Canonical Allele Identifier: CA397394411

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328912C>A (hg19) ; chr17:g.6425592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425592C>A , CM000679.2:g.6425592C>A	GRCh38
NC_000017.10:g.6328912C>A , CM000679.1:g.6328912C>A	GRCh37
NC_000017.9:g.6269636C>A	NCBI36
NG_008474.1:g.14608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1023G>T MANE Select	ENSP00000370521.3:p.Glu341Asp
ENST00000250087.9:c.834G>T	ENSP00000250087.5:p.Glu278Asp
ENST00000381128.2:c.*895G>T	ENSP00000370520.2:n.*895G>T
ENST00000381129.7:c.1023G>T	ENSP00000370521.3:p.Glu341Asp
ENST00000570466.5:c.957G>T	ENSP00000461287.1:p.Glu319Asp
ENST00000570584.5:c.251+8327G>T
ENST00000574506.5:c.987G>T	ENSP00000458456.1:p.Glu329Asp
ENST00000575265.5:c.*994G>T	ENSP00000459673.1:n.*994G>T
ENST00000576307.5:c.843G>T	ENSP00000459522.1:p.Glu281Asp
ENST00000576776.5:c.951G>T	ENSP00000460827.1:p.Glu317Asp
ENST00000621374.4:c.*41G>T	ENSP00000481337.1:n.*41G>T
NM_001033054.2:c.834G>T	NP_001028226.1:p.Glu278Asp
NM_001033055.2:c.843G>T	NP_001028227.1:p.Glu281Asp
NM_001285399.2:c.987G>T	NP_001272328.1:p.Glu329Asp
NM_001285400.2:c.957G>T	NP_001272329.1:p.Glu319Asp
NM_001285401.2:c.951G>T	NP_001272330.1:p.Glu317Asp
NM_001285402.1:c.906G>T	NP_001272331.1:p.Glu302Asp
NM_014336.4:c.1023G>T	NP_055151.3:p.Glu341Asp
NM_001033054.3:c.834G>T	NP_001028226.1:p.Glu278Asp
NM_001033055.3:c.843G>T	NP_001028227.1:p.Glu281Asp
NM_001285399.3:c.987G>T	NP_001272328.1:p.Glu329Asp
NM_001285400.3:c.957G>T	NP_001272329.1:p.Glu319Asp
NM_001285401.3:c.951G>T	NP_001272330.1:p.Glu317Asp
NM_001285402.2:c.906G>T	NP_001272331.1:p.Glu302Asp
NM_001285403.3:c.*994G>T	NP_001272332.1:n.*994G>T
NM_014336.5:c.1023G>T MANE Select	NP_055151.3:p.Glu341Asp
NM_001285403.4:c.*994G>T	NP_001272332.1:n.*994G>T