Canonical Allele Identifier: CA493008516

Linked Data

MyVariant Identifiers: chr16:g.731814A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681814A>G , CM000678.2:g.681814A>G GRCh38
NC_000016.9:g.731814A>G , CM000678.1:g.731814A>G GRCh37
NC_000016.8:g.671815A>G NCBI36
NG_034141.1:g.6704A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.546A>G (STUB1) MANE Select ENSP00000219548.4:p.Arg182=
ENST00000609261.6:c.*980T>C (JMJD8) MANE Select ENSP00000477481.1:n.*980T>C
ENST00000219548.8:c.546A>G (STUB1) ENSP00000219548.4:p.Arg182=
ENST00000412368.6:c.*980T>C (JMJD8) ENSP00000399475.2:n.*980T>C
ENST00000563505.5:n.642A>G (STUB1)
ENST00000564316.1:c.145A>G (STUB1)
ENST00000564370.5:c.330A>G (STUB1) ENSP00000456875.1:p.Arg110=
ENST00000565302.5:n.1859T>C (JMJD8)
ENST00000565677.5:c.330A>G (STUB1) ENSP00000457228.1:p.Arg110=
ENST00000566181.2:n.315A>G (STUB1)
ENST00000566408.5:c.263A>G (STUB1)
ENST00000567120.5:n.2062T>C (JMJD8)
ENST00000567173.5:c.489A>G (STUB1) ENSP00000456591.1:p.Arg163=
ENST00000568689.5:n.1883T>C (JMJD8)
ENST00000569248.5:n.1120A>G (STUB1)
ENST00000609261.5:c.*980T>C (JMJD8) ENSP00000477481.1:n.*980T>C
ENST00000620831.4:c.-50+38511A>G (MSLN) ENSP00000482893.1:n.-50+38511A>G
NM_001005920.2:c.*980T>C (JMJD8) NP_001005920.2:n.*980T>C
NM_001293197.1:c.330A>G (STUB1) NP_001280126.1:p.Arg110=
NM_005861.3:c.546A>G (STUB1) NP_005852.2:p.Arg182=
XM_005255295.3:c.*1014T>C (JMJD8) XP_005255352.1:n.*1014T>C
XM_005255297.3:c.*980T>C (JMJD8) XP_005255354.1:n.*980T>C
XM_011522474.1:c.*980T>C (JMJD8) XP_011520776.1:n.*980T>C
NM_001005920.3:c.*980T>C (JMJD8) NP_001005920.3:n.*980T>C
NM_001323918.2:c.*1014T>C (JMJD8) NP_001310847.2:n.*1014T>C
NM_001323919.2:c.*980T>C (JMJD8) NP_001310848.2:n.*980T>C
NM_001323920.2:c.*980T>C (JMJD8) NP_001310849.2:n.*980T>C
NM_001323922.2:c.*1014T>C (JMJD8) NP_001310851.2:n.*1014T>C
NR_136650.2:n.1873T>C (JMJD8)
NR_136651.2:n.1878T>C (JMJD8)
NR_136652.2:n.1788T>C (JMJD8)
NM_001005920.4:c.*980T>C (JMJD8) MANE Select NP_001005920.3:n.*980T>C
NM_005861.4:c.546A>G (STUB1) MANE Select NP_005852.2:p.Arg182=
NM_001293197.2:c.330A>G (STUB1) NP_001280126.1:p.Arg110=
NM_001323918.3:c.*1014T>C (JMJD8) NP_001310847.2:n.*1014T>C
NM_001323919.3:c.*980T>C (JMJD8) NP_001310848.2:n.*980T>C
NM_001323920.3:c.*980T>C (JMJD8) NP_001310849.2:n.*980T>C
NM_001323922.3:c.*1014T>C (JMJD8) NP_001310851.2:n.*1014T>C
NR_136650.3:n.1873T>C (JMJD8)
NR_136651.3:n.1878T>C (JMJD8)
NR_136652.3:n.1788T>C (JMJD8)