Canonical Allele Identifier: CA368201817

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2499623
• ClinVar RCV Id: RCV003223550
• gnomAD v4: 7-92518031-G-T
• MyVariant Identifiers: chr7:g.92147345G>T (hg19) ; chr7:g.92518031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518031G>T , CM000669.2:g.92518031G>T	GRCh38
NC_000007.13:g.92147345G>T , CM000669.1:g.92147345G>T	GRCh37
NC_000007.12:g.91985281G>T	NCBI36
NG_008341.1:g.15501C>A
NG_008341.2:g.15501C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.484C>A MANE Select	ENSP00000248633.4:p.Pro162Thr
ENST00000248633.8:c.484C>A	ENSP00000248633.4:p.Pro162Thr
ENST00000428214.5:c.484C>A	ENSP00000394413.1:p.Pro162Thr
ENST00000438045.5:c.274-4064C>A	ENSP00000410438.1:n.274-4064C>A
ENST00000484913.5:n.523C>A
NM_000466.2:c.484C>A	NP_000457.1:p.Pro162Thr
NM_001282677.1:c.484C>A	NP_001269606.1:p.Pro162Thr
NM_001282678.1:c.-141C>A	NP_001269607.1:n.-141C>A
XR_242246.3:n.580C>A
XR_242246.5:n.531C>A
NM_000466.3:c.484C>A MANE Select	NP_000457.1:p.Pro162Thr
NM_001282677.2:c.484C>A	NP_001269606.1:p.Pro162Thr
NM_001282678.2:c.-141C>A	NP_001269607.1:n.-141C>A