Canonical Allele Identifier: CA4341251

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1919845
• ClinVar RCV Id: RCV002603985
• dbSNP Id: rs748922613
• ExAC: 7:92134189 G / T
• gnomAD v2: 7-92134189-G-T
• gnomAD v3: 7-92504875-G-T
• gnomAD v4: 7-92504875-G-T
• COSMIC: COSM3781335
• MyVariant Identifiers: chr7:g.92134189G>T (hg19) ; chr7:g.92504875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504875G>T , CM000669.2:g.92504875G>T	GRCh38
NC_000007.13:g.92134189G>T , CM000669.1:g.92134189G>T	GRCh37
NC_000007.12:g.91972125G>T	NCBI36
NG_008341.1:g.28657C>A
NG_008341.2:g.28657C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1928C>A MANE Select	ENSP00000248633.4:p.Thr643Asn
ENST00000248633.8:c.1928C>A	ENSP00000248633.4:p.Thr643Asn
ENST00000428214.5:c.1900+1373C>A	ENSP00000394413.1:n.1900+1373C>A
ENST00000438045.5:c.962C>A	ENSP00000410438.1:p.Thr321Asn
ENST00000484913.5:n.1967C>A
ENST00000496420.5:n.1604C>A
NM_000466.2:c.1928C>A	NP_000457.1:p.Thr643Asn
NM_001282677.1:c.1900+1373C>A	NP_001269606.1:n.1900+1373C>A
NM_001282678.1:c.1304C>A	NP_001269607.1:p.Thr435Asn
XM_005250433.3:c.179C>A	XP_005250490.1:p.Thr60Asn
XR_242246.3:n.2024C>A
XM_017012319.2:c.179C>A	XP_016867808.1:p.Thr60Asn
XR_001744808.2:n.955C>A
XR_242246.5:n.1975C>A
NM_000466.3:c.1928C>A MANE Select	NP_000457.1:p.Thr643Asn
NM_001282677.2:c.1900+1373C>A	NP_001269606.1:n.1900+1373C>A
NM_001282678.2:c.1304C>A	NP_001269607.1:p.Thr435Asn