Canonical Allele Identifier: CA368202873

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519002-T-C
• MyVariant Identifiers: chr7:g.92148316T>C (hg19) ; chr7:g.92519002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519002T>C , CM000669.2:g.92519002T>C	GRCh38
NC_000007.13:g.92148316T>C , CM000669.1:g.92148316T>C	GRCh37
NC_000007.12:g.91986252T>C	NCBI36
NG_008341.1:g.14530A>G
NG_008341.2:g.14530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.350A>G MANE Select	ENSP00000248633.4:p.Glu117Gly
ENST00000248633.8:c.350A>G	ENSP00000248633.4:p.Glu117Gly
ENST00000428214.5:c.350A>G	ENSP00000394413.1:p.Glu117Gly
ENST00000438045.5:c.273+3100A>G	ENSP00000410438.1:n.273+3100A>G
ENST00000484913.5:n.354A>G
NM_000466.2:c.350A>G	NP_000457.1:p.Glu117Gly
NM_001282677.1:c.350A>G	NP_001269606.1:p.Glu117Gly
NM_001282678.1:c.-310A>G	NP_001269607.1:n.-310A>G
XR_242246.3:n.446A>G
XR_242246.5:n.397A>G
NM_000466.3:c.350A>G MANE Select	NP_000457.1:p.Glu117Gly
NM_001282677.2:c.350A>G	NP_001269606.1:p.Glu117Gly
NM_001282678.2:c.-310A>G	NP_001269607.1:n.-310A>G