Canonical Allele Identifier: CA7786672

Gene: STUB1 JMJD8 MSLN

Linked Data

• ClinVar Variation Id: 2068965
• ClinVar RCV Id: RCV002975235
• dbSNP Id: rs200514887
• ExAC: 16:731845 G / A
• gnomAD v2: 16-731845-G-A
• gnomAD v3: 16-681845-G-A
• gnomAD v4: 16-681845-G-A
• MyVariant Identifiers: chr16:g.731845G>A (hg19) ; chr16:g.681845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681845G>A , CM000678.2:g.681845G>A	GRCh38
NC_000016.9:g.731845G>A , CM000678.1:g.731845G>A	GRCh37
NC_000016.8:g.671846G>A	NCBI36
NG_034141.1:g.6735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.577G>A (STUB1) MANE Select	ENSP00000219548.4:p.Val193Ile
ENST00000609261.6:c.*949C>T (JMJD8) MANE Select	ENSP00000477481.1:n.*949C>T
ENST00000219548.8:c.577G>A (STUB1)	ENSP00000219548.4:p.Val193Ile
ENST00000412368.6:c.*949C>T (JMJD8)	ENSP00000399475.2:n.*949C>T
ENST00000563505.5:n.673G>A (STUB1)
ENST00000564316.1:c.176G>A (STUB1)
ENST00000564370.5:c.361G>A (STUB1)	ENSP00000456875.1:p.Val121Ile
ENST00000565302.5:n.1828C>T (JMJD8)
ENST00000565677.5:c.361G>A (STUB1)	ENSP00000457228.1:p.Val121Ile
ENST00000566181.2:n.346G>A (STUB1)
ENST00000566408.5:c.294G>A (STUB1)
ENST00000567120.5:n.2031C>T (JMJD8)
ENST00000567173.5:c.520G>A (STUB1)	ENSP00000456591.1:p.Val174Ile
ENST00000568689.5:n.1852C>T (JMJD8)
ENST00000569248.5:n.1151G>A (STUB1)
ENST00000609261.5:c.*949C>T (JMJD8)	ENSP00000477481.1:n.*949C>T
ENST00000620831.4:c.-50+38542G>A (MSLN)	ENSP00000482893.1:n.-50+38542G>A
NM_001005920.2:c.*949C>T (JMJD8)	NP_001005920.2:n.*949C>T
NM_001293197.1:c.361G>A (STUB1)	NP_001280126.1:p.Val121Ile
NM_005861.3:c.577G>A (STUB1)	NP_005852.2:p.Val193Ile
XM_005255295.3:c.*983C>T (JMJD8)	XP_005255352.1:n.*983C>T
XM_005255297.3:c.*949C>T (JMJD8)	XP_005255354.1:n.*949C>T
XM_011522474.1:c.*949C>T (JMJD8)	XP_011520776.1:n.*949C>T
NM_001005920.3:c.*949C>T (JMJD8)	NP_001005920.3:n.*949C>T
NM_001323918.2:c.*983C>T (JMJD8)	NP_001310847.2:n.*983C>T
NM_001323919.2:c.*949C>T (JMJD8)	NP_001310848.2:n.*949C>T
NM_001323920.2:c.*949C>T (JMJD8)	NP_001310849.2:n.*949C>T
NM_001323922.2:c.*983C>T (JMJD8)	NP_001310851.2:n.*983C>T
NR_136650.2:n.1842C>T (JMJD8)
NR_136651.2:n.1847C>T (JMJD8)
NR_136652.2:n.1757C>T (JMJD8)
NM_001005920.4:c.*949C>T (JMJD8) MANE Select	NP_001005920.3:n.*949C>T
NM_005861.4:c.577G>A (STUB1) MANE Select	NP_005852.2:p.Val193Ile
NM_001293197.2:c.361G>A (STUB1)	NP_001280126.1:p.Val121Ile
NM_001323918.3:c.*983C>T (JMJD8)	NP_001310847.2:n.*983C>T
NM_001323919.3:c.*949C>T (JMJD8)	NP_001310848.2:n.*949C>T
NM_001323920.3:c.*949C>T (JMJD8)	NP_001310849.2:n.*949C>T
NM_001323922.3:c.*983C>T (JMJD8)	NP_001310851.2:n.*983C>T
NR_136650.3:n.1842C>T (JMJD8)
NR_136651.3:n.1847C>T (JMJD8)
NR_136652.3:n.1757C>T (JMJD8)