Canonical Allele Identifier: CA1725937085

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503130G= , CM000669.2:g.92503130G=	GRCh38
NC_000007.13:g.92132444G= , CM000669.1:g.92132444G=	GRCh37
NC_000007.12:g.91970380G=	NCBI36
NG_008341.1:g.30402C=
NG_008341.2:g.30402C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2137C= MANE Select	NP_000457.1:p.Gln713=
ENST00000248633.9:c.2137C= MANE Select	ENSP00000248633.4:p.Gln713=
NM_000466.2:c.2137C=	NP_000457.1:p.Gln713=
NM_001282677.1:c.1966C=	NP_001269606.1:p.Gln656=
NM_001282677.2:c.1966C=	NP_001269606.1:p.Gln656=
NM_001282678.1:c.1513C=	NP_001269607.1:p.Gln505=
NM_001282678.2:c.1513C=	NP_001269607.1:p.Gln505=
ENST00000248633.8:c.2137C=	ENSP00000248633.4:p.Gln713=
ENST00000428214.5:c.1966C=	ENSP00000394413.1:p.Gln656=
ENST00000438045.5:c.1171C=	ENSP00000410438.1:p.Gln391=
ENST00000484913.5:n.2176C=
ENST00000496420.5:n.1813C=
XM_005250433.3:c.388C=	XP_005250490.1:p.Gln130=
XM_017012319.2:c.388C=	XP_016867808.1:p.Gln130=
XR_001744808.2:n.1164C=
XR_242246.3:n.2233C=
XR_242246.5:n.2184C=