Canonical Allele Identifier: CA2245353372
Community Standard Title: NM_014336.5(AIPL1):c.268G= (p.Asp90=)
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6433927C= , CM000679.2:g.6433927C= GRCh38
NC_000017.10:g.6337247C= , CM000679.1:g.6337247C= GRCh37
NC_000017.9:g.6277971C= NCBI36
NG_008474.1:g.6273G=

Transcript Alleles

HGVS Amino-acid Change
NM_014336.5:c.268G= MANE Select NP_055151.3:p.Asp90=
ENST00000381129.8:c.268G= MANE Select ENSP00000370521.3:p.Asp90=
NM_001033054.2:c.268G= NP_001028226.1:p.Asp90=
NM_001033054.3:c.268G= NP_001028226.1:p.Asp90=
NM_001033055.2:c.96+1082G= NP_001028227.1:n.96+1082G=
NM_001033055.3:c.96+1082G= NP_001028227.1:n.96+1082G=
NM_001285399.2:c.232G= NP_001272328.1:p.Asp78=
NM_001285399.3:c.232G= NP_001272328.1:p.Asp78=
NM_001285400.2:c.202G= NP_001272329.1:p.Asp68=
NM_001285400.3:c.202G= NP_001272329.1:p.Asp68=
NM_001285401.2:c.268G= NP_001272330.1:p.Asp90=
NM_001285401.3:c.268G= NP_001272330.1:p.Asp90=
NM_001285402.1:c.151G= NP_001272331.1:p.Asp51=
NM_001285402.2:c.151G= NP_001272331.1:p.Asp51=
NM_001285403.2:c.268G= NP_001272332.1:p.Asp90=
NM_001285403.3:c.268G= NP_001272332.1:p.Asp90=
NM_001285403.4:c.268G= NP_001272332.1:p.Asp90=
NM_014336.4:c.268G= NP_055151.3:p.Asp90=
ENST00000250087.9:c.268G= ENSP00000250087.5:p.Asp90=
ENST00000381128.2:c.*140G= ENSP00000370520.2:n.*140G=
ENST00000381129.7:c.268G= ENSP00000370521.3:p.Asp90=
ENST00000570466.5:c.202G= ENSP00000461287.1:p.Asp68=
ENST00000570584.5:c.243G=
ENST00000571740.5:c.268G= ENSP00000460134.1:p.Asp90=
ENST00000574506.5:c.232G= ENSP00000458456.1:p.Asp78=
ENST00000574913.1:c.268G= ENSP00000460672.1:p.Asp90=
ENST00000575265.5:c.268G= ENSP00000459673.1:p.Asp90=
ENST00000576307.5:c.96+1082G= ENSP00000459522.1:n.96+1082G=
ENST00000576776.5:c.268G= ENSP00000460827.1:p.Asp90=
ENST00000621374.4:c.268G= ENSP00000481337.1:p.Asp90=