Canonical Allele Identifier: CA249959

Gene: TBCK

Linked Data

• ClinVar Variation Id: 183338
• ClinVar RCV Id: RCV001814075 ; RCV002516437
• dbSNP Id: rs374319146
• gnomAD v2: 4-107115874-C-T
• gnomAD v3: 4-106194717-C-T
• gnomAD v4: 4-106194717-C-T
• COSMIC: COSM1426255
• MyVariant Identifiers: chr4:g.107115874C>T (hg19) ; chr4:g.106194717C>T (hg38)
• PubMed: PMID:25558065 ; PMID:27040691

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106194717C>T , CM000666.2:g.106194717C>T	GRCh38
NC_000004.11:g.107115874C>T , CM000666.1:g.107115874C>T	GRCh37
NC_000004.10:g.107335323C>T	NCBI36
NG_034057.2:g.131779G>A
NG_034057.3:g.126967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273980.10:c.1897+1G>A	ENSP00000273980.4:n.1897+1G>A
ENST00000394708.7:c.1897+1G>A MANE Select	ENSP00000378198.2:n.1897+1G>A
ENST00000273980.9:c.1897+1G>A	ENSP00000273980.4:n.1897+1G>A
ENST00000361687.8:c.1708+1G>A	ENSP00000355338.4:n.1708+1G>A
ENST00000394706.7:c.1780+1G>A	ENSP00000378196.3:n.1780+1G>A
ENST00000394708.6:c.1897+1G>A	ENSP00000378198.2:n.1897+1G>A
ENST00000432496.6:c.1897+1G>A	ENSP00000405847.2:n.1897+1G>A
ENST00000467183.6:c.*1536+1G>A	ENSP00000421182.1:n.*1536+1G>A
ENST00000506615.1:n.171-947G>A
ENST00000510927.5:n.1550+1G>A
ENST00000511011.5:n.368+1G>A
ENST00000514689.5:n.190-947G>A
ENST00000515705.5:n.194+1G>A
NM_001163435.2:c.1897+1G>A	NP_001156907.1:n.1897+1G>A
NM_001163436.2:c.1897+1G>A	NP_001156908.1:n.1897+1G>A
NM_001163437.2:c.1780+1G>A	NP_001156909.1:n.1780+1G>A
NM_001290768.1:c.1381+1G>A	NP_001277697.1:n.1381+1G>A
NM_033115.4:c.1708+1G>A	NP_149106.2:n.1708+1G>A
XM_006714419.2:c.1897+1G>A	XP_006714482.1:n.1897+1G>A
XM_011532417.1:c.1897+1G>A	XP_011530719.1:n.1897+1G>A
XM_011532418.1:c.1579+1G>A	XP_011530720.1:n.1579+1G>A
XM_011532419.1:c.1381+1G>A	XP_011530721.1:n.1381+1G>A
XR_938800.1:n.1926+1G>A
XM_011532417.2:c.1897+1G>A	XP_011530719.1:n.1897+1G>A
XM_017008846.1:c.1897+1G>A	XP_016864335.1:n.1897+1G>A
XM_017008847.2:c.1897+1G>A	XP_016864336.1:n.1897+1G>A
XM_017008848.1:c.1579+1G>A	XP_016864337.1:n.1579+1G>A
XM_017008849.1:c.1381+1G>A	XP_016864338.1:n.1381+1G>A
XM_024454281.1:c.1897+1G>A	XP_024310049.1:n.1897+1G>A
XM_024454282.1:c.1897+1G>A	XP_024310050.1:n.1897+1G>A
XR_001741353.2:n.2237+1G>A
XR_001741354.2:n.1798-947G>A
XR_002959772.1:n.2021+1G>A
XR_938800.3:n.2237+1G>A
NM_001163435.3:c.1897+1G>A MANE Select	NP_001156907.2:n.1897+1G>A
NM_001163436.4:c.1897+1G>A	NP_001156908.2:n.1897+1G>A
NM_001163437.3:c.1780+1G>A	NP_001156909.2:n.1780+1G>A
NM_001290768.2:c.1381+1G>A	NP_001277697.2:n.1381+1G>A
NM_033115.5:c.1708+1G>A	NP_149106.3:n.1708+1G>A