Canonical Allele Identifier: CA357821956
Gene: TBCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106230426A>T , CM000666.2:g.106230426A>T GRCh38
NC_000004.11:g.107151583A>T , CM000666.1:g.107151583A>T GRCh37
NC_000004.10:g.107371032A>T NCBI36
NG_034057.2:g.96070T>A
NG_034057.3:g.91258T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273980.10:c.1711T>A ENSP00000273980.4:p.Ser571Thr
ENST00000394708.7:c.1711T>A MANE Select ENSP00000378198.2:p.Ser571Thr
ENST00000273980.9:c.1711T>A ENSP00000273980.4:p.Ser571Thr
ENST00000361687.8:c.1522T>A ENSP00000355338.4:p.Ser508Thr
ENST00000394706.7:c.1594T>A ENSP00000378196.3:p.Ser532Thr
ENST00000394708.6:c.1711T>A ENSP00000378198.2:p.Ser571Thr
ENST00000432496.6:c.1711T>A ENSP00000405847.2:p.Ser571Thr
ENST00000467183.6:c.*1350T>A ENSP00000421182.1:n.*1350T>A
ENST00000506615.1:n.21T>A
ENST00000510927.5:n.1364T>A
NM_001163435.2:c.1711T>A NP_001156907.1:p.Ser571Thr
NM_001163436.2:c.1711T>A NP_001156908.1:p.Ser571Thr
NM_001163437.2:c.1594T>A NP_001156909.1:p.Ser532Thr
NM_001290768.1:c.1195T>A NP_001277697.1:p.Ser399Thr
NM_033115.4:c.1522T>A NP_149106.2:p.Ser508Thr
XM_006714419.2:c.1711T>A XP_006714482.1:p.Ser571Thr
XM_011532417.1:c.1711T>A XP_011530719.1:p.Ser571Thr
XM_011532418.1:c.1393T>A XP_011530720.1:p.Ser465Thr
XM_011532419.1:c.1195T>A XP_011530721.1:p.Ser399Thr
XR_938800.1:n.1740T>A
XM_011532417.2:c.1711T>A XP_011530719.1:p.Ser571Thr
XM_017008846.1:c.1711T>A XP_016864335.1:p.Ser571Thr
XM_017008847.2:c.1711T>A XP_016864336.1:p.Ser571Thr
XM_017008848.1:c.1393T>A XP_016864337.1:p.Ser465Thr
XM_017008849.1:c.1195T>A XP_016864338.1:p.Ser399Thr
XM_024454281.1:c.1711T>A XP_024310049.1:p.Ser571Thr
XM_024454282.1:c.1711T>A XP_024310050.1:p.Ser571Thr
XR_001741353.2:n.2051T>A
XR_001741354.2:n.1648T>A
XR_002959772.1:n.1835T>A
XR_938800.3:n.2051T>A
NM_001163435.3:c.1711T>A MANE Select NP_001156907.2:p.Ser571Thr
NM_001163436.4:c.1711T>A NP_001156908.2:p.Ser571Thr
NM_001163437.3:c.1594T>A NP_001156909.2:p.Ser532Thr
NM_001290768.2:c.1195T>A NP_001277697.2:p.Ser399Thr
NM_033115.5:c.1522T>A NP_149106.3:p.Ser508Thr