Canonical Allele Identifier: CA456484117

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2790576
• ClinVar RCV Id: RCV003760064
• dbSNP Id: rs1793078315
• gnomAD v3: 7-92522198-G-A
• gnomAD v4: 7-92522198-G-A
• COSMIC: COSM4895338
• MyVariant Identifiers: chr7:g.92151512G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522198G>A , CM000669.2:g.92522198G>A	GRCh38
NC_000007.13:g.92151512G>A , CM000669.1:g.92151512G>A	GRCh37
NC_000007.12:g.91989448G>A	NCBI36
NG_008341.1:g.11334C>T
NG_008341.2:g.11334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.177C>T MANE Select	ENSP00000248633.4:p.Ser59=
ENST00000248633.8:c.177C>T	ENSP00000248633.4:p.Ser59=
ENST00000428214.5:c.177C>T	ENSP00000394413.1:p.Ser59=
ENST00000438045.5:c.177C>T	ENSP00000410438.1:p.Ser59=
ENST00000484913.5:n.181C>T
NM_000466.2:c.177C>T	NP_000457.1:p.Ser59=
NM_001282677.1:c.177C>T	NP_001269606.1:p.Ser59=
NM_001282678.1:c.-483C>T	NP_001269607.1:n.-483C>T
XR_242246.3:n.273C>T
XR_242246.5:n.224C>T
NM_000466.3:c.177C>T MANE Select	NP_000457.1:p.Ser59=
NM_001282677.2:c.177C>T	NP_001269606.1:p.Ser59=
NM_001282678.2:c.-483C>T	NP_001269607.1:n.-483C>T