Canonical Allele Identifier: CA1725938896

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504808G= , CM000669.2:g.92504808G=	GRCh38
NC_000007.13:g.92134122G= , CM000669.1:g.92134122G=	GRCh37
NC_000007.12:g.91972058G=	NCBI36
NG_008341.1:g.28724C=
NG_008341.2:g.28724C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1995C= MANE Select	ENSP00000248633.4:p.Asp665=
ENST00000248633.8:c.1995C=	ENSP00000248633.4:p.Asp665=
ENST00000428214.5:c.1900+1440C=	ENSP00000394413.1:n.1900+1440C=
ENST00000438045.5:c.1029C=	ENSP00000410438.1:p.Asp343=
ENST00000484913.5:n.2034C=
ENST00000496420.5:n.1671C=
NM_000466.2:c.1995C=	NP_000457.1:p.Asp665=
NM_001282677.1:c.1900+1440C=	NP_001269606.1:n.1900+1440C=
NM_001282678.1:c.1371C=	NP_001269607.1:p.Asp457=
XM_005250433.3:c.246C=	XP_005250490.1:p.Asp82=
XR_242246.3:n.2091C=
XM_017012319.2:c.246C=	XP_016867808.1:p.Asp82=
XR_001744808.2:n.1022C=
XR_242246.5:n.2042C=
NM_000466.3:c.1995C= MANE Select	NP_000457.1:p.Asp665=
NM_001282677.2:c.1900+1440C=	NP_001269606.1:n.1900+1440C=
NM_001282678.2:c.1371C=	NP_001269607.1:p.Asp457=