Canonical Allele Identifier: CA368203058

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2228809
• ClinVar RCV Id: RCV002692276
• gnomAD v4: 7-92519030-C-T
• MyVariant Identifiers: chr7:g.92148344C>T (hg19) ; chr7:g.92519030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519030C>T , CM000669.2:g.92519030C>T	GRCh38
NC_000007.13:g.92148344C>T , CM000669.1:g.92148344C>T	GRCh37
NC_000007.12:g.91986280C>T	NCBI36
NG_008341.1:g.14502G>A
NG_008341.2:g.14502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.322G>A MANE Select	ENSP00000248633.4:p.Val108Met
ENST00000248633.8:c.322G>A	ENSP00000248633.4:p.Val108Met
ENST00000428214.5:c.322G>A	ENSP00000394413.1:p.Val108Met
ENST00000438045.5:c.273+3072G>A	ENSP00000410438.1:n.273+3072G>A
ENST00000484913.5:n.326G>A
NM_000466.2:c.322G>A	NP_000457.1:p.Val108Met
NM_001282677.1:c.322G>A	NP_001269606.1:p.Val108Met
NM_001282678.1:c.-338G>A	NP_001269607.1:n.-338G>A
XR_242246.3:n.418G>A
XR_242246.5:n.369G>A
NM_000466.3:c.322G>A MANE Select	NP_000457.1:p.Val108Met
NM_001282677.2:c.322G>A	NP_001269606.1:p.Val108Met
NM_001282678.2:c.-338G>A	NP_001269607.1:n.-338G>A