Canonical Allele Identifier: CA1725938637

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504697G= , CM000669.2:g.92504697G=	GRCh38
NC_000007.13:g.92134011G= , CM000669.1:g.92134011G=	GRCh37
NC_000007.12:g.91971947G=	NCBI36
NG_008341.1:g.28835C=
NG_008341.2:g.28835C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+35C= MANE Select	ENSP00000248633.4:n.2071+35C=
ENST00000248633.8:c.2071+35C=	ENSP00000248633.4:n.2071+35C=
ENST00000428214.5:c.1901-1502C=	ENSP00000394413.1:n.1901-1502C=
ENST00000438045.5:c.1105+35C=	ENSP00000410438.1:n.1105+35C=
ENST00000484913.5:n.2110+35C=
ENST00000496420.5:n.1747+35C=
NM_000466.2:c.2071+35C=	NP_000457.1:n.2071+35C=
NM_001282677.1:c.1901-1502C=	NP_001269606.1:n.1901-1502C=
NM_001282678.1:c.1447+35C=	NP_001269607.1:n.1447+35C=
XM_005250433.3:c.322+35C=	XP_005250490.1:n.322+35C=
XR_242246.3:n.2167+35C=
XM_017012319.2:c.322+35C=	XP_016867808.1:n.322+35C=
XR_001744808.2:n.1098+35C=
XR_242246.5:n.2118+35C=
NM_000466.3:c.2071+35C= MANE Select	NP_000457.1:n.2071+35C=
NM_001282677.2:c.1901-1502C=	NP_001269606.1:n.1901-1502C=
NM_001282678.2:c.1447+35C=	NP_001269607.1:n.1447+35C=