Canonical Allele Identifier: CA4341536

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1017669
• ClinVar RCV Id: RCV001316857 ; RCV003898302
• dbSNP Id: rs780119112
• ExAC: 7:92147026 G / C
• gnomAD v2: 7-92147026-G-C
• gnomAD v3: 7-92517712-G-C
• gnomAD v4: 7-92517712-G-C
• MyVariant Identifiers: chr7:g.92147026G>C (hg19) ; chr7:g.92517712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517712G>C , CM000669.2:g.92517712G>C	GRCh38
NC_000007.13:g.92147026G>C , CM000669.1:g.92147026G>C	GRCh37
NC_000007.12:g.91984962G>C	NCBI36
NG_008341.1:g.15820C>G
NG_008341.2:g.15820C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.803C>G MANE Select	ENSP00000248633.4:p.Thr268Ser
ENST00000248633.8:c.803C>G	ENSP00000248633.4:p.Thr268Ser
ENST00000428214.5:c.803C>G	ENSP00000394413.1:p.Thr268Ser
ENST00000438045.5:c.274-3745C>G	ENSP00000410438.1:n.274-3745C>G
ENST00000484913.5:n.842C>G
NM_000466.2:c.803C>G	NP_000457.1:p.Thr268Ser
NM_001282677.1:c.803C>G	NP_001269606.1:p.Thr268Ser
NM_001282678.1:c.179C>G	NP_001269607.1:p.Thr60Ser
XR_242246.3:n.899C>G
XR_242246.5:n.850C>G
NM_000466.3:c.803C>G MANE Select	NP_000457.1:p.Thr268Ser
NM_001282677.2:c.803C>G	NP_001269606.1:p.Thr268Ser
NM_001282678.2:c.179C>G	NP_001269607.1:p.Thr60Ser