Canonical Allele Identifier: CA154229
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 129882
dbSNP Id: rs35996821

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503179T>C , CM000669.2:g.92503179T>C GRCh38
NC_000007.13:g.92132493T>C , CM000669.1:g.92132493T>C GRCh37
NC_000007.12:g.91970429T>C NCBI36
NG_008341.1:g.30353A>G
NG_008341.2:g.30353A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2088A>G MANE Select ENSP00000248633.4:p.Ile696Met
ENST00000248633.8:c.2088A>G ENSP00000248633.4:p.Ile696Met
ENST00000428214.5:n.1917A>G ENSP00000394413.1:p.Ile639Met
ENST00000438045.5:c.1122A>G ENSP00000410438.1:p.Ile374Met
ENST00000484913.5:n.2127A>G
ENST00000496420.5:n.1764A>G
NM_000466.2:c.2088A>G NP_000457.1:p.Ile696Met
NM_001282677.1:c.1917A>G NP_001269606.1:p.Ile639Met
NM_001282678.1:c.1464A>G NP_001269607.1:p.Ile488Met
XM_005250433.3:c.339A>G XP_005250490.1:p.Ile113Met
XR_242246.3:n.2184A>G
XM_017012319.2:c.339A>G XP_016867808.1:p.Ile113Met
XR_001744808.2:n.1115A>G
XR_242246.5:n.2135A>G
NM_000466.3:c.2088A>G MANE Select NP_000457.1:p.Ile696Met
NM_001282677.2:c.1917A>G NP_001269606.1:p.Ile639Met
NM_001282678.2:c.1464A>G NP_001269607.1:p.Ile488Met