Canonical Allele Identifier: CA394113135

Gene: STUB1 JMJD8 MSLN

Linked Data

• ClinVar Variation Id: 1721903
• ClinVar RCV Id: RCV002302252
• gnomAD v4: 16-681859-G-C
• MyVariant Identifiers: chr16:g.731859G>C (hg19) ; chr16:g.681859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681859G>C , CM000678.2:g.681859G>C	GRCh38
NC_000016.9:g.731859G>C , CM000678.1:g.731859G>C	GRCh37
NC_000016.8:g.671860G>C	NCBI36
NG_034141.1:g.6749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.591G>C (STUB1) MANE Select	ENSP00000219548.4:p.Gln197His
ENST00000609261.6:c.*935C>G (JMJD8) MANE Select	ENSP00000477481.1:n.*935C>G
ENST00000219548.8:c.591G>C (STUB1)	ENSP00000219548.4:p.Gln197His
ENST00000412368.6:c.*935C>G (JMJD8)	ENSP00000399475.2:n.*935C>G
ENST00000563505.5:n.687G>C (STUB1)
ENST00000564316.1:c.190G>C (STUB1)
ENST00000564370.5:c.375G>C (STUB1)	ENSP00000456875.1:p.Gln125His
ENST00000565302.5:n.1814C>G (JMJD8)
ENST00000565677.5:c.375G>C (STUB1)	ENSP00000457228.1:p.Gln125His
ENST00000566181.2:n.360G>C (STUB1)
ENST00000566408.5:c.308G>C (STUB1)
ENST00000567120.5:n.2017C>G (JMJD8)
ENST00000567173.5:c.534G>C (STUB1)	ENSP00000456591.1:p.Gln178His
ENST00000568689.5:n.1838C>G (JMJD8)
ENST00000569248.5:n.1165G>C (STUB1)
ENST00000609261.5:c.*935C>G (JMJD8)	ENSP00000477481.1:n.*935C>G
ENST00000620831.4:c.-50+38556G>C (MSLN)	ENSP00000482893.1:n.-50+38556G>C
NM_001005920.2:c.*935C>G (JMJD8)	NP_001005920.2:n.*935C>G
NM_001293197.1:c.375G>C (STUB1)	NP_001280126.1:p.Gln125His
NM_005861.3:c.591G>C (STUB1)	NP_005852.2:p.Gln197His
XM_005255295.3:c.*969C>G (JMJD8)	XP_005255352.1:n.*969C>G
XM_005255297.3:c.*935C>G (JMJD8)	XP_005255354.1:n.*935C>G
XM_011522474.1:c.*935C>G (JMJD8)	XP_011520776.1:n.*935C>G
NM_001005920.3:c.*935C>G (JMJD8)	NP_001005920.3:n.*935C>G
NM_001323918.2:c.*969C>G (JMJD8)	NP_001310847.2:n.*969C>G
NM_001323919.2:c.*935C>G (JMJD8)	NP_001310848.2:n.*935C>G
NM_001323920.2:c.*935C>G (JMJD8)	NP_001310849.2:n.*935C>G
NM_001323922.2:c.*969C>G (JMJD8)	NP_001310851.2:n.*969C>G
NR_136650.2:n.1828C>G (JMJD8)
NR_136651.2:n.1833C>G (JMJD8)
NR_136652.2:n.1743C>G (JMJD8)
NM_001005920.4:c.*935C>G (JMJD8) MANE Select	NP_001005920.3:n.*935C>G
NM_005861.4:c.591G>C (STUB1) MANE Select	NP_005852.2:p.Gln197His
NM_001293197.2:c.375G>C (STUB1)	NP_001280126.1:p.Gln125His
NM_001323918.3:c.*969C>G (JMJD8)	NP_001310847.2:n.*969C>G
NM_001323919.3:c.*935C>G (JMJD8)	NP_001310848.2:n.*935C>G
NM_001323920.3:c.*935C>G (JMJD8)	NP_001310849.2:n.*935C>G
NM_001323922.3:c.*969C>G (JMJD8)	NP_001310851.2:n.*969C>G
NR_136650.3:n.1828C>G (JMJD8)
NR_136651.3:n.1833C>G (JMJD8)
NR_136652.3:n.1743C>G (JMJD8)