Canonical Allele Identifier: CA1725935168

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499748C= , CM000669.2:g.92499748C=	GRCh38
NC_000007.13:g.92129062C= , CM000669.1:g.92129062C=	GRCh37
NC_000007.12:g.91966998C=	NCBI36
NG_008341.1:g.33784G=
NG_008341.2:g.33784G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2674G= MANE Select	ENSP00000248633.4:p.Gly892=
ENST00000248633.8:c.2674G=	ENSP00000248633.4:p.Gly892=
ENST00000428214.5:c.2503G=	ENSP00000394413.1:p.Gly835=
ENST00000438045.5:c.1708G=	ENSP00000410438.1:p.Gly570=
ENST00000484913.5:n.2713G=
ENST00000496420.5:n.2566G=
NM_000466.2:c.2674G=	NP_000457.1:p.Gly892=
NM_001282677.1:c.2503G=	NP_001269606.1:p.Gly835=
NM_001282678.1:c.2050G=	NP_001269607.1:p.Gly684=
XM_005250433.3:c.925G=	XP_005250490.1:p.Gly309=
XR_242246.3:n.2770G=
XM_017012319.2:c.925G=	XP_016867808.1:p.Gly309=
XR_001744808.2:n.1701G=
XR_242246.5:n.2721G=
NM_000466.3:c.2674G= MANE Select	NP_000457.1:p.Gly892=
NM_001282677.2:c.2503G=	NP_001269606.1:p.Gly835=
NM_001282678.2:c.2050G=	NP_001269607.1:p.Gly684=