Canonical Allele Identifier: CA4341711

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371746
• ClinVar RCV Id: RCV000410262 ; RCV000412294 ; RCV001250203 ; RCV001174676 ; RCV001232745
• dbSNP Id: rs766020928
• ExAC: 7:92157748 A / G
• gnomAD v2: 7-92157748-A-G
• gnomAD v3: 7-92528434-A-G
• gnomAD v4: 7-92528434-A-G
• MyVariant Identifiers: chr7:g.92157748A>G (hg19) ; chr7:g.92528434A>G (hg38)
• PubMed: PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92528434A>G , CM000669.2:g.92528434A>G	GRCh38
NC_000007.13:g.92157748A>G , CM000669.1:g.92157748A>G	GRCh37
NC_000007.12:g.91995684A>G	NCBI36
NG_008341.1:g.5098T>C
NG_008341.2:g.5098T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2T>C MANE Select	ENSP00000248633.4:p.Met1Thr
ENST00000248633.8:c.2T>C	ENSP00000248633.4:p.Met1Thr
ENST00000428214.5:c.2T>C	ENSP00000394413.1:p.Met1Thr
ENST00000438045.5:c.2T>C	ENSP00000410438.1:p.Met1Thr
ENST00000484913.5:n.6T>C
NM_000466.2:c.2T>C	NP_000457.1:p.Met1Thr
NM_001282677.1:c.2T>C	NP_001269606.1:p.Met1Thr
NM_001282678.1:c.-658T>C	NP_001269607.1:n.-658T>C
XR_242246.3:n.98T>C
XR_242246.5:n.49T>C
NM_000466.3:c.2T>C MANE Select	NP_000457.1:p.Met1Thr
NM_001282677.2:c.2T>C	NP_001269606.1:p.Met1Thr
NM_001282678.2:c.-658T>C	NP_001269607.1:n.-658T>C