Canonical Allele Identifier: CA1725936108

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501970A= , CM000669.2:g.92501970A=	GRCh38
NC_000007.13:g.92131284A= , CM000669.1:g.92131284A=	GRCh37
NC_000007.12:g.91969220A=	NCBI36
NG_008341.1:g.31562T=
NG_008341.2:g.31562T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2336T= MANE Select	ENSP00000248633.4:p.Phe779=
ENST00000248633.8:c.2336T=	ENSP00000248633.4:p.Phe779=
ENST00000428214.5:c.2165T=	ENSP00000394413.1:p.Phe722=
ENST00000438045.5:c.1370T=	ENSP00000410438.1:p.Phe457=
ENST00000484913.5:n.2375T=
ENST00000496092.1:n.134T=
ENST00000496420.5:n.2012T=
NM_000466.2:c.2336T=	NP_000457.1:p.Phe779=
NM_001282677.1:c.2165T=	NP_001269606.1:p.Phe722=
NM_001282678.1:c.1712T=	NP_001269607.1:p.Phe571=
XM_005250433.3:c.587T=	XP_005250490.1:p.Phe196=
XR_242246.3:n.2432T=
XM_017012319.2:c.587T=	XP_016867808.1:p.Phe196=
XR_001744808.2:n.1363T=
XR_242246.5:n.2383T=
NM_000466.3:c.2336T= MANE Select	NP_000457.1:p.Phe779=
NM_001282677.2:c.2165T=	NP_001269606.1:p.Phe722=
NM_001282678.2:c.1712T=	NP_001269607.1:p.Phe571=