Canonical Allele Identifier: CA368202603

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1020247
• ClinVar RCV Id: RCV001319798
• dbSNP Id: rs1792895303
• gnomAD v4: 7-92518243-C-T
• MyVariant Identifiers: chr7:g.92147557C>T (hg19) ; chr7:g.92518243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518243C>T , CM000669.2:g.92518243C>T	GRCh38
NC_000007.13:g.92147557C>T , CM000669.1:g.92147557C>T	GRCh37
NC_000007.12:g.91985493C>T	NCBI36
NG_008341.1:g.15289G>A
NG_008341.2:g.15289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.370G>A MANE Select	ENSP00000248633.4:p.Val124Ile
ENST00000248633.8:c.370G>A	ENSP00000248633.4:p.Val124Ile
ENST00000428214.5:c.370G>A	ENSP00000394413.1:p.Val124Ile
ENST00000438045.5:c.273+3859G>A	ENSP00000410438.1:n.273+3859G>A
ENST00000484913.5:n.409G>A
NM_000466.2:c.370G>A	NP_000457.1:p.Val124Ile
NM_001282677.1:c.370G>A	NP_001269606.1:p.Val124Ile
NM_001282678.1:c.-255G>A	NP_001269607.1:n.-255G>A
XR_242246.3:n.466G>A
XR_242246.5:n.417G>A
NM_000466.3:c.370G>A MANE Select	NP_000457.1:p.Val124Ile
NM_001282677.2:c.370G>A	NP_001269606.1:p.Val124Ile
NM_001282678.2:c.-255G>A	NP_001269607.1:n.-255G>A