Canonical Allele Identifier: CA394112970

Gene: STUB1 JMJD8 MSLN

Linked Data

• dbSNP Id: rs2039668507
• gnomAD v4: 16-681827-G-T
• MyVariant Identifiers: chr16:g.731827G>T (hg19) ; chr16:g.681827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681827G>T , CM000678.2:g.681827G>T	GRCh38
NC_000016.9:g.731827G>T , CM000678.1:g.731827G>T	GRCh37
NC_000016.8:g.671828G>T	NCBI36
NG_034141.1:g.6717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.559G>T (STUB1) MANE Select	ENSP00000219548.4:p.Asp187Tyr
ENST00000609261.6:c.*967C>A (JMJD8) MANE Select	ENSP00000477481.1:n.*967C>A
ENST00000219548.8:c.559G>T (STUB1)	ENSP00000219548.4:p.Asp187Tyr
ENST00000412368.6:c.*967C>A (JMJD8)	ENSP00000399475.2:n.*967C>A
ENST00000563505.5:n.655G>T (STUB1)
ENST00000564316.1:c.158G>T (STUB1)
ENST00000564370.5:c.343G>T (STUB1)	ENSP00000456875.1:p.Asp115Tyr
ENST00000565302.5:n.1846C>A (JMJD8)
ENST00000565677.5:c.343G>T (STUB1)	ENSP00000457228.1:p.Asp115Tyr
ENST00000566181.2:n.328G>T (STUB1)
ENST00000566408.5:c.276G>T (STUB1)
ENST00000567120.5:n.2049C>A (JMJD8)
ENST00000567173.5:c.502G>T (STUB1)	ENSP00000456591.1:p.Asp168Tyr
ENST00000568689.5:n.1870C>A (JMJD8)
ENST00000569248.5:n.1133G>T (STUB1)
ENST00000609261.5:c.*967C>A (JMJD8)	ENSP00000477481.1:n.*967C>A
ENST00000620831.4:c.-50+38524G>T (MSLN)	ENSP00000482893.1:n.-50+38524G>T
NM_001005920.2:c.*967C>A (JMJD8)	NP_001005920.2:n.*967C>A
NM_001293197.1:c.343G>T (STUB1)	NP_001280126.1:p.Asp115Tyr
NM_005861.3:c.559G>T (STUB1)	NP_005852.2:p.Asp187Tyr
XM_005255295.3:c.*1001C>A (JMJD8)	XP_005255352.1:n.*1001C>A
XM_005255297.3:c.*967C>A (JMJD8)	XP_005255354.1:n.*967C>A
XM_011522474.1:c.*967C>A (JMJD8)	XP_011520776.1:n.*967C>A
NM_001005920.3:c.*967C>A (JMJD8)	NP_001005920.3:n.*967C>A
NM_001323918.2:c.*1001C>A (JMJD8)	NP_001310847.2:n.*1001C>A
NM_001323919.2:c.*967C>A (JMJD8)	NP_001310848.2:n.*967C>A
NM_001323920.2:c.*967C>A (JMJD8)	NP_001310849.2:n.*967C>A
NM_001323922.2:c.*1001C>A (JMJD8)	NP_001310851.2:n.*1001C>A
NR_136650.2:n.1860C>A (JMJD8)
NR_136651.2:n.1865C>A (JMJD8)
NR_136652.2:n.1775C>A (JMJD8)
NM_001005920.4:c.*967C>A (JMJD8) MANE Select	NP_001005920.3:n.*967C>A
NM_005861.4:c.559G>T (STUB1) MANE Select	NP_005852.2:p.Asp187Tyr
NM_001293197.2:c.343G>T (STUB1)	NP_001280126.1:p.Asp115Tyr
NM_001323918.3:c.*1001C>A (JMJD8)	NP_001310847.2:n.*1001C>A
NM_001323919.3:c.*967C>A (JMJD8)	NP_001310848.2:n.*967C>A
NM_001323920.3:c.*967C>A (JMJD8)	NP_001310849.2:n.*967C>A
NM_001323922.3:c.*1001C>A (JMJD8)	NP_001310851.2:n.*1001C>A
NR_136650.3:n.1860C>A (JMJD8)
NR_136651.3:n.1865C>A (JMJD8)
NR_136652.3:n.1775C>A (JMJD8)