Canonical Allele Identifier: CA2201204720

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681669C= , CM000678.2:g.681669C= GRCh38
NC_000016.9:g.731669C= , CM000678.1:g.731669C= GRCh37
NC_000016.8:g.671670C= NCBI36
NG_034141.1:g.6559C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.524+66C= (STUB1) MANE Select ENSP00000219548.4:n.524+66C=
ENST00000219548.8:c.524+66C= (STUB1) ENSP00000219548.4:n.524+66C=
ENST00000563505.5:n.620+66C= (STUB1)
ENST00000564316.1:c.123+66C= (STUB1)
ENST00000564370.5:c.308+66C= (STUB1) ENSP00000456875.1:n.308+66C=
ENST00000565677.5:c.308+66C= (STUB1) ENSP00000457228.1:n.308+66C=
ENST00000566181.2:n.293+66C= (STUB1)
ENST00000566408.5:c.241+66C= (STUB1)
ENST00000567173.5:c.467+66C= (STUB1) ENSP00000456591.1:n.467+66C=
ENST00000569248.5:n.1098+66C= (STUB1)
ENST00000620831.4:c.-50+38366C= (MSLN) ENSP00000482893.1:n.-50+38366C=
NM_001005920.2:c.*1125G= (JMJD8) NP_001005920.2:n.*1125G=
NM_001293197.1:c.308+66C= (STUB1) NP_001280126.1:n.308+66C=
NM_005861.3:c.524+66C= (STUB1) NP_005852.2:n.524+66C=
XM_005255295.3:c.*1159G= (JMJD8) XP_005255352.1:n.*1159G=
XM_005255297.3:c.*1125G= (JMJD8) XP_005255354.1:n.*1125G=
XM_011522474.1:c.*1125G= (JMJD8) XP_011520776.1:n.*1125G=
NM_001005920.3:c.*1125G= (JMJD8) NP_001005920.3:n.*1125G=
NM_001323918.2:c.*1159G= (JMJD8) NP_001310847.2:n.*1159G=
NM_001323919.2:c.*1125G= (JMJD8) NP_001310848.2:n.*1125G=
NM_001323920.2:c.*1125G= (JMJD8) NP_001310849.2:n.*1125G=
NM_001323922.2:c.*1159G= (JMJD8) NP_001310851.2:n.*1159G=
NR_136650.2:n.2018G= (JMJD8)
NR_136651.2:n.2023G= (JMJD8)
NR_136652.2:n.1933G= (JMJD8)
NM_005861.4:c.524+66C= (STUB1) MANE Select NP_005852.2:n.524+66C=
NM_001293197.2:c.308+66C= (STUB1) NP_001280126.1:n.308+66C=