Canonical Allele Identifier: CA368185105
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506308T>C , CM000669.2:g.92506308T>C GRCh38
NC_000007.13:g.92135622T>C , CM000669.1:g.92135622T>C GRCh37
NC_000007.12:g.91973558T>C NCBI36
NG_008341.1:g.27224A>G
NG_008341.2:g.27224A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1840A>G MANE Select ENSP00000248633.4:p.Lys614Glu
ENST00000248633.8:c.1840A>G ENSP00000248633.4:p.Lys614Glu
ENST00000422866.1:c.658A>G
ENST00000428214.5:c.1840A>G ENSP00000394413.1:p.Lys614Glu
ENST00000438045.5:c.874A>G ENSP00000410438.1:p.Lys292Glu
ENST00000484913.5:n.1879A>G
ENST00000496420.5:n.1516A>G
NM_000466.2:c.1840A>G NP_000457.1:p.Lys614Glu
NM_001282677.1:c.1840A>G NP_001269606.1:p.Lys614Glu
NM_001282678.1:c.1216A>G NP_001269607.1:p.Lys406Glu
XM_005250433.3:c.91A>G XP_005250490.1:p.Lys31Glu
XR_242246.3:n.1936A>G
XM_017012319.2:c.91A>G XP_016867808.1:p.Lys31Glu
XR_001744808.2:n.867A>G
XR_242246.5:n.1887A>G
NM_000466.3:c.1840A>G MANE Select NP_000457.1:p.Lys614Glu
NM_001282677.2:c.1840A>G NP_001269606.1:p.Lys614Glu
NM_001282678.2:c.1216A>G NP_001269607.1:p.Lys406Glu