Canonical Allele Identifier: CA497687278

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425487C>A , CM000679.2:g.6425487C>A	GRCh38
NC_000017.10:g.6328807C>A , CM000679.1:g.6328807C>A	GRCh37
NC_000017.9:g.6269531C>A	NCBI36
NG_008474.1:g.14713G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.1128G>T MANE Select	NP_055151.3:p.Pro376=
ENST00000381129.8:c.1128G>T MANE Select	ENSP00000370521.3:p.Pro376=
NM_001033054.2:c.939G>T	NP_001028226.1:p.Pro313=
NM_001033054.3:c.939G>T	NP_001028226.1:p.Pro313=
NM_001033055.2:c.948G>T	NP_001028227.1:p.Pro316=
NM_001033055.3:c.948G>T	NP_001028227.1:p.Pro316=
NM_001285399.2:c.1092G>T	NP_001272328.1:p.Pro364=
NM_001285399.3:c.1092G>T	NP_001272328.1:p.Pro364=
NM_001285400.2:c.1062G>T	NP_001272329.1:p.Pro354=
NM_001285400.3:c.1062G>T	NP_001272329.1:p.Pro354=
NM_001285401.2:c.1056G>T	NP_001272330.1:p.Pro352=
NM_001285401.3:c.1056G>T	NP_001272330.1:p.Pro352=
NM_001285402.1:c.1011G>T	NP_001272331.1:p.Pro337=
NM_001285402.2:c.1011G>T	NP_001272331.1:p.Pro337=
NM_001285403.3:c.*1099G>T	NP_001272332.1:n.*1099G>T
NM_001285403.4:c.*1099G>T	NP_001272332.1:n.*1099G>T
NM_014336.4:c.1128G>T	NP_055151.3:p.Pro376=
ENST00000250087.9:c.939G>T	ENSP00000250087.5:p.Pro313=
ENST00000381128.2:c.*1000G>T	ENSP00000370520.2:n.*1000G>T
ENST00000381129.7:c.1128G>T	ENSP00000370521.3:p.Pro376=
ENST00000570466.5:c.1062G>T	ENSP00000461287.1:p.Pro354=
ENST00000570584.5:c.251+8432G>T
ENST00000574506.5:c.1092G>T	ENSP00000458456.1:p.Pro364=
ENST00000575265.5:c.*1099G>T	ENSP00000459673.1:n.*1099G>T
ENST00000576307.5:c.948G>T	ENSP00000459522.1:p.Pro316=
ENST00000576776.5:c.1056G>T	ENSP00000460827.1:p.Pro352=
ENST00000621374.4:c.*146G>T	ENSP00000481337.1:n.*146G>T