Canonical Allele Identifier: CA497687279
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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