Canonical Allele Identifier: CA497687331

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328867T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425547T>A , CM000679.2:g.6425547T>A	GRCh38
NC_000017.10:g.6328867T>A , CM000679.1:g.6328867T>A	GRCh37
NC_000017.9:g.6269591T>A	NCBI36
NG_008474.1:g.14653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1068A>T MANE Select	ENSP00000370521.3:p.Thr356=
ENST00000250087.9:c.879A>T	ENSP00000250087.5:p.Thr293=
ENST00000381128.2:c.*940A>T	ENSP00000370520.2:n.*940A>T
ENST00000381129.7:c.1068A>T	ENSP00000370521.3:p.Thr356=
ENST00000570466.5:c.1002A>T	ENSP00000461287.1:p.Thr334=
ENST00000570584.5:c.251+8372A>T
ENST00000574506.5:c.1032A>T	ENSP00000458456.1:p.Thr344=
ENST00000575265.5:c.*1039A>T	ENSP00000459673.1:n.*1039A>T
ENST00000576307.5:c.888A>T	ENSP00000459522.1:p.Thr296=
ENST00000576776.5:c.996A>T	ENSP00000460827.1:p.Thr332=
ENST00000621374.4:c.*86A>T	ENSP00000481337.1:n.*86A>T
NM_001033054.2:c.879A>T	NP_001028226.1:p.Thr293=
NM_001033055.2:c.888A>T	NP_001028227.1:p.Thr296=
NM_001285399.2:c.1032A>T	NP_001272328.1:p.Thr344=
NM_001285400.2:c.1002A>T	NP_001272329.1:p.Thr334=
NM_001285401.2:c.996A>T	NP_001272330.1:p.Thr332=
NM_001285402.1:c.951A>T	NP_001272331.1:p.Thr317=
NM_014336.4:c.1068A>T	NP_055151.3:p.Thr356=
NM_001033054.3:c.879A>T	NP_001028226.1:p.Thr293=
NM_001033055.3:c.888A>T	NP_001028227.1:p.Thr296=
NM_001285399.3:c.1032A>T	NP_001272328.1:p.Thr344=
NM_001285400.3:c.1002A>T	NP_001272329.1:p.Thr334=
NM_001285401.3:c.996A>T	NP_001272330.1:p.Thr332=
NM_001285402.2:c.951A>T	NP_001272331.1:p.Thr317=
NM_001285403.3:c.*1039A>T	NP_001272332.1:n.*1039A>T
NM_014336.5:c.1068A>T MANE Select	NP_055151.3:p.Thr356=
NM_001285403.4:c.*1039A>T	NP_001272332.1:n.*1039A>T