Canonical Allele Identifier: CA397394190
Gene: AIPL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6328796T>G (hg19) chr17:g.6425476T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425476T>G , CM000679.2:g.6425476T>G GRCh38
NC_000017.10:g.6328796T>G , CM000679.1:g.6328796T>G GRCh37
NC_000017.9:g.6269520T>G NCBI36
NG_008474.1:g.14724A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1139A>C MANE Select ENSP00000370521.3:p.His380Pro
ENST00000250087.9:c.950A>C ENSP00000250087.5:p.His317Pro
ENST00000381128.2:c.*1011A>C ENSP00000370520.2:n.*1011A>C
ENST00000381129.7:c.1139A>C ENSP00000370521.3:p.His380Pro
ENST00000570466.5:c.1073A>C ENSP00000461287.1:p.His358Pro
ENST00000570584.5:c.251+8443A>C
ENST00000574506.5:c.1103A>C ENSP00000458456.1:p.His368Pro
ENST00000575265.5:c.*1110A>C ENSP00000459673.1:n.*1110A>C
ENST00000576307.5:c.959A>C ENSP00000459522.1:p.His320Pro
ENST00000576776.5:c.1067A>C ENSP00000460827.1:p.His356Pro
ENST00000621374.4:c.*157A>C ENSP00000481337.1:n.*157A>C
NM_001033054.2:c.950A>C NP_001028226.1:p.His317Pro
NM_001033055.2:c.959A>C NP_001028227.1:p.His320Pro
NM_001285399.2:c.1103A>C NP_001272328.1:p.His368Pro
NM_001285400.2:c.1073A>C NP_001272329.1:p.His358Pro
NM_001285401.2:c.1067A>C NP_001272330.1:p.His356Pro
NM_001285402.1:c.1022A>C NP_001272331.1:p.His341Pro
NM_014336.4:c.1139A>C NP_055151.3:p.His380Pro
NM_001033054.3:c.950A>C NP_001028226.1:p.His317Pro
NM_001033055.3:c.959A>C NP_001028227.1:p.His320Pro
NM_001285399.3:c.1103A>C NP_001272328.1:p.His368Pro
NM_001285400.3:c.1073A>C NP_001272329.1:p.His358Pro
NM_001285401.3:c.1067A>C NP_001272330.1:p.His356Pro
NM_001285402.2:c.1022A>C NP_001272331.1:p.His341Pro
NM_001285403.3:c.*1110A>C NP_001272332.1:n.*1110A>C
NM_014336.5:c.1139A>C MANE Select NP_055151.3:p.His380Pro
NM_001285403.4:c.*1110A>C NP_001272332.1:n.*1110A>C
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