Canonical Allele Identifier: CA4341516

Gene: PEX1

Linked Data

• ClinVar Variation Id: 283861
• ClinVar RCV Id: RCV000344496 ; RCV000958357 ; RCV001420988 ; RCV003437048 ; RCV003955455
• dbSNP Id: rs146312634
• ExAC: 7:92146895 T / C
• gnomAD v2: 7-92146895-T-C
• gnomAD v3: 7-92517581-T-C
• gnomAD v4: 7-92517581-T-C
• MyVariant Identifiers: chr7:g.92146895T>C (hg19) ; chr7:g.92517581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517581T>C , CM000669.2:g.92517581T>C	GRCh38
NC_000007.13:g.92146895T>C , CM000669.1:g.92146895T>C	GRCh37
NC_000007.12:g.91984831T>C	NCBI36
NG_008341.1:g.15951A>G
NG_008341.2:g.15951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.934A>G MANE Select	ENSP00000248633.4:p.Ile312Val
ENST00000248633.8:c.934A>G	ENSP00000248633.4:p.Ile312Val
ENST00000428214.5:c.934A>G	ENSP00000394413.1:p.Ile312Val
ENST00000438045.5:c.274-3614A>G	ENSP00000410438.1:n.274-3614A>G
ENST00000484913.5:n.973A>G
NM_000466.2:c.934A>G	NP_000457.1:p.Ile312Val
NM_001282677.1:c.934A>G	NP_001269606.1:p.Ile312Val
NM_001282678.1:c.310A>G	NP_001269607.1:p.Ile104Val
XR_242246.3:n.1030A>G
XM_017012319.2:c.-733A>G	XP_016867808.1:n.-733A>G
XR_001744808.2:n.44A>G
XR_242246.5:n.981A>G
NM_000466.3:c.934A>G MANE Select	NP_000457.1:p.Ile312Val
NM_001282677.2:c.934A>G	NP_001269606.1:p.Ile312Val
NM_001282678.2:c.310A>G	NP_001269607.1:p.Ile104Val