Canonical Allele Identifier: CA368200442
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517822G>C , CM000669.2:g.92517822G>C GRCh38
NC_000007.13:g.92147136G>C , CM000669.1:g.92147136G>C GRCh37
NC_000007.12:g.91985072G>C NCBI36
NG_008341.1:g.15710C>G
NG_008341.2:g.15710C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.693C>G MANE Select ENSP00000248633.4:p.Asn231Lys
ENST00000248633.8:c.693C>G ENSP00000248633.4:p.Asn231Lys
ENST00000428214.5:c.693C>G ENSP00000394413.1:p.Asn231Lys
ENST00000438045.5:c.274-3855C>G ENSP00000410438.1:n.274-3855C>G
ENST00000484913.5:n.732C>G
NM_000466.2:c.693C>G NP_000457.1:p.Asn231Lys
NM_001282677.1:c.693C>G NP_001269606.1:p.Asn231Lys
NM_001282678.1:c.69C>G NP_001269607.1:p.Asn23Lys
XR_242246.3:n.789C>G
XR_242246.5:n.740C>G
NM_000466.3:c.693C>G MANE Select NP_000457.1:p.Asn231Lys
NM_001282677.2:c.693C>G NP_001269606.1:p.Asn231Lys
NM_001282678.2:c.69C>G NP_001269607.1:p.Asn23Lys