Canonical Allele Identifier: CA1725937994

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511030G= , CM000669.2:g.92511030G=	GRCh38
NC_000007.13:g.92140344G= , CM000669.1:g.92140344G=	GRCh37
NC_000007.12:g.91978280G=	NCBI36
NG_008341.1:g.22502C=
NG_008341.2:g.22502C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1501C= MANE Select	ENSP00000248633.4:p.Leu501=
ENST00000248633.8:c.1501C=	ENSP00000248633.4:p.Leu501=
ENST00000422866.1:c.402C=
ENST00000428214.5:c.1501C=	ENSP00000394413.1:p.Leu501=
ENST00000438045.5:c.535C=	ENSP00000410438.1:p.Leu179=
ENST00000476923.1:n.262C=
ENST00000484913.5:n.1540C=
NM_000466.2:c.1501C=	NP_000457.1:p.Leu501=
NM_001282677.1:c.1501C=	NP_001269606.1:p.Leu501=
NM_001282678.1:c.877C=	NP_001269607.1:p.Leu293=
XM_005250433.3:c.-166C=	XP_005250490.1:n.-166C=
XR_242246.3:n.1597C=
XM_017012319.2:c.-166C=	XP_016867808.1:n.-166C=
XR_001744808.2:n.611C=
XR_242246.5:n.1548C=
NM_000466.3:c.1501C= MANE Select	NP_000457.1:p.Leu501=
NM_001282677.2:c.1501C=	NP_001269606.1:p.Leu501=
NM_001282678.2:c.877C=	NP_001269607.1:p.Leu293=