Canonical Allele Identifier: CA4341250

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1617512
• ClinVar RCV Id: RCV002079301
• dbSNP Id: rs772780510
• ExAC: 7:92134188 G / T
• gnomAD v2: 7-92134188-G-T
• gnomAD v4: 7-92504874-G-T
• MyVariant Identifiers: chr7:g.92134188G>T (hg19) ; chr7:g.92504874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504874G>T , CM000669.2:g.92504874G>T	GRCh38
NC_000007.13:g.92134188G>T , CM000669.1:g.92134188G>T	GRCh37
NC_000007.12:g.91972124G>T	NCBI36
NG_008341.1:g.28658C>A
NG_008341.2:g.28658C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1929C>A MANE Select	ENSP00000248633.4:p.Thr643=
ENST00000248633.8:c.1929C>A	ENSP00000248633.4:p.Thr643=
ENST00000428214.5:c.1900+1374C>A	ENSP00000394413.1:n.1900+1374C>A
ENST00000438045.5:c.963C>A	ENSP00000410438.1:p.Thr321=
ENST00000484913.5:n.1968C>A
ENST00000496420.5:n.1605C>A
NM_000466.2:c.1929C>A	NP_000457.1:p.Thr643=
NM_001282677.1:c.1900+1374C>A	NP_001269606.1:n.1900+1374C>A
NM_001282678.1:c.1305C>A	NP_001269607.1:p.Thr435=
XM_005250433.3:c.180C>A	XP_005250490.1:p.Thr60=
XR_242246.3:n.2025C>A
XM_017012319.2:c.180C>A	XP_016867808.1:p.Thr60=
XR_001744808.2:n.956C>A
XR_242246.5:n.1976C>A
NM_000466.3:c.1929C>A MANE Select	NP_000457.1:p.Thr643=
NM_001282677.2:c.1900+1374C>A	NP_001269606.1:n.1900+1374C>A
NM_001282678.2:c.1305C>A	NP_001269607.1:p.Thr435=