Canonical Allele Identifier: CA7786674

Gene: STUB1 JMJD8 MSLN

Linked Data

• dbSNP Id: rs755698159
• ExAC: 16:731846 T / G
• gnomAD v2: 16-731846-T-G
• gnomAD v4: 16-681846-T-G
• MyVariant Identifiers: chr16:g.731846T>G (hg19) ; chr16:g.681846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681846T>G , CM000678.2:g.681846T>G	GRCh38
NC_000016.9:g.731846T>G , CM000678.1:g.731846T>G	GRCh37
NC_000016.8:g.671847T>G	NCBI36
NG_034141.1:g.6736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.578T>G (STUB1) MANE Select	ENSP00000219548.4:p.Val193Gly
ENST00000609261.6:c.*948A>C (JMJD8) MANE Select	ENSP00000477481.1:n.*948A>C
ENST00000219548.8:c.578T>G (STUB1)	ENSP00000219548.4:p.Val193Gly
ENST00000412368.6:c.*948A>C (JMJD8)	ENSP00000399475.2:n.*948A>C
ENST00000563505.5:n.674T>G (STUB1)
ENST00000564316.1:c.177T>G (STUB1)
ENST00000564370.5:c.362T>G (STUB1)	ENSP00000456875.1:p.Val121Gly
ENST00000565302.5:n.1827A>C (JMJD8)
ENST00000565677.5:c.362T>G (STUB1)	ENSP00000457228.1:p.Val121Gly
ENST00000566181.2:n.347T>G (STUB1)
ENST00000566408.5:c.295T>G (STUB1)
ENST00000567120.5:n.2030A>C (JMJD8)
ENST00000567173.5:c.521T>G (STUB1)	ENSP00000456591.1:p.Val174Gly
ENST00000568689.5:n.1851A>C (JMJD8)
ENST00000569248.5:n.1152T>G (STUB1)
ENST00000609261.5:c.*948A>C (JMJD8)	ENSP00000477481.1:n.*948A>C
ENST00000620831.4:c.-50+38543T>G (MSLN)	ENSP00000482893.1:n.-50+38543T>G
NM_001005920.2:c.*948A>C (JMJD8)	NP_001005920.2:n.*948A>C
NM_001293197.1:c.362T>G (STUB1)	NP_001280126.1:p.Val121Gly
NM_005861.3:c.578T>G (STUB1)	NP_005852.2:p.Val193Gly
XM_005255295.3:c.*982A>C (JMJD8)	XP_005255352.1:n.*982A>C
XM_005255297.3:c.*948A>C (JMJD8)	XP_005255354.1:n.*948A>C
XM_011522474.1:c.*948A>C (JMJD8)	XP_011520776.1:n.*948A>C
NM_001005920.3:c.*948A>C (JMJD8)	NP_001005920.3:n.*948A>C
NM_001323918.2:c.*982A>C (JMJD8)	NP_001310847.2:n.*982A>C
NM_001323919.2:c.*948A>C (JMJD8)	NP_001310848.2:n.*948A>C
NM_001323920.2:c.*948A>C (JMJD8)	NP_001310849.2:n.*948A>C
NM_001323922.2:c.*982A>C (JMJD8)	NP_001310851.2:n.*982A>C
NR_136650.2:n.1841A>C (JMJD8)
NR_136651.2:n.1846A>C (JMJD8)
NR_136652.2:n.1756A>C (JMJD8)
NM_001005920.4:c.*948A>C (JMJD8) MANE Select	NP_001005920.3:n.*948A>C
NM_005861.4:c.578T>G (STUB1) MANE Select	NP_005852.2:p.Val193Gly
NM_001293197.2:c.362T>G (STUB1)	NP_001280126.1:p.Val121Gly
NM_001323918.3:c.*982A>C (JMJD8)	NP_001310847.2:n.*982A>C
NM_001323919.3:c.*948A>C (JMJD8)	NP_001310848.2:n.*948A>C
NM_001323920.3:c.*948A>C (JMJD8)	NP_001310849.2:n.*948A>C
NM_001323922.3:c.*982A>C (JMJD8)	NP_001310851.2:n.*982A>C
NR_136650.3:n.1841A>C (JMJD8)
NR_136651.3:n.1846A>C (JMJD8)
NR_136652.3:n.1756A>C (JMJD8)