Canonical Allele Identifier: CA456484118

Gene: PEX1

Linked Data

• ClinVar Variation Id: 3006204
• ClinVar RCV Id: RCV003866355
• dbSNP Id: rs1464417014
• gnomAD v2: 7-92151515-C-T
• gnomAD v4: 7-92522201-C-T
• MyVariant Identifiers: chr7:g.92151515C>T (hg19) ; chr7:g.92522201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522201C>T , CM000669.2:g.92522201C>T	GRCh38
NC_000007.13:g.92151515C>T , CM000669.1:g.92151515C>T	GRCh37
NC_000007.12:g.91989451C>T	NCBI36
NG_008341.1:g.11331G>A
NG_008341.2:g.11331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.174G>A MANE Select	ENSP00000248633.4:p.Leu58=
ENST00000248633.8:c.174G>A	ENSP00000248633.4:p.Leu58=
ENST00000428214.5:c.174G>A	ENSP00000394413.1:p.Leu58=
ENST00000438045.5:c.174G>A	ENSP00000410438.1:p.Leu58=
ENST00000484913.5:n.178G>A
NM_000466.2:c.174G>A	NP_000457.1:p.Leu58=
NM_001282677.1:c.174G>A	NP_001269606.1:p.Leu58=
NM_001282678.1:c.-486G>A	NP_001269607.1:n.-486G>A
XR_242246.3:n.270G>A
XR_242246.5:n.221G>A
NM_000466.3:c.174G>A MANE Select	NP_000457.1:p.Leu58=
NM_001282677.2:c.174G>A	NP_001269606.1:p.Leu58=
NM_001282678.2:c.-486G>A	NP_001269607.1:n.-486G>A