Canonical Allele Identifier: CA4341676

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1046878
• ClinVar RCV Id: RCV001351496
• dbSNP Id: rs758309091
• ExAC: 7:92151555 T / C
• gnomAD v2: 7-92151555-T-C
• gnomAD v4: 7-92522241-T-C
• MyVariant Identifiers: chr7:g.92151555T>C (hg19) ; chr7:g.92522241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522241T>C , CM000669.2:g.92522241T>C	GRCh38
NC_000007.13:g.92151555T>C , CM000669.1:g.92151555T>C	GRCh37
NC_000007.12:g.91989491T>C	NCBI36
NG_008341.1:g.11291A>G
NG_008341.2:g.11291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.134A>G MANE Select	ENSP00000248633.4:p.Gln45Arg
ENST00000248633.8:c.134A>G	ENSP00000248633.4:p.Gln45Arg
ENST00000428214.5:c.134A>G	ENSP00000394413.1:p.Gln45Arg
ENST00000438045.5:c.134A>G	ENSP00000410438.1:p.Gln45Arg
ENST00000484913.5:n.138A>G
NM_000466.2:c.134A>G	NP_000457.1:p.Gln45Arg
NM_001282677.1:c.134A>G	NP_001269606.1:p.Gln45Arg
NM_001282678.1:c.-526A>G	NP_001269607.1:n.-526A>G
XR_242246.3:n.230A>G
XR_242246.5:n.181A>G
NM_000466.3:c.134A>G MANE Select	NP_000457.1:p.Gln45Arg
NM_001282677.2:c.134A>G	NP_001269606.1:p.Gln45Arg
NM_001282678.2:c.-526A>G	NP_001269607.1:n.-526A>G