Canonical Allele Identifier: CA1725947491

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517549A= , CM000669.2:g.92517549A=	GRCh38
NC_000007.13:g.92146863A= , CM000669.1:g.92146863A=	GRCh37
NC_000007.12:g.91984799A=	NCBI36
NG_008341.1:g.15983T=
NG_008341.2:g.15983T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.966T= MANE Select	ENSP00000248633.4:p.Phe322=
ENST00000248633.8:c.966T=	ENSP00000248633.4:p.Phe322=
ENST00000428214.5:c.966T=	ENSP00000394413.1:p.Phe322=
ENST00000438045.5:c.274-3582T=	ENSP00000410438.1:n.274-3582T=
ENST00000484913.5:n.1005T=
NM_000466.2:c.966T=	NP_000457.1:p.Phe322=
NM_001282677.1:c.966T=	NP_001269606.1:p.Phe322=
NM_001282678.1:c.342T=	NP_001269607.1:p.Phe114=
XR_242246.3:n.1062T=
XM_017012319.2:c.-701T=	XP_016867808.1:n.-701T=
XR_001744808.2:n.76T=
XR_242246.5:n.1013T=
NM_000466.3:c.966T= MANE Select	NP_000457.1:p.Phe322=
NM_001282677.2:c.966T=	NP_001269606.1:p.Phe322=
NM_001282678.2:c.342T=	NP_001269607.1:p.Phe114=