Canonical Allele Identifier: CA357821930
Gene: TBCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106230415A>C , CM000666.2:g.106230415A>C GRCh38
NC_000004.11:g.107151572A>C , CM000666.1:g.107151572A>C GRCh37
NC_000004.10:g.107371021A>C NCBI36
NG_034057.2:g.96081T>G
NG_034057.3:g.91269T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273980.10:c.1722T>G ENSP00000273980.4:p.Ile574Met
ENST00000394708.7:c.1722T>G MANE Select ENSP00000378198.2:p.Ile574Met
ENST00000273980.9:c.1722T>G ENSP00000273980.4:p.Ile574Met
ENST00000361687.8:c.1533T>G ENSP00000355338.4:p.Ile511Met
ENST00000394706.7:c.1605T>G ENSP00000378196.3:p.Ile535Met
ENST00000394708.6:c.1722T>G ENSP00000378198.2:p.Ile574Met
ENST00000432496.6:c.1722T>G ENSP00000405847.2:p.Ile574Met
ENST00000467183.6:c.*1361T>G ENSP00000421182.1:n.*1361T>G
ENST00000506615.1:n.32T>G
ENST00000510927.5:n.1375T>G
NM_001163435.2:c.1722T>G NP_001156907.1:p.Ile574Met
NM_001163436.2:c.1722T>G NP_001156908.1:p.Ile574Met
NM_001163437.2:c.1605T>G NP_001156909.1:p.Ile535Met
NM_001290768.1:c.1206T>G NP_001277697.1:p.Ile402Met
NM_033115.4:c.1533T>G NP_149106.2:p.Ile511Met
XM_006714419.2:c.1722T>G XP_006714482.1:p.Ile574Met
XM_011532417.1:c.1722T>G XP_011530719.1:p.Ile574Met
XM_011532418.1:c.1404T>G XP_011530720.1:p.Ile468Met
XM_011532419.1:c.1206T>G XP_011530721.1:p.Ile402Met
XR_938800.1:n.1751T>G
XM_011532417.2:c.1722T>G XP_011530719.1:p.Ile574Met
XM_017008846.1:c.1722T>G XP_016864335.1:p.Ile574Met
XM_017008847.2:c.1722T>G XP_016864336.1:p.Ile574Met
XM_017008848.1:c.1404T>G XP_016864337.1:p.Ile468Met
XM_017008849.1:c.1206T>G XP_016864338.1:p.Ile402Met
XM_024454281.1:c.1722T>G XP_024310049.1:p.Ile574Met
XM_024454282.1:c.1722T>G XP_024310050.1:p.Ile574Met
XR_001741353.2:n.2062T>G
XR_001741354.2:n.1659T>G
XR_002959772.1:n.1846T>G
XR_938800.3:n.2062T>G
NM_001163435.3:c.1722T>G MANE Select NP_001156907.2:p.Ile574Met
NM_001163436.4:c.1722T>G NP_001156908.2:p.Ile574Met
NM_001163437.3:c.1605T>G NP_001156909.2:p.Ile535Met
NM_001290768.2:c.1206T>G NP_001277697.2:p.Ile402Met
NM_033115.5:c.1533T>G NP_149106.3:p.Ile511Met