Canonical Allele Identifier: CA1725942146

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507056G= , CM000669.2:g.92507056G=	GRCh38
NC_000007.13:g.92136370G= , CM000669.1:g.92136370G=	GRCh37
NC_000007.12:g.91974306G=	NCBI36
NG_008341.1:g.26476C=
NG_008341.2:g.26476C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1741C= MANE Select	ENSP00000248633.4:p.Arg581=
ENST00000248633.8:c.1741C=	ENSP00000248633.4:p.Arg581=
ENST00000422866.1:c.559C=
ENST00000428214.5:c.1741C=	ENSP00000394413.1:p.Arg581=
ENST00000438045.5:c.775C=	ENSP00000410438.1:p.Arg259=
ENST00000484913.5:n.1780C=
ENST00000496420.5:n.768C=
NM_000466.2:c.1741C=	NP_000457.1:p.Arg581=
NM_001282677.1:c.1741C=	NP_001269606.1:p.Arg581=
NM_001282678.1:c.1117C=	NP_001269607.1:p.Arg373=
XM_005250433.3:c.-9C=	XP_005250490.1:n.-9C=
XR_242246.3:n.1837C=
XM_017012319.2:c.-9C=	XP_016867808.1:n.-9C=
XR_001744808.2:n.768C=
XR_242246.5:n.1788C=
NM_000466.3:c.1741C= MANE Select	NP_000457.1:p.Arg581=
NM_001282677.2:c.1741C=	NP_001269606.1:p.Arg581=
NM_001282678.2:c.1117C=	NP_001269607.1:p.Arg373=