Canonical Allele Identifier: CA456483231

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1551678
• ClinVar RCV Id: RCV002192471
• dbSNP Id: rs2116156123
• gnomAD v4: 7-92503173-C-T
• MyVariant Identifiers: chr7:g.92132487C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503173C>T , CM000669.2:g.92503173C>T	GRCh38
NC_000007.13:g.92132487C>T , CM000669.1:g.92132487C>T	GRCh37
NC_000007.12:g.91970423C>T	NCBI36
NG_008341.1:g.30359G>A
NG_008341.2:g.30359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2094G>A MANE Select	ENSP00000248633.4:p.Glu698=
ENST00000248633.8:c.2094G>A	ENSP00000248633.4:p.Glu698=
ENST00000428214.5:c.1923G>A	ENSP00000394413.1:p.Glu641=
ENST00000438045.5:c.1128G>A	ENSP00000410438.1:p.Glu376=
ENST00000484913.5:n.2133G>A
ENST00000496420.5:n.1770G>A
NM_000466.2:c.2094G>A	NP_000457.1:p.Glu698=
NM_001282677.1:c.1923G>A	NP_001269606.1:p.Glu641=
NM_001282678.1:c.1470G>A	NP_001269607.1:p.Glu490=
XM_005250433.3:c.345G>A	XP_005250490.1:p.Glu115=
XR_242246.3:n.2190G>A
XM_017012319.2:c.345G>A	XP_016867808.1:p.Glu115=
XR_001744808.2:n.1121G>A
XR_242246.5:n.2141G>A
NM_000466.3:c.2094G>A MANE Select	NP_000457.1:p.Glu698=
NM_001282677.2:c.1923G>A	NP_001269606.1:p.Glu641=
NM_001282678.2:c.1470G>A	NP_001269607.1:p.Glu490=