Canonical Allele Identifier: CA1725935923

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501562C= , CM000669.2:g.92501562C=	GRCh38
NC_000007.13:g.92130876C= , CM000669.1:g.92130876C=	GRCh37
NC_000007.12:g.91968812C=	NCBI36
NG_008341.1:g.31970G=
NG_008341.2:g.31970G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2528G= MANE Select	NP_000457.1:p.Gly843=
ENST00000248633.9:c.2528G= MANE Select	ENSP00000248633.4:p.Gly843=
NM_000466.2:c.2528G=	NP_000457.1:p.Gly843=
NM_001282677.1:c.2357G=	NP_001269606.1:p.Gly786=
NM_001282677.2:c.2357G=	NP_001269606.1:p.Gly786=
NM_001282678.1:c.1904G=	NP_001269607.1:p.Gly635=
NM_001282678.2:c.1904G=	NP_001269607.1:p.Gly635=
ENST00000248633.8:c.2528G=	ENSP00000248633.4:p.Gly843=
ENST00000428214.5:c.2357G=	ENSP00000394413.1:p.Gly786=
ENST00000438045.5:c.1562G=	ENSP00000410438.1:p.Gly521=
ENST00000484913.5:n.2567G=
ENST00000496420.5:n.2420G=
XM_005250433.3:c.779G=	XP_005250490.1:p.Gly260=
XM_017012319.2:c.779G=	XP_016867808.1:p.Gly260=
XR_001744808.2:n.1555G=
XR_242246.3:n.2624G=
XR_242246.5:n.2575G=