Canonical Allele Identifier: CA368184143

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2324549
• ClinVar RCV Id: RCV002911624
• gnomAD v4: 7-92504882-G-C
• MyVariant Identifiers: chr7:g.92134196G>C (hg19) ; chr7:g.92504882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504882G>C , CM000669.2:g.92504882G>C	GRCh38
NC_000007.13:g.92134196G>C , CM000669.1:g.92134196G>C	GRCh37
NC_000007.12:g.91972132G>C	NCBI36
NG_008341.1:g.28650C>G
NG_008341.2:g.28650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1921C>G MANE Select	ENSP00000248633.4:p.Gln641Glu
ENST00000248633.8:c.1921C>G	ENSP00000248633.4:p.Gln641Glu
ENST00000428214.5:c.1900+1366C>G	ENSP00000394413.1:n.1900+1366C>G
ENST00000438045.5:c.955C>G	ENSP00000410438.1:p.Gln319Glu
ENST00000484913.5:n.1960C>G
ENST00000496420.5:n.1597C>G
NM_000466.2:c.1921C>G	NP_000457.1:p.Gln641Glu
NM_001282677.1:c.1900+1366C>G	NP_001269606.1:n.1900+1366C>G
NM_001282678.1:c.1297C>G	NP_001269607.1:p.Gln433Glu
XM_005250433.3:c.172C>G	XP_005250490.1:p.Gln58Glu
XR_242246.3:n.2017C>G
XM_017012319.2:c.172C>G	XP_016867808.1:p.Gln58Glu
XR_001744808.2:n.948C>G
XR_242246.5:n.1968C>G
NM_000466.3:c.1921C>G MANE Select	NP_000457.1:p.Gln641Glu
NM_001282677.2:c.1900+1366C>G	NP_001269606.1:n.1900+1366C>G
NM_001282678.2:c.1297C>G	NP_001269607.1:p.Gln433Glu