Canonical Allele Identifier: CA397394209
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425486A>G , CM000679.2:g.6425486A>G GRCh38
NC_000017.10:g.6328806A>G , CM000679.1:g.6328806A>G GRCh37
NC_000017.9:g.6269530A>G NCBI36
NG_008474.1:g.14714T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1129T>C MANE Select ENSP00000370521.3:p.Ser377Pro
ENST00000250087.9:c.940T>C ENSP00000250087.5:p.Ser314Pro
ENST00000381128.2:c.*1001T>C ENSP00000370520.2:p.=
ENST00000381129.7:c.1129T>C ENSP00000370521.3:p.Ser377Pro
ENST00000570466.5:c.1063T>C ENSP00000461287.1:p.Ser355Pro
ENST00000570584.5:n.251+8433T>C
ENST00000574506.5:c.1093T>C ENSP00000458456.1:p.Ser365Pro
ENST00000575265.5:c.*1100T>C ENSP00000459673.1:p.=
ENST00000576307.5:c.949T>C ENSP00000459522.1:p.Ser317Pro
ENST00000576776.5:c.1057T>C ENSP00000460827.1:p.Ser353Pro
ENST00000621374.4:c.*147T>C ENSP00000481337.1:p.=
NM_001033054.2:c.940T>C NP_001028226.1:p.Ser314Pro
NM_001033055.2:c.949T>C NP_001028227.1:p.Ser317Pro
NM_001285399.2:c.1093T>C NP_001272328.1:p.Ser365Pro
NM_001285400.2:c.1063T>C NP_001272329.1:p.Ser355Pro
NM_001285401.2:c.1057T>C NP_001272330.1:p.Ser353Pro
NM_001285402.1:c.1012T>C NP_001272331.1:p.Ser338Pro
NM_014336.4:c.1129T>C NP_055151.3:p.Ser377Pro
NM_001033054.3:c.940T>C NP_001028226.1:p.Ser314Pro
NM_001033055.3:c.949T>C NP_001028227.1:p.Ser317Pro
NM_001285399.3:c.1093T>C NP_001272328.1:p.Ser365Pro
NM_001285400.3:c.1063T>C NP_001272329.1:p.Ser355Pro
NM_001285401.3:c.1057T>C NP_001272330.1:p.Ser353Pro
NM_001285402.2:c.1012T>C NP_001272331.1:p.Ser338Pro
NM_001285403.3:c.*1100T>C NP_001272332.1:p.=
NM_014336.5:c.1129T>C MANE Select NP_055151.3:p.Ser377Pro
NM_001285403.4:c.*1100T>C NP_001272332.1:p.=