Canonical Allele Identifier: CA2580077822

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2117193
• ClinVar RCV Id: RCV003027616

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496793dup , CM000669.2:g.92496793dup	GRCh38
NC_000007.13:g.92126107dup , CM000669.1:g.92126107dup	GRCh37
NC_000007.12:g.91964043dup	NCBI36
NG_008341.1:g.36740dup
NG_008341.2:g.36740dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-15dup MANE Select	ENSP00000248633.4:n.2719-15dup
ENST00000248633.8:c.2719-15dup	ENSP00000248633.4:n.2719-15dup
ENST00000428214.5:c.2548-15dup	ENSP00000394413.1:n.2548-15dup
ENST00000438045.5:c.1753-15dup	ENSP00000410438.1:n.1753-15dup
ENST00000484913.5:n.2758-15dup
ENST00000496420.5:n.2611-15dup
NM_000466.2:c.2719-15dup	NP_000457.1:n.2719-15dup
NM_001282677.1:c.2548-15dup	NP_001269606.1:n.2548-15dup
NM_001282678.1:c.2095-15dup	NP_001269607.1:n.2095-15dup
XM_005250433.3:c.970-15dup	XP_005250490.1:n.970-15dup
XR_242246.3:n.2815-15dup
XM_017012319.2:c.970-15dup	XP_016867808.1:n.970-15dup
XR_001744808.2:n.1746-15dup
XR_242246.5:n.2766-15dup
NM_000466.3:c.2719-15dup MANE Select	NP_000457.1:n.2719-15dup
NM_001282677.2:c.2548-15dup	NP_001269606.1:n.2548-15dup
NM_001282678.2:c.2095-15dup	NP_001269607.1:n.2095-15dup