Canonical Allele Identifier: CA1725936085

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501916G= , CM000669.2:g.92501916G=	GRCh38
NC_000007.13:g.92131230G= , CM000669.1:g.92131230G=	GRCh37
NC_000007.12:g.91969166G=	NCBI36
NG_008341.1:g.31616C=
NG_008341.2:g.31616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2390C= MANE Select	ENSP00000248633.4:p.Ser797=
ENST00000248633.8:c.2390C=	ENSP00000248633.4:p.Ser797=
ENST00000428214.5:c.2219C=	ENSP00000394413.1:p.Ser740=
ENST00000438045.5:c.1424C=	ENSP00000410438.1:p.Ser475=
ENST00000484913.5:n.2429C=
ENST00000496092.1:n.188C=
ENST00000496420.5:n.2066C=
NM_000466.2:c.2390C=	NP_000457.1:p.Ser797=
NM_001282677.1:c.2219C=	NP_001269606.1:p.Ser740=
NM_001282678.1:c.1766C=	NP_001269607.1:p.Ser589=
XM_005250433.3:c.641C=	XP_005250490.1:p.Ser214=
XR_242246.3:n.2486C=
XM_017012319.2:c.641C=	XP_016867808.1:p.Ser214=
XR_001744808.2:n.1417C=
XR_242246.5:n.2437C=
NM_000466.3:c.2390C= MANE Select	NP_000457.1:p.Ser797=
NM_001282677.2:c.2219C=	NP_001269606.1:p.Ser740=
NM_001282678.2:c.1766C=	NP_001269607.1:p.Ser589=