Canonical Allele Identifier: CA397394556

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328978C>T (hg19) ; chr17:g.6425658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425658C>T , CM000679.2:g.6425658C>T	GRCh38
NC_000017.10:g.6328978C>T , CM000679.1:g.6328978C>T	GRCh37
NC_000017.9:g.6269702C>T	NCBI36
NG_008474.1:g.14542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.957G>A MANE Select	ENSP00000370521.3:p.Glu319=
ENST00000250087.9:c.768G>A	ENSP00000250087.5:p.Glu256=
ENST00000381128.2:c.*829G>A	ENSP00000370520.2:n.*829G>A
ENST00000381129.7:c.957G>A	ENSP00000370521.3:p.Glu319=
ENST00000570466.5:c.891G>A	ENSP00000461287.1:p.Glu297=
ENST00000570584.5:c.251+8261G>A
ENST00000574506.5:c.921G>A	ENSP00000458456.1:p.Glu307=
ENST00000575265.5:c.*928G>A	ENSP00000459673.1:n.*928G>A
ENST00000576307.5:c.777G>A	ENSP00000459522.1:p.Glu259=
ENST00000576776.5:c.885G>A	ENSP00000460827.1:p.Glu295=
ENST00000621374.4:c.956G>A	ENSP00000481337.1:p.Ser319Asn
NM_001033054.2:c.768G>A	NP_001028226.1:p.Glu256=
NM_001033055.2:c.777G>A	NP_001028227.1:p.Glu259=
NM_001285399.2:c.921G>A	NP_001272328.1:p.Glu307=
NM_001285400.2:c.891G>A	NP_001272329.1:p.Glu297=
NM_001285401.2:c.885G>A	NP_001272330.1:p.Glu295=
NM_001285402.1:c.840G>A	NP_001272331.1:p.Glu280=
NM_014336.4:c.957G>A	NP_055151.3:p.Glu319=
NM_001033054.3:c.768G>A	NP_001028226.1:p.Glu256=
NM_001033055.3:c.777G>A	NP_001028227.1:p.Glu259=
NM_001285399.3:c.921G>A	NP_001272328.1:p.Glu307=
NM_001285400.3:c.891G>A	NP_001272329.1:p.Glu297=
NM_001285401.3:c.885G>A	NP_001272330.1:p.Glu295=
NM_001285402.2:c.840G>A	NP_001272331.1:p.Glu280=
NM_001285403.3:c.*928G>A	NP_001272332.1:n.*928G>A
NM_014336.5:c.957G>A MANE Select	NP_055151.3:p.Glu319=
NM_001285403.4:c.*928G>A	NP_001272332.1:n.*928G>A