Canonical Allele Identifier: CA161963532

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1583727
• ClinVar RCV Id: RCV002099957 ; RCV003458126
• dbSNP Id: rs201308230
• gnomAD v4: 7-92503062-T-C
• MyVariant Identifiers: chr7:g.92132376T>C (hg19) ; chr7:g.92503062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503062T>C , CM000669.2:g.92503062T>C	GRCh38
NC_000007.13:g.92132376T>C , CM000669.1:g.92132376T>C	GRCh37
NC_000007.12:g.91970312T>C	NCBI36
NG_008341.1:g.30470A>G
NG_008341.2:g.30470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2205A>G MANE Select	ENSP00000248633.4:p.Gln735=
ENST00000248633.8:c.2205A>G	ENSP00000248633.4:p.Gln735=
ENST00000428214.5:c.2034A>G	ENSP00000394413.1:p.Gln678=
ENST00000438045.5:c.1239A>G	ENSP00000410438.1:p.Gln413=
ENST00000484913.5:n.2244A>G
ENST00000496092.1:n.3A>G
ENST00000496420.5:n.1881A>G
NM_000466.2:c.2205A>G	NP_000457.1:p.Gln735=
NM_001282677.1:c.2034A>G	NP_001269606.1:p.Gln678=
NM_001282678.1:c.1581A>G	NP_001269607.1:p.Gln527=
XM_005250433.3:c.456A>G	XP_005250490.1:p.Gln152=
XR_242246.3:n.2301A>G
XM_017012319.2:c.456A>G	XP_016867808.1:p.Gln152=
XR_001744808.2:n.1232A>G
XR_242246.5:n.2252A>G
NM_000466.3:c.2205A>G MANE Select	NP_000457.1:p.Gln735=
NM_001282677.2:c.2034A>G	NP_001269606.1:p.Gln678=
NM_001282678.2:c.1581A>G	NP_001269607.1:p.Gln527=