Canonical Allele Identifier: CA368183118
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504773T>C , CM000669.2:g.92504773T>C GRCh38
NC_000007.13:g.92134087T>C , CM000669.1:g.92134087T>C GRCh37
NC_000007.12:g.91972023T>C NCBI36
NG_008341.1:g.28759A>G
NG_008341.2:g.28759A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2030A>G MANE Select ENSP00000248633.4:p.Glu677Gly
ENST00000248633.8:c.2030A>G ENSP00000248633.4:p.Glu677Gly
ENST00000428214.5:c.1900+1475A>G ENSP00000394413.1:n.1900+1475A>G
ENST00000438045.5:c.1064A>G ENSP00000410438.1:p.Glu355Gly
ENST00000484913.5:n.2069A>G
ENST00000496420.5:n.1706A>G
NM_000466.2:c.2030A>G NP_000457.1:p.Glu677Gly
NM_001282677.1:c.1900+1475A>G NP_001269606.1:n.1900+1475A>G
NM_001282678.1:c.1406A>G NP_001269607.1:p.Glu469Gly
XM_005250433.3:c.281A>G XP_005250490.1:p.Glu94Gly
XR_242246.3:n.2126A>G
XM_017012319.2:c.281A>G XP_016867808.1:p.Glu94Gly
XR_001744808.2:n.1057A>G
XR_242246.5:n.2077A>G
NM_000466.3:c.2030A>G MANE Select NP_000457.1:p.Glu677Gly
NM_001282677.2:c.1900+1475A>G NP_001269606.1:n.1900+1475A>G
NM_001282678.2:c.1406A>G NP_001269607.1:p.Glu469Gly