Canonical Allele Identifier: CA397394830

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425781C>G , CM000679.2:g.6425781C>G	GRCh38
NC_000017.10:g.6329101C>G , CM000679.1:g.6329101C>G	GRCh37
NC_000017.9:g.6269825C>G	NCBI36
NG_008474.1:g.14419G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.834G>C MANE Select	NP_055151.3:p.Trp278Cys
ENST00000381129.8:c.834G>C MANE Select	ENSP00000370521.3:p.Trp278Cys
NM_001033054.2:c.645G>C	NP_001028226.1:p.Trp215Cys
NM_001033054.3:c.645G>C	NP_001028226.1:p.Trp215Cys
NM_001033055.2:c.654G>C	NP_001028227.1:p.Trp218Cys
NM_001033055.3:c.654G>C	NP_001028227.1:p.Trp218Cys
NM_001285399.2:c.798G>C	NP_001272328.1:p.Trp266Cys
NM_001285399.3:c.798G>C	NP_001272328.1:p.Trp266Cys
NM_001285400.2:c.768G>C	NP_001272329.1:p.Trp256Cys
NM_001285400.3:c.768G>C	NP_001272329.1:p.Trp256Cys
NM_001285401.2:c.762G>C	NP_001272330.1:p.Trp254Cys
NM_001285401.3:c.762G>C	NP_001272330.1:p.Trp254Cys
NM_001285402.1:c.717G>C	NP_001272331.1:p.Trp239Cys
NM_001285402.2:c.717G>C	NP_001272331.1:p.Trp239Cys
NM_001285403.3:c.*805G>C	NP_001272332.1:n.*805G>C
NM_001285403.4:c.*805G>C	NP_001272332.1:n.*805G>C
NM_014336.4:c.834G>C	NP_055151.3:p.Trp278Cys
ENST00000250087.9:c.645G>C	ENSP00000250087.5:p.Trp215Cys
ENST00000381128.2:c.*706G>C	ENSP00000370520.2:n.*706G>C
ENST00000381129.7:c.834G>C	ENSP00000370521.3:p.Trp278Cys
ENST00000570466.5:c.768G>C	ENSP00000461287.1:p.Trp256Cys
ENST00000570584.5:c.251+8138G>C
ENST00000574506.5:c.798G>C	ENSP00000458456.1:p.Trp266Cys
ENST00000575265.5:c.*805G>C	ENSP00000459673.1:n.*805G>C
ENST00000576307.5:c.654G>C	ENSP00000459522.1:p.Trp218Cys
ENST00000576776.5:c.762G>C	ENSP00000460827.1:p.Trp254Cys
ENST00000621374.4:c.834G>C	ENSP00000481337.1:p.Trp278Cys