Canonical Allele Identifier: CA397395382

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426906A>G , CM000679.2:g.6426906A>G	GRCh38
NC_000017.10:g.6330226A>G , CM000679.1:g.6330226A>G	GRCh37
NC_000017.9:g.6270950A>G	NCBI36
NG_008474.1:g.13294T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.617T>C MANE Select	NP_055151.3:p.Ile206Thr
ENST00000381129.8:c.617T>C MANE Select	ENSP00000370521.3:p.Ile206Thr
NM_001033054.2:c.428T>C	NP_001028226.1:p.Ile143Thr
NM_001033054.3:c.428T>C	NP_001028226.1:p.Ile143Thr
NM_001033055.2:c.437T>C	NP_001028227.1:p.Ile146Thr
NM_001033055.3:c.437T>C	NP_001028227.1:p.Ile146Thr
NM_001285399.2:c.581T>C	NP_001272328.1:p.Ile194Thr
NM_001285399.3:c.581T>C	NP_001272328.1:p.Ile194Thr
NM_001285400.2:c.551T>C	NP_001272329.1:p.Ile184Thr
NM_001285400.3:c.551T>C	NP_001272329.1:p.Ile184Thr
NM_001285401.2:c.617T>C	NP_001272330.1:p.Ile206Thr
NM_001285401.3:c.617T>C	NP_001272330.1:p.Ile206Thr
NM_001285402.1:c.500T>C	NP_001272331.1:p.Ile167Thr
NM_001285402.2:c.500T>C	NP_001272331.1:p.Ile167Thr
NM_001285403.2:c.593T>C	NP_001272332.1:p.Ile198Thr
NM_001285403.3:c.593T>C	NP_001272332.1:p.Ile198Thr
NM_001285403.4:c.593T>C	NP_001272332.1:p.Ile198Thr
NM_014336.4:c.617T>C	NP_055151.3:p.Ile206Thr
ENST00000250087.9:c.428T>C	ENSP00000250087.5:p.Ile143Thr
ENST00000381128.2:c.*489T>C	ENSP00000370520.2:n.*489T>C
ENST00000381129.7:c.617T>C	ENSP00000370521.3:p.Ile206Thr
ENST00000570466.5:c.551T>C	ENSP00000461287.1:p.Ile184Thr
ENST00000570584.5:c.251+7013T>C
ENST00000571740.5:c.593T>C	ENSP00000460134.1:p.Ile198Thr
ENST00000574506.5:c.581T>C	ENSP00000458456.1:p.Ile194Thr
ENST00000574913.1:c.629T>C	ENSP00000460672.1:p.Ile210Thr
ENST00000575265.5:c.617T>C	ENSP00000459673.1:p.Ile206Thr
ENST00000576307.5:c.437T>C	ENSP00000459522.1:p.Ile146Thr
ENST00000576776.5:c.617T>C	ENSP00000460827.1:p.Ile206Thr
ENST00000621374.4:c.617T>C	ENSP00000481337.1:p.Ile206Thr