Canonical Allele Identifier: CA394113032

Gene: STUB1 JMJD8 MSLN

Linked Data

• gnomAD v4: 16-681837-A-G
• MyVariant Identifiers: chr16:g.731837A>G (hg19) ; chr16:g.681837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681837A>G , CM000678.2:g.681837A>G	GRCh38
NC_000016.9:g.731837A>G , CM000678.1:g.731837A>G	GRCh37
NC_000016.8:g.671838A>G	NCBI36
NG_034141.1:g.6727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.569A>G (STUB1) MANE Select	ENSP00000219548.4:p.Asp190Gly
ENST00000609261.6:c.*957T>C (JMJD8) MANE Select	ENSP00000477481.1:n.*957T>C
ENST00000219548.8:c.569A>G (STUB1)	ENSP00000219548.4:p.Asp190Gly
ENST00000412368.6:c.*957T>C (JMJD8)	ENSP00000399475.2:n.*957T>C
ENST00000563505.5:n.665A>G (STUB1)
ENST00000564316.1:c.168A>G (STUB1)
ENST00000564370.5:c.353A>G (STUB1)	ENSP00000456875.1:p.Asp118Gly
ENST00000565302.5:n.1836T>C (JMJD8)
ENST00000565677.5:c.353A>G (STUB1)	ENSP00000457228.1:p.Asp118Gly
ENST00000566181.2:n.338A>G (STUB1)
ENST00000566408.5:c.286A>G (STUB1)
ENST00000567120.5:n.2039T>C (JMJD8)
ENST00000567173.5:c.512A>G (STUB1)	ENSP00000456591.1:p.Asp171Gly
ENST00000568689.5:n.1860T>C (JMJD8)
ENST00000569248.5:n.1143A>G (STUB1)
ENST00000609261.5:c.*957T>C (JMJD8)	ENSP00000477481.1:n.*957T>C
ENST00000620831.4:c.-50+38534A>G (MSLN)	ENSP00000482893.1:n.-50+38534A>G
NM_001005920.2:c.*957T>C (JMJD8)	NP_001005920.2:n.*957T>C
NM_001293197.1:c.353A>G (STUB1)	NP_001280126.1:p.Asp118Gly
NM_005861.3:c.569A>G (STUB1)	NP_005852.2:p.Asp190Gly
XM_005255295.3:c.*991T>C (JMJD8)	XP_005255352.1:n.*991T>C
XM_005255297.3:c.*957T>C (JMJD8)	XP_005255354.1:n.*957T>C
XM_011522474.1:c.*957T>C (JMJD8)	XP_011520776.1:n.*957T>C
NM_001005920.3:c.*957T>C (JMJD8)	NP_001005920.3:n.*957T>C
NM_001323918.2:c.*991T>C (JMJD8)	NP_001310847.2:n.*991T>C
NM_001323919.2:c.*957T>C (JMJD8)	NP_001310848.2:n.*957T>C
NM_001323920.2:c.*957T>C (JMJD8)	NP_001310849.2:n.*957T>C
NM_001323922.2:c.*991T>C (JMJD8)	NP_001310851.2:n.*991T>C
NR_136650.2:n.1850T>C (JMJD8)
NR_136651.2:n.1855T>C (JMJD8)
NR_136652.2:n.1765T>C (JMJD8)
NM_001005920.4:c.*957T>C (JMJD8) MANE Select	NP_001005920.3:n.*957T>C
NM_005861.4:c.569A>G (STUB1) MANE Select	NP_005852.2:p.Asp190Gly
NM_001293197.2:c.353A>G (STUB1)	NP_001280126.1:p.Asp118Gly
NM_001323918.3:c.*991T>C (JMJD8)	NP_001310847.2:n.*991T>C
NM_001323919.3:c.*957T>C (JMJD8)	NP_001310848.2:n.*957T>C
NM_001323920.3:c.*957T>C (JMJD8)	NP_001310849.2:n.*957T>C
NM_001323922.3:c.*991T>C (JMJD8)	NP_001310851.2:n.*991T>C
NR_136650.3:n.1850T>C (JMJD8)
NR_136651.3:n.1855T>C (JMJD8)
NR_136652.3:n.1765T>C (JMJD8)