Canonical Allele Identifier: CA456483478

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2165991
• ClinVar RCV Id: RCV003084651
• gnomAD v4: 7-92506279-A-G
• MyVariant Identifiers: chr7:g.92135593A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506279A>G , CM000669.2:g.92506279A>G	GRCh38
NC_000007.13:g.92135593A>G , CM000669.1:g.92135593A>G	GRCh37
NC_000007.12:g.91973529A>G	NCBI36
NG_008341.1:g.27253T>C
NG_008341.2:g.27253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1869T>C MANE Select	ENSP00000248633.4:p.His623=
ENST00000248633.8:c.1869T>C	ENSP00000248633.4:p.His623=
ENST00000422866.1:c.687T>C
ENST00000428214.5:c.1869T>C	ENSP00000394413.1:p.His623=
ENST00000438045.5:c.903T>C	ENSP00000410438.1:p.His301=
ENST00000484913.5:n.1908T>C
ENST00000496420.5:n.1545T>C
NM_000466.2:c.1869T>C	NP_000457.1:p.His623=
NM_001282677.1:c.1869T>C	NP_001269606.1:p.His623=
NM_001282678.1:c.1245T>C	NP_001269607.1:p.His415=
XM_005250433.3:c.120T>C	XP_005250490.1:p.His40=
XR_242246.3:n.1965T>C
XM_017012319.2:c.120T>C	XP_016867808.1:p.His40=
XR_001744808.2:n.896T>C
XR_242246.5:n.1916T>C
NM_000466.3:c.1869T>C MANE Select	NP_000457.1:p.His623=
NM_001282677.2:c.1869T>C	NP_001269606.1:p.His623=
NM_001282678.2:c.1245T>C	NP_001269607.1:p.His415=