Canonical Allele Identifier: CA1725938513

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504575A= , CM000669.2:g.92504575A=	GRCh38
NC_000007.13:g.92133889A= , CM000669.1:g.92133889A=	GRCh37
NC_000007.12:g.91971825A=	NCBI36
NG_008341.1:g.28957T=
NG_008341.2:g.28957T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+157T= MANE Select	ENSP00000248633.4:n.2071+157T=
ENST00000248633.8:c.2071+157T=	ENSP00000248633.4:n.2071+157T=
ENST00000428214.5:c.1901-1380T=	ENSP00000394413.1:n.1901-1380T=
ENST00000438045.5:c.1105+157T=	ENSP00000410438.1:n.1105+157T=
ENST00000484913.5:n.2110+157T=
ENST00000496420.5:n.1747+157T=
NM_000466.2:c.2071+157T=	NP_000457.1:n.2071+157T=
NM_001282677.1:c.1901-1380T=	NP_001269606.1:n.1901-1380T=
NM_001282678.1:c.1447+157T=	NP_001269607.1:n.1447+157T=
XM_005250433.3:c.322+157T=	XP_005250490.1:n.322+157T=
XR_242246.3:n.2167+157T=
XM_017012319.2:c.322+157T=	XP_016867808.1:n.322+157T=
XR_001744808.2:n.1098+157T=
XR_242246.5:n.2118+157T=
NM_000466.3:c.2071+157T= MANE Select	NP_000457.1:n.2071+157T=
NM_001282677.2:c.1901-1380T=	NP_001269606.1:n.1901-1380T=
NM_001282678.2:c.1447+157T=	NP_001269607.1:n.1447+157T=