Canonical Allele Identifier: CA16041177

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371688
• ClinVar RCV Id: RCV000410653 ; RCV000411721 ; RCV002230732
• dbSNP Id: rs766020928
• gnomAD v4: 7-92528434-A-C
• MyVariant Identifiers: chr7:g.92157748A>C (hg19) ; chr7:g.92528434A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2T>G MANE Select	ENSP00000248633.4:p.Met1Arg
ENST00000248633.8:c.2T>G	ENSP00000248633.4:p.Met1Arg
ENST00000428214.5:c.2T>G	ENSP00000394413.1:p.Met1Arg
ENST00000438045.5:c.2T>G	ENSP00000410438.1:p.Met1Arg
ENST00000484913.5:n.6T>G
NM_000466.2:c.2T>G	NP_000457.1:p.Met1Arg
NM_001282677.1:c.2T>G	NP_001269606.1:p.Met1Arg
NM_001282678.1:c.-658T>G	NP_001269607.1:n.-658T>G
XR_242246.3:n.98T>G
XR_242246.5:n.49T>G
NM_000466.3:c.2T>G MANE Select	NP_000457.1:p.Met1Arg
NM_001282677.2:c.2T>G	NP_001269606.1:p.Met1Arg
NM_001282678.2:c.-658T>G	NP_001269607.1:n.-658T>G