Canonical Allele Identifier: CA1725941042

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506250C= , CM000669.2:g.92506250C=	GRCh38
NC_000007.13:g.92135564C= , CM000669.1:g.92135564C=	GRCh37
NC_000007.12:g.91973500C=	NCBI36
NG_008341.1:g.27282G=
NG_008341.2:g.27282G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1898G= MANE Select	ENSP00000248633.4:p.Arg633=
ENST00000248633.8:c.1898G=	ENSP00000248633.4:p.Arg633=
ENST00000422866.1:c.716G=
ENST00000428214.5:c.1898G=	ENSP00000394413.1:p.Arg633=
ENST00000438045.5:c.932G=	ENSP00000410438.1:p.Arg311=
ENST00000484913.5:n.1937G=
ENST00000496420.5:n.1574G=
NM_000466.2:c.1898G=	NP_000457.1:p.Arg633=
NM_001282677.1:c.1898G=	NP_001269606.1:p.Arg633=
NM_001282678.1:c.1274G=	NP_001269607.1:p.Arg425=
XM_005250433.3:c.149G=	XP_005250490.1:p.Arg50=
XR_242246.3:n.1994G=
XM_017012319.2:c.149G=	XP_016867808.1:p.Arg50=
XR_001744808.2:n.925G=
XR_242246.5:n.1945G=
NM_000466.3:c.1898G= MANE Select	NP_000457.1:p.Arg633=
NM_001282677.2:c.1898G=	NP_001269606.1:p.Arg633=
NM_001282678.2:c.1274G=	NP_001269607.1:p.Arg425=