Canonical Allele Identifier: CA1725947550

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517595T= , CM000669.2:g.92517595T=	GRCh38
NC_000007.13:g.92146909T= , CM000669.1:g.92146909T=	GRCh37
NC_000007.12:g.91984845T=	NCBI36
NG_008341.1:g.15937A=
NG_008341.2:g.15937A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.920A= MANE Select	ENSP00000248633.4:p.His307=
ENST00000248633.8:c.920A=	ENSP00000248633.4:p.His307=
ENST00000428214.5:c.920A=	ENSP00000394413.1:p.His307=
ENST00000438045.5:c.274-3628A=	ENSP00000410438.1:n.274-3628A=
ENST00000484913.5:n.959A=
NM_000466.2:c.920A=	NP_000457.1:p.His307=
NM_001282677.1:c.920A=	NP_001269606.1:p.His307=
NM_001282678.1:c.296A=	NP_001269607.1:p.His99=
XR_242246.3:n.1016A=
XM_017012319.2:c.-747A=	XP_016867808.1:n.-747A=
XR_001744808.2:n.30A=
XR_242246.5:n.967A=
NM_000466.3:c.920A= MANE Select	NP_000457.1:p.His307=
NM_001282677.2:c.920A=	NP_001269606.1:p.His307=
NM_001282678.2:c.296A=	NP_001269607.1:p.His99=