Canonical Allele Identifier: CA2683720585

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2816936
• ClinVar RCV Id: RCV003760919
• gnomAD v4: 7-92518058-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518058A>G , CM000669.2:g.92518058A>G	GRCh38
NC_000007.13:g.92147372A>G , CM000669.1:g.92147372A>G	GRCh37
NC_000007.12:g.91985308A>G	NCBI36
NG_008341.1:g.15474T>C
NG_008341.2:g.15474T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.473-16T>C MANE Select	ENSP00000248633.4:n.473-16T>C
ENST00000248633.8:c.473-16T>C	ENSP00000248633.4:n.473-16T>C
ENST00000428214.5:c.473-16T>C	ENSP00000394413.1:n.473-16T>C
ENST00000438045.5:c.273+4044T>C	ENSP00000410438.1:n.273+4044T>C
ENST00000484913.5:n.512-16T>C
NM_000466.2:c.473-16T>C	NP_000457.1:n.473-16T>C
NM_001282677.1:c.473-16T>C	NP_001269606.1:n.473-16T>C
NM_001282678.1:c.-152-16T>C	NP_001269607.1:n.-152-16T>C
XR_242246.3:n.569-16T>C
XR_242246.5:n.520-16T>C
NM_000466.3:c.473-16T>C MANE Select	NP_000457.1:n.473-16T>C
NM_001282677.2:c.473-16T>C	NP_001269606.1:n.473-16T>C
NM_001282678.2:c.-152-16T>C	NP_001269607.1:n.-152-16T>C