Canonical Allele Identifier: CA1725938001

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511037T= , CM000669.2:g.92511037T=	GRCh38
NC_000007.13:g.92140351T= , CM000669.1:g.92140351T=	GRCh37
NC_000007.12:g.91978287T=	NCBI36
NG_008341.1:g.22495A=
NG_008341.2:g.22495A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1494A= MANE Select	ENSP00000248633.4:p.Glu498=
ENST00000248633.8:c.1494A=	ENSP00000248633.4:p.Glu498=
ENST00000422866.1:c.395A=
ENST00000428214.5:c.1494A=	ENSP00000394413.1:p.Glu498=
ENST00000438045.5:c.528A=	ENSP00000410438.1:p.Glu176=
ENST00000476923.1:n.255A=
ENST00000484913.5:n.1533A=
NM_000466.2:c.1494A=	NP_000457.1:p.Glu498=
NM_001282677.1:c.1494A=	NP_001269606.1:p.Glu498=
NM_001282678.1:c.870A=	NP_001269607.1:p.Glu290=
XM_005250433.3:c.-173A=	XP_005250490.1:n.-173A=
XR_242246.3:n.1590A=
XM_017012319.2:c.-173A=	XP_016867808.1:n.-173A=
XR_001744808.2:n.604A=
XR_242246.5:n.1541A=
NM_000466.3:c.1494A= MANE Select	NP_000457.1:p.Glu498=
NM_001282677.2:c.1494A=	NP_001269606.1:p.Glu498=
NM_001282678.2:c.870A=	NP_001269607.1:p.Glu290=