Canonical Allele Identifier: CA456483407

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1562837
• ClinVar RCV Id: RCV002206684
• dbSNP Id: rs1168758164
• gnomAD v2: 7-92134187-G-A
• gnomAD v4: 7-92504873-G-A
• MyVariant Identifiers: chr7:g.92134187G>A (hg19) ; chr7:g.92504873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504873G>A , CM000669.2:g.92504873G>A	GRCh38
NC_000007.13:g.92134187G>A , CM000669.1:g.92134187G>A	GRCh37
NC_000007.12:g.91972123G>A	NCBI36
NG_008341.1:g.28659C>T
NG_008341.2:g.28659C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1930C>T MANE Select	ENSP00000248633.4:p.Leu644=
ENST00000248633.8:c.1930C>T	ENSP00000248633.4:p.Leu644=
ENST00000428214.5:c.1900+1375C>T	ENSP00000394413.1:n.1900+1375C>T
ENST00000438045.5:c.964C>T	ENSP00000410438.1:p.Leu322=
ENST00000484913.5:n.1969C>T
ENST00000496420.5:n.1606C>T
NM_000466.2:c.1930C>T	NP_000457.1:p.Leu644=
NM_001282677.1:c.1900+1375C>T	NP_001269606.1:n.1900+1375C>T
NM_001282678.1:c.1306C>T	NP_001269607.1:p.Leu436=
XM_005250433.3:c.181C>T	XP_005250490.1:p.Leu61=
XR_242246.3:n.2026C>T
XM_017012319.2:c.181C>T	XP_016867808.1:p.Leu61=
XR_001744808.2:n.957C>T
XR_242246.5:n.1977C>T
NM_000466.3:c.1930C>T MANE Select	NP_000457.1:p.Leu644=
NM_001282677.2:c.1900+1375C>T	NP_001269606.1:n.1900+1375C>T
NM_001282678.2:c.1306C>T	NP_001269607.1:p.Leu436=