Canonical Allele Identifier: CA357821972

Gene: TBCK

Linked Data

• ClinVar Variation Id: 809651
• ClinVar RCV Id: RCV000998255
• dbSNP Id: rs771839389
• gnomAD v4: 4-106230432-A-G
• MyVariant Identifiers: chr4:g.107151589A>G (hg19) ; chr4:g.106230432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106230432A>G , CM000666.2:g.106230432A>G	GRCh38
NC_000004.11:g.107151589A>G , CM000666.1:g.107151589A>G	GRCh37
NC_000004.10:g.107371038A>G	NCBI36
NG_034057.2:g.96064T>C
NG_034057.3:g.91252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1705T>C	ENSP00000273980.4:p.Cys569Arg
ENST00000394708.7:c.1705T>C MANE Select	ENSP00000378198.2:p.Cys569Arg
ENST00000273980.9:c.1705T>C	ENSP00000273980.4:p.Cys569Arg
ENST00000361687.8:c.1516T>C	ENSP00000355338.4:p.Cys506Arg
ENST00000394706.7:c.1588T>C	ENSP00000378196.3:p.Cys530Arg
ENST00000394708.6:c.1705T>C	ENSP00000378198.2:p.Cys569Arg
ENST00000432496.6:c.1705T>C	ENSP00000405847.2:p.Cys569Arg
ENST00000467183.6:c.*1344T>C	ENSP00000421182.1:n.*1344T>C
ENST00000506615.1:n.15T>C
ENST00000510927.5:n.1358T>C
NM_001163435.2:c.1705T>C	NP_001156907.1:p.Cys569Arg
NM_001163436.2:c.1705T>C	NP_001156908.1:p.Cys569Arg
NM_001163437.2:c.1588T>C	NP_001156909.1:p.Cys530Arg
NM_001290768.1:c.1189T>C	NP_001277697.1:p.Cys397Arg
NM_033115.4:c.1516T>C	NP_149106.2:p.Cys506Arg
XM_006714419.2:c.1705T>C	XP_006714482.1:p.Cys569Arg
XM_011532417.1:c.1705T>C	XP_011530719.1:p.Cys569Arg
XM_011532418.1:c.1387T>C	XP_011530720.1:p.Cys463Arg
XM_011532419.1:c.1189T>C	XP_011530721.1:p.Cys397Arg
XR_938800.1:n.1734T>C
XM_011532417.2:c.1705T>C	XP_011530719.1:p.Cys569Arg
XM_017008846.1:c.1705T>C	XP_016864335.1:p.Cys569Arg
XM_017008847.2:c.1705T>C	XP_016864336.1:p.Cys569Arg
XM_017008848.1:c.1387T>C	XP_016864337.1:p.Cys463Arg
XM_017008849.1:c.1189T>C	XP_016864338.1:p.Cys397Arg
XM_024454281.1:c.1705T>C	XP_024310049.1:p.Cys569Arg
XM_024454282.1:c.1705T>C	XP_024310050.1:p.Cys569Arg
XR_001741353.2:n.2045T>C
XR_001741354.2:n.1642T>C
XR_002959772.1:n.1829T>C
XR_938800.3:n.2045T>C
NM_001163435.3:c.1705T>C MANE Select	NP_001156907.2:p.Cys569Arg
NM_001163436.4:c.1705T>C	NP_001156908.2:p.Cys569Arg
NM_001163437.3:c.1588T>C	NP_001156909.2:p.Cys530Arg
NM_001290768.2:c.1189T>C	NP_001277697.2:p.Cys397Arg
NM_033115.5:c.1516T>C	NP_149106.3:p.Cys506Arg