Canonical Allele Identifier: CA493008571

Gene: STUB1 JMJD8 MSLN

Linked Data

• gnomAD v4: 16-681847-C-A
• MyVariant Identifiers: chr16:g.731847C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681847C>A , CM000678.2:g.681847C>A	GRCh38
NC_000016.9:g.731847C>A , CM000678.1:g.731847C>A	GRCh37
NC_000016.8:g.671848C>A	NCBI36
NG_034141.1:g.6737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.579C>A (STUB1) MANE Select	ENSP00000219548.4:p.Val193=
ENST00000609261.6:c.*947G>T (JMJD8) MANE Select	ENSP00000477481.1:n.*947G>T
ENST00000219548.8:c.579C>A (STUB1)	ENSP00000219548.4:p.Val193=
ENST00000412368.6:c.*947G>T (JMJD8)	ENSP00000399475.2:n.*947G>T
ENST00000563505.5:n.675C>A (STUB1)
ENST00000564316.1:c.178C>A (STUB1)
ENST00000564370.5:c.363C>A (STUB1)	ENSP00000456875.1:p.Val121=
ENST00000565302.5:n.1826G>T (JMJD8)
ENST00000565677.5:c.363C>A (STUB1)	ENSP00000457228.1:p.Val121=
ENST00000566181.2:n.348C>A (STUB1)
ENST00000566408.5:c.296C>A (STUB1)
ENST00000567120.5:n.2029G>T (JMJD8)
ENST00000567173.5:c.522C>A (STUB1)	ENSP00000456591.1:p.Val174=
ENST00000568689.5:n.1850G>T (JMJD8)
ENST00000569248.5:n.1153C>A (STUB1)
ENST00000609261.5:c.*947G>T (JMJD8)	ENSP00000477481.1:n.*947G>T
ENST00000620831.4:c.-50+38544C>A (MSLN)	ENSP00000482893.1:n.-50+38544C>A
NM_001005920.2:c.*947G>T (JMJD8)	NP_001005920.2:n.*947G>T
NM_001293197.1:c.363C>A (STUB1)	NP_001280126.1:p.Val121=
NM_005861.3:c.579C>A (STUB1)	NP_005852.2:p.Val193=
XM_005255295.3:c.*981G>T (JMJD8)	XP_005255352.1:n.*981G>T
XM_005255297.3:c.*947G>T (JMJD8)	XP_005255354.1:n.*947G>T
XM_011522474.1:c.*947G>T (JMJD8)	XP_011520776.1:n.*947G>T
NM_001005920.3:c.*947G>T (JMJD8)	NP_001005920.3:n.*947G>T
NM_001323918.2:c.*981G>T (JMJD8)	NP_001310847.2:n.*981G>T
NM_001323919.2:c.*947G>T (JMJD8)	NP_001310848.2:n.*947G>T
NM_001323920.2:c.*947G>T (JMJD8)	NP_001310849.2:n.*947G>T
NM_001323922.2:c.*981G>T (JMJD8)	NP_001310851.2:n.*981G>T
NR_136650.2:n.1840G>T (JMJD8)
NR_136651.2:n.1845G>T (JMJD8)
NR_136652.2:n.1755G>T (JMJD8)
NM_001005920.4:c.*947G>T (JMJD8) MANE Select	NP_001005920.3:n.*947G>T
NM_005861.4:c.579C>A (STUB1) MANE Select	NP_005852.2:p.Val193=
NM_001293197.2:c.363C>A (STUB1)	NP_001280126.1:p.Val121=
NM_001323918.3:c.*981G>T (JMJD8)	NP_001310847.2:n.*981G>T
NM_001323919.3:c.*947G>T (JMJD8)	NP_001310848.2:n.*947G>T
NM_001323920.3:c.*947G>T (JMJD8)	NP_001310849.2:n.*947G>T
NM_001323922.3:c.*981G>T (JMJD8)	NP_001310851.2:n.*981G>T
NR_136650.3:n.1840G>T (JMJD8)
NR_136651.3:n.1845G>T (JMJD8)
NR_136652.3:n.1755G>T (JMJD8)