Canonical Allele Identifier: CA1725936149

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502059C= , CM000669.2:g.92502059C=	GRCh38
NC_000007.13:g.92131373C= , CM000669.1:g.92131373C=	GRCh37
NC_000007.12:g.91969309C=	NCBI36
NG_008341.1:g.31473G=
NG_008341.2:g.31473G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2247G= MANE Select	ENSP00000248633.4:p.Leu749=
ENST00000248633.8:c.2247G=	ENSP00000248633.4:p.Leu749=
ENST00000428214.5:c.2076G=	ENSP00000394413.1:p.Leu692=
ENST00000438045.5:c.1281G=	ENSP00000410438.1:p.Leu427=
ENST00000484913.5:n.2286G=
ENST00000496092.1:n.45G=
ENST00000496420.5:n.1923G=
NM_000466.2:c.2247G=	NP_000457.1:p.Leu749=
NM_001282677.1:c.2076G=	NP_001269606.1:p.Leu692=
NM_001282678.1:c.1623G=	NP_001269607.1:p.Leu541=
XM_005250433.3:c.498G=	XP_005250490.1:p.Leu166=
XR_242246.3:n.2343G=
XM_017012319.2:c.498G=	XP_016867808.1:p.Leu166=
XR_001744808.2:n.1274G=
XR_242246.5:n.2294G=
NM_000466.3:c.2247G= MANE Select	NP_000457.1:p.Leu749=
NM_001282677.2:c.2076G=	NP_001269606.1:p.Leu692=
NM_001282678.2:c.1623G=	NP_001269607.1:p.Leu541=