Canonical Allele Identifier: CA2762969409
Gene: TBCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106235449G>C , CM000666.2:g.106235449G>C GRCh38
NC_000004.11:g.107156606G>C , CM000666.1:g.107156606G>C GRCh37
NC_000004.10:g.107376055G>C NCBI36
NG_034057.2:g.91047C>G
NG_034057.3:g.86235C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273980.10:c.1351-82C>G ENSP00000273980.4:n.1351-82C>G
ENST00000394708.7:c.1351-82C>G MANE Select ENSP00000378198.2:n.1351-82C>G
ENST00000273980.9:c.1351-82C>G ENSP00000273980.4:n.1351-82C>G
ENST00000361687.8:c.1162-82C>G ENSP00000355338.4:n.1162-82C>G
ENST00000394706.7:c.1234-82C>G ENSP00000378196.3:n.1234-82C>G
ENST00000394708.6:c.1351-82C>G ENSP00000378198.2:n.1351-82C>G
ENST00000432496.6:c.1351-82C>G ENSP00000405847.2:n.1351-82C>G
ENST00000467183.6:c.*990-82C>G ENSP00000421182.1:n.*990-82C>G
ENST00000503516.1:c.-60-82C>G ENSP00000423834.1:n.-60-82C>G
ENST00000508666.5:c.615-82C>G
ENST00000510927.5:n.1004-82C>G
NM_001163435.2:c.1351-82C>G NP_001156907.1:n.1351-82C>G
NM_001163436.2:c.1351-82C>G NP_001156908.1:n.1351-82C>G
NM_001163437.2:c.1234-82C>G NP_001156909.1:n.1234-82C>G
NM_001290768.1:c.835-82C>G NP_001277697.1:n.835-82C>G
NM_033115.4:c.1162-82C>G NP_149106.2:n.1162-82C>G
XM_006714419.2:c.1351-82C>G XP_006714482.1:n.1351-82C>G
XM_011532417.1:c.1351-82C>G XP_011530719.1:n.1351-82C>G
XM_011532418.1:c.1033-82C>G XP_011530720.1:n.1033-82C>G
XM_011532419.1:c.835-82C>G XP_011530721.1:n.835-82C>G
XR_938800.1:n.1380-82C>G
XM_011532417.2:c.1351-82C>G XP_011530719.1:n.1351-82C>G
XM_017008846.1:c.1351-82C>G XP_016864335.1:n.1351-82C>G
XM_017008847.2:c.1351-82C>G XP_016864336.1:n.1351-82C>G
XM_017008848.1:c.1033-82C>G XP_016864337.1:n.1033-82C>G
XM_017008849.1:c.835-82C>G XP_016864338.1:n.835-82C>G
XM_024454281.1:c.1351-82C>G XP_024310049.1:n.1351-82C>G
XM_024454282.1:c.1351-82C>G XP_024310050.1:n.1351-82C>G
XR_001741353.2:n.1691-82C>G
XR_001741354.2:n.1288-82C>G
XR_002959772.1:n.1475-82C>G
XR_938800.3:n.1691-82C>G
NM_001163435.3:c.1351-82C>G MANE Select NP_001156907.2:n.1351-82C>G
NM_001163436.4:c.1351-82C>G NP_001156908.2:n.1351-82C>G
NM_001163437.3:c.1234-82C>G NP_001156909.2:n.1234-82C>G
NM_001290768.2:c.835-82C>G NP_001277697.2:n.835-82C>G
NM_033115.5:c.1162-82C>G NP_149106.3:n.1162-82C>G