Canonical Allele Identifier: CA397394417

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328914C>G (hg19) ; chr17:g.6425594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425594C>G , CM000679.2:g.6425594C>G	GRCh38
NC_000017.10:g.6328914C>G , CM000679.1:g.6328914C>G	GRCh37
NC_000017.9:g.6269638C>G	NCBI36
NG_008474.1:g.14606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1021G>C MANE Select	ENSP00000370521.3:p.Glu341Gln
ENST00000250087.9:c.832G>C	ENSP00000250087.5:p.Glu278Gln
ENST00000381128.2:c.*893G>C	ENSP00000370520.2:n.*893G>C
ENST00000381129.7:c.1021G>C	ENSP00000370521.3:p.Glu341Gln
ENST00000570466.5:c.955G>C	ENSP00000461287.1:p.Glu319Gln
ENST00000570584.5:c.251+8325G>C
ENST00000574506.5:c.985G>C	ENSP00000458456.1:p.Glu329Gln
ENST00000575265.5:c.*992G>C	ENSP00000459673.1:n.*992G>C
ENST00000576307.5:c.841G>C	ENSP00000459522.1:p.Glu281Gln
ENST00000576776.5:c.949G>C	ENSP00000460827.1:p.Glu317Gln
ENST00000621374.4:c.*39G>C	ENSP00000481337.1:n.*39G>C
NM_001033054.2:c.832G>C	NP_001028226.1:p.Glu278Gln
NM_001033055.2:c.841G>C	NP_001028227.1:p.Glu281Gln
NM_001285399.2:c.985G>C	NP_001272328.1:p.Glu329Gln
NM_001285400.2:c.955G>C	NP_001272329.1:p.Glu319Gln
NM_001285401.2:c.949G>C	NP_001272330.1:p.Glu317Gln
NM_001285402.1:c.904G>C	NP_001272331.1:p.Glu302Gln
NM_014336.4:c.1021G>C	NP_055151.3:p.Glu341Gln
NM_001033054.3:c.832G>C	NP_001028226.1:p.Glu278Gln
NM_001033055.3:c.841G>C	NP_001028227.1:p.Glu281Gln
NM_001285399.3:c.985G>C	NP_001272328.1:p.Glu329Gln
NM_001285400.3:c.955G>C	NP_001272329.1:p.Glu319Gln
NM_001285401.3:c.949G>C	NP_001272330.1:p.Glu317Gln
NM_001285402.2:c.904G>C	NP_001272331.1:p.Glu302Gln
NM_001285403.3:c.*992G>C	NP_001272332.1:n.*992G>C
NM_014336.5:c.1021G>C MANE Select	NP_055151.3:p.Glu341Gln
NM_001285403.4:c.*992G>C	NP_001272332.1:n.*992G>C