Canonical Allele Identifier: CA1725936081

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501911G= , CM000669.2:g.92501911G=	GRCh38
NC_000007.13:g.92131225G= , CM000669.1:g.92131225G=	GRCh37
NC_000007.12:g.91969161G=	NCBI36
NG_008341.1:g.31621C=
NG_008341.2:g.31621C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2395C= MANE Select	ENSP00000248633.4:p.Gln799=
ENST00000248633.8:c.2395C=	ENSP00000248633.4:p.Gln799=
ENST00000428214.5:c.2224C=	ENSP00000394413.1:p.Gln742=
ENST00000438045.5:c.1429C=	ENSP00000410438.1:p.Gln477=
ENST00000484913.5:n.2434C=
ENST00000496092.1:n.193C=
ENST00000496420.5:n.2071C=
NM_000466.2:c.2395C=	NP_000457.1:p.Gln799=
NM_001282677.1:c.2224C=	NP_001269606.1:p.Gln742=
NM_001282678.1:c.1771C=	NP_001269607.1:p.Gln591=
XM_005250433.3:c.646C=	XP_005250490.1:p.Gln216=
XR_242246.3:n.2491C=
XM_017012319.2:c.646C=	XP_016867808.1:p.Gln216=
XR_001744808.2:n.1422C=
XR_242246.5:n.2442C=
NM_000466.3:c.2395C= MANE Select	NP_000457.1:p.Gln799=
NM_001282677.2:c.2224C=	NP_001269606.1:p.Gln742=
NM_001282678.2:c.1771C=	NP_001269607.1:p.Gln591=