Canonical Allele Identifier: CA1725947113

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517197T= , CM000669.2:g.92517197T=	GRCh38
NC_000007.13:g.92146511T= , CM000669.1:g.92146511T=	GRCh37
NC_000007.12:g.91984447T=	NCBI36
NG_008341.1:g.16335A=
NG_008341.2:g.16335A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+79A= MANE Select	ENSP00000248633.4:n.1239+79A=
ENST00000248633.8:c.1239+79A=	ENSP00000248633.4:n.1239+79A=
ENST00000422866.1:c.140+79A=
ENST00000428214.5:c.1239+79A=	ENSP00000394413.1:n.1239+79A=
ENST00000438045.5:c.274-3230A=	ENSP00000410438.1:n.274-3230A=
ENST00000484913.5:n.1278+79A=
NM_000466.2:c.1239+79A=	NP_000457.1:n.1239+79A=
NM_001282677.1:c.1239+79A=	NP_001269606.1:n.1239+79A=
NM_001282678.1:c.615+79A=	NP_001269607.1:n.615+79A=
XR_242246.3:n.1335+79A=
XM_017012319.2:c.-428+79A=	XP_016867808.1:n.-428+79A=
XR_001744808.2:n.349+79A=
XR_242246.5:n.1286+79A=
NM_000466.3:c.1239+79A= MANE Select	NP_000457.1:n.1239+79A=
NM_001282677.2:c.1239+79A=	NP_001269606.1:n.1239+79A=
NM_001282678.2:c.615+79A=	NP_001269607.1:n.615+79A=