Canonical Allele Identifier: CA456483470

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1591297
• ClinVar RCV Id: RCV002107623
• dbSNP Id: rs1345707685
• gnomAD v2: 7-92135578-G-A
• gnomAD v4: 7-92506264-G-A
• MyVariant Identifiers: chr7:g.92135578G>A (hg19) ; chr7:g.92506264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506264G>A , CM000669.2:g.92506264G>A	GRCh38
NC_000007.13:g.92135578G>A , CM000669.1:g.92135578G>A	GRCh37
NC_000007.12:g.91973514G>A	NCBI36
NG_008341.1:g.27268C>T
NG_008341.2:g.27268C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1884C>T MANE Select	ENSP00000248633.4:p.Asp628=
ENST00000248633.8:c.1884C>T	ENSP00000248633.4:p.Asp628=
ENST00000422866.1:c.702C>T
ENST00000428214.5:c.1884C>T	ENSP00000394413.1:p.Asp628=
ENST00000438045.5:c.918C>T	ENSP00000410438.1:p.Asp306=
ENST00000484913.5:n.1923C>T
ENST00000496420.5:n.1560C>T
NM_000466.2:c.1884C>T	NP_000457.1:p.Asp628=
NM_001282677.1:c.1884C>T	NP_001269606.1:p.Asp628=
NM_001282678.1:c.1260C>T	NP_001269607.1:p.Asp420=
XM_005250433.3:c.135C>T	XP_005250490.1:p.Asp45=
XR_242246.3:n.1980C>T
XM_017012319.2:c.135C>T	XP_016867808.1:p.Asp45=
XR_001744808.2:n.911C>T
XR_242246.5:n.1931C>T
NM_000466.3:c.1884C>T MANE Select	NP_000457.1:p.Asp628=
NM_001282677.2:c.1884C>T	NP_001269606.1:p.Asp628=
NM_001282678.2:c.1260C>T	NP_001269607.1:p.Asp420=