Canonical Allele Identifier: CA368178830
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92502076G>C , CM000669.2:g.92502076G>C GRCh38
NC_000007.13:g.92131390G>C , CM000669.1:g.92131390G>C GRCh37
NC_000007.12:g.91969326G>C NCBI36
NG_008341.1:g.31456C>G
NG_008341.2:g.31456C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2230C>G MANE Select ENSP00000248633.4:p.Gln744Glu
ENST00000248633.8:c.2230C>G ENSP00000248633.4:p.Gln744Glu
ENST00000428214.5:c.2059C>G ENSP00000394413.1:p.Gln687Glu
ENST00000438045.5:c.1264C>G ENSP00000410438.1:p.Gln422Glu
ENST00000484913.5:n.2269C>G
ENST00000496092.1:n.28C>G
ENST00000496420.5:n.1906C>G
NM_000466.2:c.2230C>G NP_000457.1:p.Gln744Glu
NM_001282677.1:c.2059C>G NP_001269606.1:p.Gln687Glu
NM_001282678.1:c.1606C>G NP_001269607.1:p.Gln536Glu
XM_005250433.3:c.481C>G XP_005250490.1:p.Gln161Glu
XR_242246.3:n.2326C>G
XM_017012319.2:c.481C>G XP_016867808.1:p.Gln161Glu
XR_001744808.2:n.1257C>G
XR_242246.5:n.2277C>G
NM_000466.3:c.2230C>G MANE Select NP_000457.1:p.Gln744Glu
NM_001282677.2:c.2059C>G NP_001269606.1:p.Gln687Glu
NM_001282678.2:c.1606C>G NP_001269607.1:p.Gln536Glu