Canonical Allele Identifier: CA394113133

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681858A>C , CM000678.2:g.681858A>C GRCh38
NC_000016.9:g.731858A>C , CM000678.1:g.731858A>C GRCh37
NC_000016.8:g.671859A>C NCBI36
NG_034141.1:g.6748A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.590A>C (STUB1) MANE Select ENSP00000219548.4:p.Gln197Pro
ENST00000609261.6:c.*936T>G (JMJD8) MANE Select ENSP00000477481.1:n.*936T>G
ENST00000219548.8:c.590A>C (STUB1) ENSP00000219548.4:p.Gln197Pro
ENST00000412368.6:c.*936T>G (JMJD8) ENSP00000399475.2:n.*936T>G
ENST00000563505.5:n.686A>C (STUB1)
ENST00000564316.1:c.189A>C (STUB1)
ENST00000564370.5:c.374A>C (STUB1) ENSP00000456875.1:p.Gln125Pro
ENST00000565302.5:n.1815T>G (JMJD8)
ENST00000565677.5:c.374A>C (STUB1) ENSP00000457228.1:p.Gln125Pro
ENST00000566181.2:n.359A>C (STUB1)
ENST00000566408.5:c.307A>C (STUB1)
ENST00000567120.5:n.2018T>G (JMJD8)
ENST00000567173.5:c.533A>C (STUB1) ENSP00000456591.1:p.Gln178Pro
ENST00000568689.5:n.1839T>G (JMJD8)
ENST00000569248.5:n.1164A>C (STUB1)
ENST00000609261.5:c.*936T>G (JMJD8) ENSP00000477481.1:n.*936T>G
ENST00000620831.4:c.-50+38555A>C (MSLN) ENSP00000482893.1:n.-50+38555A>C
NM_001005920.2:c.*936T>G (JMJD8) NP_001005920.2:n.*936T>G
NM_001293197.1:c.374A>C (STUB1) NP_001280126.1:p.Gln125Pro
NM_005861.3:c.590A>C (STUB1) NP_005852.2:p.Gln197Pro
XM_005255295.3:c.*970T>G (JMJD8) XP_005255352.1:n.*970T>G
XM_005255297.3:c.*936T>G (JMJD8) XP_005255354.1:n.*936T>G
XM_011522474.1:c.*936T>G (JMJD8) XP_011520776.1:n.*936T>G
NM_001005920.3:c.*936T>G (JMJD8) NP_001005920.3:n.*936T>G
NM_001323918.2:c.*970T>G (JMJD8) NP_001310847.2:n.*970T>G
NM_001323919.2:c.*936T>G (JMJD8) NP_001310848.2:n.*936T>G
NM_001323920.2:c.*936T>G (JMJD8) NP_001310849.2:n.*936T>G
NM_001323922.2:c.*970T>G (JMJD8) NP_001310851.2:n.*970T>G
NR_136650.2:n.1829T>G (JMJD8)
NR_136651.2:n.1834T>G (JMJD8)
NR_136652.2:n.1744T>G (JMJD8)
NM_001005920.4:c.*936T>G (JMJD8) MANE Select NP_001005920.3:n.*936T>G
NM_005861.4:c.590A>C (STUB1) MANE Select NP_005852.2:p.Gln197Pro
NM_001293197.2:c.374A>C (STUB1) NP_001280126.1:p.Gln125Pro
NM_001323918.3:c.*970T>G (JMJD8) NP_001310847.2:n.*970T>G
NM_001323919.3:c.*936T>G (JMJD8) NP_001310848.2:n.*936T>G
NM_001323920.3:c.*936T>G (JMJD8) NP_001310849.2:n.*936T>G
NM_001323922.3:c.*970T>G (JMJD8) NP_001310851.2:n.*970T>G
NR_136650.3:n.1829T>G (JMJD8)
NR_136651.3:n.1834T>G (JMJD8)
NR_136652.3:n.1744T>G (JMJD8)