Canonical Allele Identifier: CA1725948418

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1112405
• ClinVar RCV Id: RCV001439341 ; RCV003938768
• dbSNP Id: rs1792887415

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518131T>C , CM000669.2:g.92518131T>C	GRCh38
NC_000007.13:g.92147445T>C , CM000669.1:g.92147445T>C	GRCh37
NC_000007.12:g.91985381T>C	NCBI36
NG_008341.1:g.15401A>G
NG_008341.2:g.15401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+10A>G MANE Select	ENSP00000248633.4:n.472+10A>G
ENST00000248633.8:c.472+10A>G	ENSP00000248633.4:n.472+10A>G
ENST00000428214.5:c.472+10A>G	ENSP00000394413.1:n.472+10A>G
ENST00000438045.5:c.273+3971A>G	ENSP00000410438.1:n.273+3971A>G
ENST00000484913.5:n.511+10A>G
NM_000466.2:c.472+10A>G	NP_000457.1:n.472+10A>G
NM_001282677.1:c.472+10A>G	NP_001269606.1:n.472+10A>G
NM_001282678.1:c.-153+10A>G	NP_001269607.1:n.-153+10A>G
XR_242246.3:n.568+10A>G
XR_242246.5:n.519+10A>G
NM_000466.3:c.472+10A>G MANE Select	NP_000457.1:n.472+10A>G
NM_001282677.2:c.472+10A>G	NP_001269606.1:n.472+10A>G
NM_001282678.2:c.-153+10A>G	NP_001269607.1:n.-153+10A>G