Canonical Allele Identifier: CA394112820

Gene: STUB1 JMJD8 MSLN

Linked Data

• gnomAD v4: 16-681800-G-A
• MyVariant Identifiers: chr16:g.731800G>A (hg19) ; chr16:g.681800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681800G>A , CM000678.2:g.681800G>A	GRCh38
NC_000016.9:g.731800G>A , CM000678.1:g.731800G>A	GRCh37
NC_000016.8:g.671801G>A	NCBI36
NG_034141.1:g.6690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.532G>A (STUB1) MANE Select	ENSP00000219548.4:p.Glu178Lys
ENST00000609261.6:c.*994C>T (JMJD8) MANE Select	ENSP00000477481.1:n.*994C>T
ENST00000219548.8:c.532G>A (STUB1)	ENSP00000219548.4:p.Glu178Lys
ENST00000412368.6:c.*994C>T (JMJD8)	ENSP00000399475.2:n.*994C>T
ENST00000563505.5:n.628G>A (STUB1)
ENST00000564316.1:c.131G>A (STUB1)
ENST00000564370.5:c.316G>A (STUB1)	ENSP00000456875.1:p.Glu106Lys
ENST00000565302.5:n.1873C>T (JMJD8)
ENST00000565677.5:c.316G>A (STUB1)	ENSP00000457228.1:p.Glu106Lys
ENST00000566181.2:n.301G>A (STUB1)
ENST00000566408.5:c.249G>A (STUB1)
ENST00000567120.5:n.2076C>T (JMJD8)
ENST00000567173.5:c.475G>A (STUB1)	ENSP00000456591.1:p.Glu159Lys
ENST00000568689.5:n.1897C>T (JMJD8)
ENST00000569248.5:n.1106G>A (STUB1)
ENST00000609261.5:c.*994C>T (JMJD8)	ENSP00000477481.1:n.*994C>T
ENST00000620831.4:c.-50+38497G>A (MSLN)	ENSP00000482893.1:n.-50+38497G>A
NM_001005920.2:c.*994C>T (JMJD8)	NP_001005920.2:n.*994C>T
NM_001293197.1:c.316G>A (STUB1)	NP_001280126.1:p.Glu106Lys
NM_005861.3:c.532G>A (STUB1)	NP_005852.2:p.Glu178Lys
XM_005255295.3:c.*1028C>T (JMJD8)	XP_005255352.1:n.*1028C>T
XM_005255297.3:c.*994C>T (JMJD8)	XP_005255354.1:n.*994C>T
XM_011522474.1:c.*994C>T (JMJD8)	XP_011520776.1:n.*994C>T
NM_001005920.3:c.*994C>T (JMJD8)	NP_001005920.3:n.*994C>T
NM_001323918.2:c.*1028C>T (JMJD8)	NP_001310847.2:n.*1028C>T
NM_001323919.2:c.*994C>T (JMJD8)	NP_001310848.2:n.*994C>T
NM_001323920.2:c.*994C>T (JMJD8)	NP_001310849.2:n.*994C>T
NM_001323922.2:c.*1028C>T (JMJD8)	NP_001310851.2:n.*1028C>T
NR_136650.2:n.1887C>T (JMJD8)
NR_136651.2:n.1892C>T (JMJD8)
NR_136652.2:n.1802C>T (JMJD8)
NM_001005920.4:c.*994C>T (JMJD8) MANE Select	NP_001005920.3:n.*994C>T
NM_005861.4:c.532G>A (STUB1) MANE Select	NP_005852.2:p.Glu178Lys
NM_001293197.2:c.316G>A (STUB1)	NP_001280126.1:p.Glu106Lys
NM_001323918.3:c.*1028C>T (JMJD8)	NP_001310847.2:n.*1028C>T
NM_001323919.3:c.*994C>T (JMJD8)	NP_001310848.2:n.*994C>T
NM_001323920.3:c.*994C>T (JMJD8)	NP_001310849.2:n.*994C>T
NM_001323922.3:c.*1028C>T (JMJD8)	NP_001310851.2:n.*1028C>T
NR_136650.3:n.1887C>T (JMJD8)
NR_136651.3:n.1892C>T (JMJD8)
NR_136652.3:n.1802C>T (JMJD8)