Canonical Allele Identifier: CA1725936093

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501937C= , CM000669.2:g.92501937C=	GRCh38
NC_000007.13:g.92131251C= , CM000669.1:g.92131251C=	GRCh37
NC_000007.12:g.91969187C=	NCBI36
NG_008341.1:g.31595G=
NG_008341.2:g.31595G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2369G= MANE Select	ENSP00000248633.4:p.Arg790=
ENST00000248633.8:c.2369G=	ENSP00000248633.4:p.Arg790=
ENST00000428214.5:c.2198G=	ENSP00000394413.1:p.Arg733=
ENST00000438045.5:c.1403G=	ENSP00000410438.1:p.Arg468=
ENST00000484913.5:n.2408G=
ENST00000496092.1:n.167G=
ENST00000496420.5:n.2045G=
NM_000466.2:c.2369G=	NP_000457.1:p.Arg790=
NM_001282677.1:c.2198G=	NP_001269606.1:p.Arg733=
NM_001282678.1:c.1745G=	NP_001269607.1:p.Arg582=
XM_005250433.3:c.620G=	XP_005250490.1:p.Arg207=
XR_242246.3:n.2465G=
XM_017012319.2:c.620G=	XP_016867808.1:p.Arg207=
XR_001744808.2:n.1396G=
XR_242246.5:n.2416G=
NM_000466.3:c.2369G= MANE Select	NP_000457.1:p.Arg790=
NM_001282677.2:c.2198G=	NP_001269606.1:p.Arg733=
NM_001282678.2:c.1745G=	NP_001269607.1:p.Arg582=