Canonical Allele Identifier: CA397394675

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425710C>G , CM000679.2:g.6425710C>G	GRCh38
NC_000017.10:g.6329030C>G , CM000679.1:g.6329030C>G	GRCh37
NC_000017.9:g.6269754C>G	NCBI36
NG_008474.1:g.14490G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.905G>C MANE Select	NP_055151.3:p.Arg302Pro
ENST00000381129.8:c.905G>C MANE Select	ENSP00000370521.3:p.Arg302Pro
NM_001033054.2:c.716G>C	NP_001028226.1:p.Arg239Pro
NM_001033054.3:c.716G>C	NP_001028226.1:p.Arg239Pro
NM_001033055.2:c.725G>C	NP_001028227.1:p.Arg242Pro
NM_001033055.3:c.725G>C	NP_001028227.1:p.Arg242Pro
NM_001285399.2:c.869G>C	NP_001272328.1:p.Arg290Pro
NM_001285399.3:c.869G>C	NP_001272328.1:p.Arg290Pro
NM_001285400.2:c.839G>C	NP_001272329.1:p.Arg280Pro
NM_001285400.3:c.839G>C	NP_001272329.1:p.Arg280Pro
NM_001285401.2:c.833G>C	NP_001272330.1:p.Arg278Pro
NM_001285401.3:c.833G>C	NP_001272330.1:p.Arg278Pro
NM_001285402.1:c.788G>C	NP_001272331.1:p.Arg263Pro
NM_001285402.2:c.788G>C	NP_001272331.1:p.Arg263Pro
NM_001285403.3:c.*876G>C	NP_001272332.1:n.*876G>C
NM_001285403.4:c.*876G>C	NP_001272332.1:n.*876G>C
NM_014336.4:c.905G>C	NP_055151.3:p.Arg302Pro
ENST00000250087.9:c.716G>C	ENSP00000250087.5:p.Arg239Pro
ENST00000381128.2:c.*777G>C	ENSP00000370520.2:n.*777G>C
ENST00000381129.7:c.905G>C	ENSP00000370521.3:p.Arg302Pro
ENST00000570466.5:c.839G>C	ENSP00000461287.1:p.Arg280Pro
ENST00000570584.5:c.251+8209G>C
ENST00000574506.5:c.869G>C	ENSP00000458456.1:p.Arg290Pro
ENST00000575265.5:c.*876G>C	ENSP00000459673.1:n.*876G>C
ENST00000576307.5:c.725G>C	ENSP00000459522.1:p.Arg242Pro
ENST00000576776.5:c.833G>C	ENSP00000460827.1:p.Arg278Pro
ENST00000621374.4:c.905G>C	ENSP00000481337.1:p.Arg302Pro