Canonical Allele Identifier: CA8328379

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425819C>A , CM000679.2:g.6425819C>A	GRCh38
NC_000017.10:g.6329139C>A , CM000679.1:g.6329139C>A	GRCh37
NC_000017.9:g.6269863C>A	NCBI36
NG_008474.1:g.14381G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.796G>T MANE Select	NP_055151.3:p.Ala266Ser
ENST00000381129.8:c.796G>T MANE Select	ENSP00000370521.3:p.Ala266Ser
NM_001033054.2:c.607G>T	NP_001028226.1:p.Ala203Ser
NM_001033054.3:c.607G>T	NP_001028226.1:p.Ala203Ser
NM_001033055.2:c.616G>T	NP_001028227.1:p.Ala206Ser
NM_001033055.3:c.616G>T	NP_001028227.1:p.Ala206Ser
NM_001285399.2:c.760G>T	NP_001272328.1:p.Ala254Ser
NM_001285399.3:c.760G>T	NP_001272328.1:p.Ala254Ser
NM_001285400.2:c.730G>T	NP_001272329.1:p.Ala244Ser
NM_001285400.3:c.730G>T	NP_001272329.1:p.Ala244Ser
NM_001285401.2:c.724G>T	NP_001272330.1:p.Ala242Ser
NM_001285401.3:c.724G>T	NP_001272330.1:p.Ala242Ser
NM_001285402.1:c.679G>T	NP_001272331.1:p.Ala227Ser
NM_001285402.2:c.679G>T	NP_001272331.1:p.Ala227Ser
NM_001285403.3:c.*767G>T	NP_001272332.1:n.*767G>T
NM_001285403.4:c.*767G>T	NP_001272332.1:n.*767G>T
NM_014336.4:c.796G>T	NP_055151.3:p.Ala266Ser
ENST00000250087.9:c.607G>T	ENSP00000250087.5:p.Ala203Ser
ENST00000381128.2:c.*668G>T	ENSP00000370520.2:n.*668G>T
ENST00000381129.7:c.796G>T	ENSP00000370521.3:p.Ala266Ser
ENST00000570466.5:c.730G>T	ENSP00000461287.1:p.Ala244Ser
ENST00000570584.5:c.251+8100G>T
ENST00000574506.5:c.760G>T	ENSP00000458456.1:p.Ala254Ser
ENST00000575265.5:c.*767G>T	ENSP00000459673.1:n.*767G>T
ENST00000576307.5:c.616G>T	ENSP00000459522.1:p.Ala206Ser
ENST00000576776.5:c.724G>T	ENSP00000460827.1:p.Ala242Ser
ENST00000621374.4:c.796G>T	ENSP00000481337.1:p.Ala266Ser