Canonical Allele Identifier: CA1725951672

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522205A= , CM000669.2:g.92522205A=	GRCh38
NC_000007.13:g.92151519A= , CM000669.1:g.92151519A=	GRCh37
NC_000007.12:g.91989455A=	NCBI36
NG_008341.1:g.11327T=
NG_008341.2:g.11327T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.170T= MANE Select	ENSP00000248633.4:p.Phe57=
ENST00000248633.8:c.170T=	ENSP00000248633.4:p.Phe57=
ENST00000428214.5:c.170T=	ENSP00000394413.1:p.Phe57=
ENST00000438045.5:c.170T=	ENSP00000410438.1:p.Phe57=
ENST00000484913.5:n.174T=
NM_000466.2:c.170T=	NP_000457.1:p.Phe57=
NM_001282677.1:c.170T=	NP_001269606.1:p.Phe57=
NM_001282678.1:c.-490T=	NP_001269607.1:n.-490T=
XR_242246.3:n.266T=
XR_242246.5:n.217T=
NM_000466.3:c.170T= MANE Select	NP_000457.1:p.Phe57=
NM_001282677.2:c.170T=	NP_001269606.1:p.Phe57=
NM_001282678.2:c.-490T=	NP_001269607.1:n.-490T=