Canonical Allele Identifier: CA10604348

Gene: PEX1

Linked Data

• ClinVar Variation Id: 282929
• ClinVar RCV Id: RCV000312462
• dbSNP Id: rs769973410
• gnomAD v4: 7-92517404-T-A
• MyVariant Identifiers: chr7:g.92146718T>A (hg19) ; chr7:g.92517404T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1111A>T MANE Select	ENSP00000248633.4:p.Arg371Trp
ENST00000248633.8:c.1111A>T	ENSP00000248633.4:p.Arg371Trp
ENST00000422866.1:c.12A>T
ENST00000428214.5:c.1111A>T	ENSP00000394413.1:p.Arg371Trp
ENST00000438045.5:c.274-3437A>T	ENSP00000410438.1:n.274-3437A>T
ENST00000484913.5:n.1150A>T
NM_000466.2:c.1111A>T	NP_000457.1:p.Arg371Trp
NM_001282677.1:c.1111A>T	NP_001269606.1:p.Arg371Trp
NM_001282678.1:c.487A>T	NP_001269607.1:p.Arg163Trp
XR_242246.3:n.1207A>T
XM_017012319.2:c.-556A>T	XP_016867808.1:n.-556A>T
XR_001744808.2:n.221A>T
XR_242246.5:n.1158A>T
NM_000466.3:c.1111A>T MANE Select	NP_000457.1:p.Arg371Trp
NM_001282677.2:c.1111A>T	NP_001269606.1:p.Arg371Trp
NM_001282678.2:c.487A>T	NP_001269607.1:p.Arg163Trp