Canonical Allele Identifier: CA368203257

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1466267
• ClinVar RCV Id: RCV001963926
• dbSNP Id: rs1792936652
• gnomAD v3: 7-92519063-A-G
• gnomAD v4: 7-92519063-A-G
• MyVariant Identifiers: chr7:g.92148377A>G (hg19) ; chr7:g.92519063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519063A>G , CM000669.2:g.92519063A>G	GRCh38
NC_000007.13:g.92148377A>G , CM000669.1:g.92148377A>G	GRCh37
NC_000007.12:g.91986313A>G	NCBI36
NG_008341.1:g.14469T>C
NG_008341.2:g.14469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.289T>C MANE Select	ENSP00000248633.4:p.Cys97Arg
ENST00000248633.8:c.289T>C	ENSP00000248633.4:p.Cys97Arg
ENST00000428214.5:c.289T>C	ENSP00000394413.1:p.Cys97Arg
ENST00000438045.5:c.273+3039T>C	ENSP00000410438.1:n.273+3039T>C
ENST00000484913.5:n.293T>C
NM_000466.2:c.289T>C	NP_000457.1:p.Cys97Arg
NM_001282677.1:c.289T>C	NP_001269606.1:p.Cys97Arg
NM_001282678.1:c.-371T>C	NP_001269607.1:n.-371T>C
XR_242246.3:n.385T>C
XR_242246.5:n.336T>C
NM_000466.3:c.289T>C MANE Select	NP_000457.1:p.Cys97Arg
NM_001282677.2:c.289T>C	NP_001269606.1:p.Cys97Arg
NM_001282678.2:c.-371T>C	NP_001269607.1:n.-371T>C