Canonical Allele Identifier: CA1725947171

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517340T= , CM000669.2:g.92517340T=	GRCh38
NC_000007.13:g.92146654T= , CM000669.1:g.92146654T=	GRCh37
NC_000007.12:g.91984590T=	NCBI36
NG_008341.1:g.16192A=
NG_008341.2:g.16192A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1175A= MANE Select	ENSP00000248633.4:p.Glu392=
ENST00000248633.8:c.1175A=	ENSP00000248633.4:p.Glu392=
ENST00000422866.1:c.76A=
ENST00000428214.5:c.1175A=	ENSP00000394413.1:p.Glu392=
ENST00000438045.5:c.274-3373A=	ENSP00000410438.1:n.274-3373A=
ENST00000484913.5:n.1214A=
NM_000466.2:c.1175A=	NP_000457.1:p.Glu392=
NM_001282677.1:c.1175A=	NP_001269606.1:p.Glu392=
NM_001282678.1:c.551A=	NP_001269607.1:p.Glu184=
XR_242246.3:n.1271A=
XM_017012319.2:c.-492A=	XP_016867808.1:n.-492A=
XR_001744808.2:n.285A=
XR_242246.5:n.1222A=
NM_000466.3:c.1175A= MANE Select	NP_000457.1:p.Glu392=
NM_001282677.2:c.1175A=	NP_001269606.1:p.Glu392=
NM_001282678.2:c.551A=	NP_001269607.1:p.Glu184=