Canonical Allele Identifier: CA3151332482

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501892T= , CM000669.2:g.92501892T=	GRCh38
NC_000007.13:g.92131206T= , CM000669.1:g.92131206T=	GRCh37
NC_000007.12:g.91969142T=	NCBI36
NG_008341.1:g.31640A=
NG_008341.2:g.31640A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2414A= MANE Select	NP_000457.1:p.Glu805=
ENST00000248633.9:c.2414A= MANE Select	ENSP00000248633.4:p.Glu805=
NM_000466.2:c.2414A=	NP_000457.1:p.Glu805=
NM_001282677.1:c.2243A=	NP_001269606.1:p.Glu748=
NM_001282677.2:c.2243A=	NP_001269606.1:p.Glu748=
NM_001282678.1:c.1790A=	NP_001269607.1:p.Glu597=
NM_001282678.2:c.1790A=	NP_001269607.1:p.Glu597=
ENST00000248633.8:c.2414A=	ENSP00000248633.4:p.Glu805=
ENST00000428214.5:c.2243A=	ENSP00000394413.1:p.Glu748=
ENST00000438045.5:c.1448A=	ENSP00000410438.1:p.Glu483=
ENST00000484913.5:n.2453A=
ENST00000496092.1:n.212A=
ENST00000496420.5:n.2090A=
XM_005250433.3:c.665A=	XP_005250490.1:p.Glu222=
XM_017012319.2:c.665A=	XP_016867808.1:p.Glu222=
XR_001744808.2:n.1441A=
XR_242246.3:n.2510A=
XR_242246.5:n.2461A=