C	ENSP00000370520.2:n.*853G>C
ENST00000381129.7:c.981G>C	ENSP00000370521.3:p.Leu327=
ENST00000570466.5:c.915G>C	ENSP00000461287.1:p.Leu305=
ENST00000570584.5:c.251+8285G>C
ENST00000574506.5:c.945G>C	ENSP00000458456.1:p.Leu315=
ENST00000575265.5:c.*952G>C	ENSP00000459673.1:n.*952G>C
ENST00000576307.5:c.801G>C	ENSP00000459522.1:p.Leu267=
ENST00000576776.5:c.909G>C	ENSP00000460827.1:p.Leu303=
ENST00000621374.4:c.980G>C	ENSP00000481337.1:p.Ter327Ser
NM_001033054.2:c.792G>C	NP_001028226.1:p.Leu264=
NM_001033055.2:c.801G>C	NP_001028227.1:p.Leu267=
NM_001285399.2:c.945G>C	NP_001272328.1:p.Leu315=
NM_001285400.2:c.915G>C	NP_001272329.1:p.Leu305=
NM_001285401.2:c.909G>C	NP_001272330.1:p.Leu303=
NM_001285402.1:c.864G>C	NP_001272331.1:p.Leu288=
NM_014336.4:c.981G>C	NP_055151.3:p.Leu327=
NM_001033054.3:c.792G>C	NP_001028226.1:p.Leu264=
NM_001033055.3:c.801G>C	NP_001028227.1:p.Leu267=
NM_001285399.3:c.945G>C	NP_001272328.1:p.Leu315=
NM_001285400.3:c.915G>C	NP_001272329.1:p.Leu305=
NM_001285401.3:c.909G>C	NP_001272330.1:p.Leu303=
NM_001285402.2:c.864G>C	NP_001272331.1:p.Leu288=
NM_001285403.3:c.*952G>C	NP_001272332.1:n.*952G>C
NM_014336.5:c.981G>C MANE Select	NP_055151.3:p.Leu327=
NM_001285403.4:c.*952G>C	NP_001272332.1:n.*952G>C