Canonical Allele Identifier: CA651744573

Gene: PEX1

Linked Data

• COSMIC: COSN25010029

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499663dup , CM000669.2:g.92499663dup	GRCh38
NC_000007.13:g.92128977dup , CM000669.1:g.92128977dup	GRCh37
NC_000007.12:g.91966913dup	NCBI36
NG_008341.1:g.33870dup
NG_008341.2:g.33870dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+42dup MANE Select	ENSP00000248633.4:n.2718+42dup
ENST00000248633.8:c.2718+42dup	ENSP00000248633.4:n.2718+42dup
ENST00000428214.5:c.2547+42dup	ENSP00000394413.1:n.2547+42dup
ENST00000438045.5:c.1752+42dup	ENSP00000410438.1:n.1752+42dup
ENST00000484913.5:n.2757+42dup
ENST00000496420.5:n.2610+42dup
NM_000466.2:c.2718+42dup	NP_000457.1:n.2718+42dup
NM_001282677.1:c.2547+42dup	NP_001269606.1:n.2547+42dup
NM_001282678.1:c.2094+42dup	NP_001269607.1:n.2094+42dup
XM_005250433.3:c.969+42dup	XP_005250490.1:n.969+42dup
XR_242246.3:n.2814+42dup
XM_017012319.2:c.969+42dup	XP_016867808.1:n.969+42dup
XR_001744808.2:n.1745+42dup
XR_242246.5:n.2765+42dup
NM_000466.3:c.2718+42dup MANE Select	NP_000457.1:n.2718+42dup
NM_001282677.2:c.2547+42dup	NP_001269606.1:n.2547+42dup
NM_001282678.2:c.2094+42dup	NP_001269607.1:n.2094+42dup