Canonical Allele Identifier: CA161966149

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1091950
• ClinVar RCV Id: RCV001411592
• dbSNP Id: rs750015247
• gnomAD v2: 7-92136365-C-T
• gnomAD v3: 7-92507051-C-T
• gnomAD v4: 7-92507051-C-T
• MyVariant Identifiers: chr7:g.92136365C>T (hg19) ; chr7:g.92507051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507051C>T , CM000669.2:g.92507051C>T	GRCh38
NC_000007.13:g.92136365C>T , CM000669.1:g.92136365C>T	GRCh37
NC_000007.12:g.91974301C>T	NCBI36
NG_008341.1:g.26481G>A
NG_008341.2:g.26481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1746G>A MANE Select	ENSP00000248633.4:p.Gln582=
ENST00000248633.8:c.1746G>A	ENSP00000248633.4:p.Gln582=
ENST00000422866.1:c.564G>A
ENST00000428214.5:c.1746G>A	ENSP00000394413.1:p.Gln582=
ENST00000438045.5:c.780G>A	ENSP00000410438.1:p.Gln260=
ENST00000484913.5:n.1785G>A
ENST00000496420.5:n.773G>A
NM_000466.2:c.1746G>A	NP_000457.1:p.Gln582=
NM_001282677.1:c.1746G>A	NP_001269606.1:p.Gln582=
NM_001282678.1:c.1122G>A	NP_001269607.1:p.Gln374=
XM_005250433.3:c.-4G>A	XP_005250490.1:n.-4G>A
XR_242246.3:n.1842G>A
XM_017012319.2:c.-4G>A	XP_016867808.1:n.-4G>A
XR_001744808.2:n.773G>A
XR_242246.5:n.1793G>A
NM_000466.3:c.1746G>A MANE Select	NP_000457.1:p.Gln582=
NM_001282677.2:c.1746G>A	NP_001269606.1:p.Gln582=
NM_001282678.2:c.1122G>A	NP_001269607.1:p.Gln374=