Canonical Allele Identifier: CA1725936945

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503059G= , CM000669.2:g.92503059G=	GRCh38
NC_000007.13:g.92132373G= , CM000669.1:g.92132373G=	GRCh37
NC_000007.12:g.91970309G=	NCBI36
NG_008341.1:g.30473C=
NG_008341.2:g.30473C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2208C= MANE Select	ENSP00000248633.4:p.His736=
ENST00000248633.8:c.2208C=	ENSP00000248633.4:p.His736=
ENST00000428214.5:c.2037C=	ENSP00000394413.1:p.His679=
ENST00000438045.5:c.1242C=	ENSP00000410438.1:p.His414=
ENST00000484913.5:n.2247C=
ENST00000496092.1:n.6C=
ENST00000496420.5:n.1884C=
NM_000466.2:c.2208C=	NP_000457.1:p.His736=
NM_001282677.1:c.2037C=	NP_001269606.1:p.His679=
NM_001282678.1:c.1584C=	NP_001269607.1:p.His528=
XM_005250433.3:c.459C=	XP_005250490.1:p.His153=
XR_242246.3:n.2304C=
XM_017012319.2:c.459C=	XP_016867808.1:p.His153=
XR_001744808.2:n.1235C=
XR_242246.5:n.2255C=
NM_000466.3:c.2208C= MANE Select	NP_000457.1:p.His736=
NM_001282677.2:c.2037C=	NP_001269606.1:p.His679=
NM_001282678.2:c.1584C=	NP_001269607.1:p.His528=