Canonical Allele Identifier: CA1725948916

Gene: PEX1

Linked Data

• dbSNP Id: rs1792912390

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518570_92518571dup , CM000669.2:g.92518570_92518571dup	GRCh38
NC_000007.13:g.92147884_92147885dup , CM000669.1:g.92147884_92147885dup	GRCh37
NC_000007.12:g.91985820_91985821dup	NCBI36
NG_008341.1:g.14961_14962dup
NG_008341.2:g.14961_14962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-316_358-315dup MANE Select	ENSP00000248633.4:n.358-316_358-315dup
ENST00000248633.8:c.358-316_358-315dup	ENSP00000248633.4:n.358-316_358-315dup
ENST00000428214.5:c.358-316_358-315dup	ENSP00000394413.1:n.358-316_358-315dup
ENST00000438045.5:c.273+3531_273+3532dup	ENSP00000410438.1:n.273+3531_273+3532dup
ENST00000484913.5:n.397-316_397-315dup
NM_000466.2:c.358-316_358-315dup	NP_000457.1:n.358-316_358-315dup
NM_001282677.1:c.358-316_358-315dup	NP_001269606.1:n.358-316_358-315dup
NM_001282678.1:c.-267-316_-267-315dup	NP_001269607.1:n.-267-316_-267-315dup
XR_242246.3:n.454-316_454-315dup
XR_242246.5:n.405-316_405-315dup
NM_000466.3:c.358-316_358-315dup MANE Select	NP_000457.1:n.358-316_358-315dup
NM_001282677.2:c.358-316_358-315dup	NP_001269606.1:n.358-316_358-315dup
NM_001282678.2:c.-267-316_-267-315dup	NP_001269607.1:n.-267-316_-267-315dup