Canonical Allele Identifier: CA397394469
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425621T>G , CM000679.2:g.6425621T>G GRCh38
NC_000017.10:g.6328941T>G , CM000679.1:g.6328941T>G GRCh37
NC_000017.9:g.6269665T>G NCBI36
NG_008474.1:g.14579A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.994A>C MANE Select ENSP00000370521.3:p.Thr332Pro
ENST00000250087.9:c.805A>C ENSP00000250087.5:p.Thr269Pro
ENST00000381128.2:c.*866A>C ENSP00000370520.2:n.*866A>C
ENST00000381129.7:c.994A>C ENSP00000370521.3:p.Thr332Pro
ENST00000570466.5:c.928A>C ENSP00000461287.1:p.Thr310Pro
ENST00000570584.5:c.251+8298A>C
ENST00000574506.5:c.958A>C ENSP00000458456.1:p.Thr320Pro
ENST00000575265.5:c.*965A>C ENSP00000459673.1:n.*965A>C
ENST00000576307.5:c.814A>C ENSP00000459522.1:p.Thr272Pro
ENST00000576776.5:c.922A>C ENSP00000460827.1:p.Thr308Pro
ENST00000621374.4:c.*12A>C ENSP00000481337.1:n.*12A>C
NM_001033054.2:c.805A>C NP_001028226.1:p.Thr269Pro
NM_001033055.2:c.814A>C NP_001028227.1:p.Thr272Pro
NM_001285399.2:c.958A>C NP_001272328.1:p.Thr320Pro
NM_001285400.2:c.928A>C NP_001272329.1:p.Thr310Pro
NM_001285401.2:c.922A>C NP_001272330.1:p.Thr308Pro
NM_001285402.1:c.877A>C NP_001272331.1:p.Thr293Pro
NM_014336.4:c.994A>C NP_055151.3:p.Thr332Pro
NM_001033054.3:c.805A>C NP_001028226.1:p.Thr269Pro
NM_001033055.3:c.814A>C NP_001028227.1:p.Thr272Pro
NM_001285399.3:c.958A>C NP_001272328.1:p.Thr320Pro
NM_001285400.3:c.928A>C NP_001272329.1:p.Thr310Pro
NM_001285401.3:c.922A>C NP_001272330.1:p.Thr308Pro
NM_001285402.2:c.877A>C NP_001272331.1:p.Thr293Pro
NM_001285403.3:c.*965A>C NP_001272332.1:n.*965A>C
NM_014336.5:c.994A>C MANE Select NP_055151.3:p.Thr332Pro
NM_001285403.4:c.*965A>C NP_001272332.1:n.*965A>C