Canonical Allele Identifier: CA4341489

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1988426
• ClinVar RCV Id: RCV002781298
• dbSNP Id: rs769973410
• ExAC: 7:92146718 T / C
• gnomAD v2: 7-92146718-T-C
• gnomAD v4: 7-92517404-T-C
• MyVariant Identifiers: chr7:g.92146718T>C (hg19) ; chr7:g.92517404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517404T>C , CM000669.2:g.92517404T>C	GRCh38
NC_000007.13:g.92146718T>C , CM000669.1:g.92146718T>C	GRCh37
NC_000007.12:g.91984654T>C	NCBI36
NG_008341.1:g.16128A>G
NG_008341.2:g.16128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1111A>G MANE Select	ENSP00000248633.4:p.Arg371Gly
ENST00000248633.8:c.1111A>G	ENSP00000248633.4:p.Arg371Gly
ENST00000422866.1:c.12A>G
ENST00000428214.5:c.1111A>G	ENSP00000394413.1:p.Arg371Gly
ENST00000438045.5:c.274-3437A>G	ENSP00000410438.1:n.274-3437A>G
ENST00000484913.5:n.1150A>G
NM_000466.2:c.1111A>G	NP_000457.1:p.Arg371Gly
NM_001282677.1:c.1111A>G	NP_001269606.1:p.Arg371Gly
NM_001282678.1:c.487A>G	NP_001269607.1:p.Arg163Gly
XR_242246.3:n.1207A>G
XM_017012319.2:c.-556A>G	XP_016867808.1:n.-556A>G
XR_001744808.2:n.221A>G
XR_242246.5:n.1158A>G
NM_000466.3:c.1111A>G MANE Select	NP_000457.1:p.Arg371Gly
NM_001282677.2:c.1111A>G	NP_001269606.1:p.Arg371Gly
NM_001282678.2:c.487A>G	NP_001269607.1:p.Arg163Gly