Canonical Allele Identifier: CA497687268
Gene: AIPL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.6328795G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425475G>A , CM000679.2:g.6425475G>A GRCh38
NC_000017.10:g.6328795G>A , CM000679.1:g.6328795G>A GRCh37
NC_000017.9:g.6269519G>A NCBI36
NG_008474.1:g.14725C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1140C>T MANE Select ENSP00000370521.3:p.His380=
ENST00000250087.9:c.951C>T ENSP00000250087.5:p.His317=
ENST00000381128.2:c.*1012C>T ENSP00000370520.2:p.=
ENST00000381129.7:c.1140C>T ENSP00000370521.3:p.His380=
ENST00000570466.5:c.1074C>T ENSP00000461287.1:p.His358=
ENST00000570584.5:n.251+8444C>T
ENST00000574506.5:c.1104C>T ENSP00000458456.1:p.His368=
ENST00000575265.5:c.*1111C>T ENSP00000459673.1:p.=
ENST00000576307.5:c.960C>T ENSP00000459522.1:p.His320=
ENST00000576776.5:c.1068C>T ENSP00000460827.1:p.His356=
ENST00000621374.4:c.*158C>T ENSP00000481337.1:p.=
NM_001033054.2:c.951C>T NP_001028226.1:p.His317=
NM_001033055.2:c.960C>T NP_001028227.1:p.His320=
NM_001285399.2:c.1104C>T NP_001272328.1:p.His368=
NM_001285400.2:c.1074C>T NP_001272329.1:p.His358=
NM_001285401.2:c.1068C>T NP_001272330.1:p.His356=
NM_001285402.1:c.1023C>T NP_001272331.1:p.His341=
NM_014336.4:c.1140C>T NP_055151.3:p.His380=
NM_001033054.3:c.951C>T NP_001028226.1:p.His317=
NM_001033055.3:c.960C>T NP_001028227.1:p.His320=
NM_001285399.3:c.1104C>T NP_001272328.1:p.His368=
NM_001285400.3:c.1074C>T NP_001272329.1:p.His358=
NM_001285401.3:c.1068C>T NP_001272330.1:p.His356=
NM_001285402.2:c.1023C>T NP_001272331.1:p.His341=
NM_001285403.3:c.*1111C>T NP_001272332.1:p.=
NM_014336.5:c.1140C>T MANE Select NP_055151.3:p.His380=
NM_001285403.4:c.*1111C>T NP_001272332.1:p.=