Canonical Allele Identifier: CA1725947577

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517613G= , CM000669.2:g.92517613G=	GRCh38
NC_000007.13:g.92146927G= , CM000669.1:g.92146927G=	GRCh37
NC_000007.12:g.91984863G=	NCBI36
NG_008341.1:g.15919C=
NG_008341.2:g.15919C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.902C= MANE Select	ENSP00000248633.4:p.Ser301=
ENST00000248633.8:c.902C=	ENSP00000248633.4:p.Ser301=
ENST00000428214.5:c.902C=	ENSP00000394413.1:p.Ser301=
ENST00000438045.5:c.274-3646C=	ENSP00000410438.1:n.274-3646C=
ENST00000484913.5:n.941C=
NM_000466.2:c.902C=	NP_000457.1:p.Ser301=
NM_001282677.1:c.902C=	NP_001269606.1:p.Ser301=
NM_001282678.1:c.278C=	NP_001269607.1:p.Ser93=
XR_242246.3:n.998C=
XM_017012319.2:c.-765C=	XP_016867808.1:n.-765C=
XR_001744808.2:n.12C=
XR_242246.5:n.949C=
NM_000466.3:c.902C= MANE Select	NP_000457.1:p.Ser301=
NM_001282677.2:c.902C=	NP_001269606.1:p.Ser301=
NM_001282678.2:c.278C=	NP_001269607.1:p.Ser93=