Canonical Allele Identifier: CA2715163785

Gene: PEX1

Linked Data

• dbSNP Id: rs2116164960

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504757dup , CM000669.2:g.92504757dup	GRCh38
NC_000007.13:g.92134071dup , CM000669.1:g.92134071dup	GRCh37
NC_000007.12:g.91972007dup	NCBI36
NG_008341.1:g.28776dup
NG_008341.2:g.28776dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2047dup MANE Select	ENSP00000248633.4:p.Val683GlyfsTer12
ENST00000248633.8:c.2047dup	ENSP00000248633.4:p.Val683GlyfsTer12
ENST00000428214.5:c.1900+1492dup	ENSP00000394413.1:n.1900+1492dup
ENST00000438045.5:c.1081dup	ENSP00000410438.1:p.Val361GlyfsTer12
ENST00000484913.5:n.2086dup
ENST00000496420.5:n.1723dup
NM_000466.2:c.2047dup	NP_000457.1:p.Val683GlyfsTer12
NM_001282677.1:c.1900+1492dup	NP_001269606.1:n.1900+1492dup
NM_001282678.1:c.1423dup	NP_001269607.1:p.Val475GlyfsTer12
XM_005250433.3:c.298dup	XP_005250490.1:p.Val100GlyfsTer12
XR_242246.3:n.2143dup
XM_017012319.2:c.298dup	XP_016867808.1:p.Val100GlyfsTer12
XR_001744808.2:n.1074dup
XR_242246.5:n.2094dup
NM_000466.3:c.2047dup MANE Select	NP_000457.1:p.Val683GlyfsTer12
NM_001282677.2:c.1900+1492dup	NP_001269606.1:n.1900+1492dup
NM_001282678.2:c.1423dup	NP_001269607.1:p.Val475GlyfsTer12