Canonical Allele Identifier: CA456483408

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2032834
• ClinVar RCV Id: RCV002881469
• MyVariant Identifiers: chr7:g.92134188G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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