Canonical Allele Identifier: CA7786651

Gene: STUB1 JMJD8 MSLN

Linked Data

• dbSNP Id: rs764534080
• ExAC: 16:731803 G / C
• gnomAD v2: 16-731803-G-C
• gnomAD v4: 16-681803-G-C
• COSMIC: COSM1302238
• MyVariant Identifiers: chr16:g.731803G>C (hg19) ; chr16:g.681803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681803G>C , CM000678.2:g.681803G>C	GRCh38
NC_000016.9:g.731803G>C , CM000678.1:g.731803G>C	GRCh37
NC_000016.8:g.671804G>C	NCBI36
NG_034141.1:g.6693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.535G>C (STUB1) MANE Select	ENSP00000219548.4:p.Glu179Gln
ENST00000609261.6:c.*991C>G (JMJD8) MANE Select	ENSP00000477481.1:n.*991C>G
ENST00000219548.8:c.535G>C (STUB1)	ENSP00000219548.4:p.Glu179Gln
ENST00000412368.6:c.*991C>G (JMJD8)	ENSP00000399475.2:n.*991C>G
ENST00000563505.5:n.631G>C (STUB1)
ENST00000564316.1:c.134G>C (STUB1)
ENST00000564370.5:c.319G>C (STUB1)	ENSP00000456875.1:p.Glu107Gln
ENST00000565302.5:n.1870C>G (JMJD8)
ENST00000565677.5:c.319G>C (STUB1)	ENSP00000457228.1:p.Glu107Gln
ENST00000566181.2:n.304G>C (STUB1)
ENST00000566408.5:c.252G>C (STUB1)
ENST00000567120.5:n.2073C>G (JMJD8)
ENST00000567173.5:c.478G>C (STUB1)	ENSP00000456591.1:p.Glu160Gln
ENST00000568689.5:n.1894C>G (JMJD8)
ENST00000569248.5:n.1109G>C (STUB1)
ENST00000609261.5:c.*991C>G (JMJD8)	ENSP00000477481.1:n.*991C>G
ENST00000620831.4:c.-50+38500G>C (MSLN)	ENSP00000482893.1:n.-50+38500G>C
NM_001005920.2:c.*991C>G (JMJD8)	NP_001005920.2:n.*991C>G
NM_001293197.1:c.319G>C (STUB1)	NP_001280126.1:p.Glu107Gln
NM_005861.3:c.535G>C (STUB1)	NP_005852.2:p.Glu179Gln
XM_005255295.3:c.*1025C>G (JMJD8)	XP_005255352.1:n.*1025C>G
XM_005255297.3:c.*991C>G (JMJD8)	XP_005255354.1:n.*991C>G
XM_011522474.1:c.*991C>G (JMJD8)	XP_011520776.1:n.*991C>G
NM_001005920.3:c.*991C>G (JMJD8)	NP_001005920.3:n.*991C>G
NM_001323918.2:c.*1025C>G (JMJD8)	NP_001310847.2:n.*1025C>G
NM_001323919.2:c.*991C>G (JMJD8)	NP_001310848.2:n.*991C>G
NM_001323920.2:c.*991C>G (JMJD8)	NP_001310849.2:n.*991C>G
NM_001323922.2:c.*1025C>G (JMJD8)	NP_001310851.2:n.*1025C>G
NR_136650.2:n.1884C>G (JMJD8)
NR_136651.2:n.1889C>G (JMJD8)
NR_136652.2:n.1799C>G (JMJD8)
NM_001005920.4:c.*991C>G (JMJD8) MANE Select	NP_001005920.3:n.*991C>G
NM_005861.4:c.535G>C (STUB1) MANE Select	NP_005852.2:p.Glu179Gln
NM_001293197.2:c.319G>C (STUB1)	NP_001280126.1:p.Glu107Gln
NM_001323918.3:c.*1025C>G (JMJD8)	NP_001310847.2:n.*1025C>G
NM_001323919.3:c.*991C>G (JMJD8)	NP_001310848.2:n.*991C>G
NM_001323920.3:c.*991C>G (JMJD8)	NP_001310849.2:n.*991C>G
NM_001323922.3:c.*1025C>G (JMJD8)	NP_001310851.2:n.*1025C>G
NR_136650.3:n.1884C>G (JMJD8)
NR_136651.3:n.1889C>G (JMJD8)
NR_136652.3:n.1799C>G (JMJD8)