Canonical Allele Identifier: CA238250177

Gene: TBK1

Linked Data

• ClinVar Variation Id: 495316
• ClinVar RCV Id: RCV000586295 ; RCV003588649
• dbSNP Id: rs1010930015
• gnomAD v2: 12-64854030-A-C
• gnomAD v3: 12-64460250-A-C
• gnomAD v4: 12-64460250-A-C
• MyVariant Identifiers: chr12:g.64854030A>C (hg19) ; chr12:g.64460250A>C (hg38)
• PubMed: PMID:22851595

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64460250A>C , CM000674.2:g.64460250A>C	GRCh38
NC_000012.11:g.64854030A>C , CM000674.1:g.64854030A>C	GRCh37
NC_000012.10:g.63140297A>C	NCBI36
NG_046906.1:g.13191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331710.10:c.149A>C MANE Select	ENSP00000329967.5:p.Asp50Ala
ENST00000650708.1:c.25A>C
ENST00000650762.1:c.-8A>C	ENSP00000498758.1:n.-8A>C
ENST00000650786.1:c.*294A>C	ENSP00000498280.1:n.*294A>C
ENST00000650790.1:c.149A>C	ENSP00000498995.1:p.Asp50Ala
ENST00000650997.1:c.149A>C	ENSP00000498341.1:p.Asp50Ala
ENST00000651014.1:c.-8A>C	ENSP00000498885.1:n.-8A>C
ENST00000651262.1:c.149A>C	ENSP00000498461.1:p.Asp50Ala
ENST00000651878.1:c.149A>C	ENSP00000499077.1:p.Asp50Ala
ENST00000651947.1:n.237A>C
ENST00000652389.1:c.149A>C	ENSP00000498414.1:p.Asp50Ala
ENST00000652537.1:c.149A>C	ENSP00000499102.1:p.Asp50Ala
ENST00000652657.1:c.149A>C	ENSP00000498887.1:p.Asp50Ala
ENST00000676469.1:c.88-4084A>C	ENSP00000503155.1:n.88-4084A>C
ENST00000676551.1:n.248A>C
ENST00000676654.1:n.278A>C
ENST00000676684.1:n.278A>C
ENST00000676809.1:c.149A>C	ENSP00000504298.1:p.Asp50Ala
ENST00000676912.1:c.-8A>C	ENSP00000503567.1:n.-8A>C
ENST00000676930.1:c.149A>C	ENSP00000502899.1:p.Asp50Ala
ENST00000677499.1:c.149A>C	ENSP00000502875.1:p.Asp50Ala
ENST00000677545.1:c.-8A>C	ENSP00000504729.1:n.-8A>C
ENST00000677549.1:n.211A>C
ENST00000677632.1:c.149A>C	ENSP00000504586.1:p.Asp50Ala
ENST00000677641.1:c.149A>C	ENSP00000504637.1:p.Asp50Ala
ENST00000677686.1:n.252A>C
ENST00000677831.1:c.149A>C	ENSP00000503760.1:p.Asp50Ala
ENST00000678180.1:c.149A>C	ENSP00000504132.1:p.Asp50Ala
ENST00000678197.1:n.133A>C
ENST00000678430.1:n.248A>C
ENST00000679050.1:c.62A>C	ENSP00000503595.1:p.Asp21Ala
ENST00000331710.9:c.149A>C	ENSP00000329967.5:p.Asp50Ala
ENST00000538890.5:c.149A>C	ENSP00000445834.1:p.Asp50Ala
ENST00000539810.1:c.-8A>C	ENSP00000444428.1:n.-8A>C
ENST00000540417.1:c.149A>C	ENSP00000445628.1:p.Asp50Ala
NM_013254.3:c.149A>C	NP_037386.1:p.Asp50Ala
XM_005268809.1:c.149A>C	XP_005268866.1:p.Asp50Ala
XM_005268810.1:c.149A>C	XP_005268867.1:p.Asp50Ala
XR_944524.1:n.308A>C
XR_944525.1:n.308A>C
XR_001748674.2:n.263A>C
NM_013254.4:c.149A>C MANE Select	NP_037386.1:p.Asp50Ala