Canonical Allele Identifier: CA497687262
Gene: AIPL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6328789C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425469C>A , CM000679.2:g.6425469C>A GRCh38
NC_000017.10:g.6328789C>A , CM000679.1:g.6328789C>A GRCh37
NC_000017.9:g.6269513C>A NCBI36
NG_008474.1:g.14731G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1146G>T MANE Select ENSP00000370521.3:p.Leu382=
ENST00000250087.9:c.957G>T ENSP00000250087.5:p.Leu319=
ENST00000381128.2:c.*1018G>T ENSP00000370520.2:p.=
ENST00000381129.7:c.1146G>T ENSP00000370521.3:p.Leu382=
ENST00000570466.5:c.1080G>T ENSP00000461287.1:p.Leu360=
ENST00000570584.5:n.251+8450G>T
ENST00000574506.5:c.1110G>T ENSP00000458456.1:p.Leu370=
ENST00000575265.5:c.*1117G>T ENSP00000459673.1:p.=
ENST00000576307.5:c.966G>T ENSP00000459522.1:p.Leu322=
ENST00000576776.5:c.1074G>T ENSP00000460827.1:p.Leu358=
ENST00000621374.4:c.*164G>T ENSP00000481337.1:p.=
NM_001033054.2:c.957G>T NP_001028226.1:p.Leu319=
NM_001033055.2:c.966G>T NP_001028227.1:p.Leu322=
NM_001285399.2:c.1110G>T NP_001272328.1:p.Leu370=
NM_001285400.2:c.1080G>T NP_001272329.1:p.Leu360=
NM_001285401.2:c.1074G>T NP_001272330.1:p.Leu358=
NM_001285402.1:c.1029G>T NP_001272331.1:p.Leu343=
NM_014336.4:c.1146G>T NP_055151.3:p.Leu382=
NM_001033054.3:c.957G>T NP_001028226.1:p.Leu319=
NM_001033055.3:c.966G>T NP_001028227.1:p.Leu322=
NM_001285399.3:c.1110G>T NP_001272328.1:p.Leu370=
NM_001285400.3:c.1080G>T NP_001272329.1:p.Leu360=
NM_001285401.3:c.1074G>T NP_001272330.1:p.Leu358=
NM_001285402.2:c.1029G>T NP_001272331.1:p.Leu343=
NM_001285403.3:c.*1117G>T NP_001272332.1:p.=
NM_014336.5:c.1146G>T MANE Select NP_055151.3:p.Leu382=
NM_001285403.4:c.*1117G>T NP_001272332.1:p.=