Canonical Allele Identifier: CA1725947460

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517531A= , CM000669.2:g.92517531A=	GRCh38
NC_000007.13:g.92146845A= , CM000669.1:g.92146845A=	GRCh37
NC_000007.12:g.91984781A=	NCBI36
NG_008341.1:g.16001T=
NG_008341.2:g.16001T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.984T= MANE Select	ENSP00000248633.4:p.Phe328=
ENST00000248633.8:c.984T=	ENSP00000248633.4:p.Phe328=
ENST00000428214.5:c.984T=	ENSP00000394413.1:p.Phe328=
ENST00000438045.5:c.274-3564T=	ENSP00000410438.1:n.274-3564T=
ENST00000484913.5:n.1023T=
NM_000466.2:c.984T=	NP_000457.1:p.Phe328=
NM_001282677.1:c.984T=	NP_001269606.1:p.Phe328=
NM_001282678.1:c.360T=	NP_001269607.1:p.Phe120=
XR_242246.3:n.1080T=
XM_017012319.2:c.-683T=	XP_016867808.1:n.-683T=
XR_001744808.2:n.94T=
XR_242246.5:n.1031T=
NM_000466.3:c.984T= MANE Select	NP_000457.1:p.Phe328=
NM_001282677.2:c.984T=	NP_001269606.1:p.Phe328=
NM_001282678.2:c.360T=	NP_001269607.1:p.Phe120=