Canonical Allele Identifier: CA368203082

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1478374
• ClinVar RCV Id: RCV001974152 ; RCV002573484
• dbSNP Id: rs1272833716
• gnomAD v4: 7-92519033-C-T
• MyVariant Identifiers: chr7:g.92148347C>T (hg19) ; chr7:g.92519033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519033C>T , CM000669.2:g.92519033C>T	GRCh38
NC_000007.13:g.92148347C>T , CM000669.1:g.92148347C>T	GRCh37
NC_000007.12:g.91986283C>T	NCBI36
NG_008341.1:g.14499G>A
NG_008341.2:g.14499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.319G>A MANE Select	ENSP00000248633.4:p.Glu107Lys
ENST00000248633.8:c.319G>A	ENSP00000248633.4:p.Glu107Lys
ENST00000428214.5:c.319G>A	ENSP00000394413.1:p.Glu107Lys
ENST00000438045.5:c.273+3069G>A	ENSP00000410438.1:n.273+3069G>A
ENST00000484913.5:n.323G>A
NM_000466.2:c.319G>A	NP_000457.1:p.Glu107Lys
NM_001282677.1:c.319G>A	NP_001269606.1:p.Glu107Lys
NM_001282678.1:c.-341G>A	NP_001269607.1:n.-341G>A
XR_242246.3:n.415G>A
XR_242246.5:n.366G>A
NM_000466.3:c.319G>A MANE Select	NP_000457.1:p.Glu107Lys
NM_001282677.2:c.319G>A	NP_001269606.1:p.Glu107Lys
NM_001282678.2:c.-341G>A	NP_001269607.1:n.-341G>A