Canonical Allele Identifier: CA15302651
Gene: TBCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106309206T>C , CM000666.2:g.106309206T>C GRCh38
NC_000004.11:g.107230363T>C , CM000666.1:g.107230363T>C GRCh37
NC_000004.10:g.107449812T>C NCBI36
NG_034057.2:g.17290A>G
NG_034057.3:g.12478A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001163435.3:c.-29-217A>G MANE Select NP_001156907.2:n.-29-217A>G
ENST00000394708.7:c.-29-217A>G MANE Select ENSP00000378198.2:n.-29-217A>G
NM_001163435.2:c.-29-217A>G NP_001156907.1:n.-29-217A>G
NM_001163436.2:c.-29-217A>G NP_001156908.1:n.-29-217A>G
NM_001163436.4:c.-29-217A>G NP_001156908.2:n.-29-217A>G
NM_001163437.2:c.-29-217A>G NP_001156909.1:n.-29-217A>G
NM_001163437.3:c.-29-217A>G NP_001156909.2:n.-29-217A>G
NM_001290768.1:c.-646-217A>G NP_001277697.1:n.-646-217A>G
NM_001290768.2:c.-646-217A>G NP_001277697.2:n.-646-217A>G
NM_033115.4:c.-29-217A>G NP_149106.2:n.-29-217A>G
NM_033115.5:c.-29-217A>G NP_149106.3:n.-29-217A>G
ENST00000273980.10:c.-29-217A>G ENSP00000273980.4:n.-29-217A>G
ENST00000273980.9:c.-29-217A>G ENSP00000273980.4:n.-29-217A>G
ENST00000361687.8:c.-29-217A>G ENSP00000355338.4:n.-29-217A>G
ENST00000394706.7:c.-29-217A>G ENSP00000378196.3:n.-29-217A>G
ENST00000394708.6:c.-29-217A>G ENSP00000378198.2:n.-29-217A>G
ENST00000432496.6:c.-29-217A>G ENSP00000405847.2:n.-29-217A>G
ENST00000467183.6:c.-29-217A>G ENSP00000421182.1:n.-29-217A>G
ENST00000507696.1:c.-29-217A>G ENSP00000423637.1:n.-29-217A>G
ENST00000509532.5:c.-29-217A>G ENSP00000420985.1:n.-29-217A>G
ENST00000509862.5:c.-29-217A>G ENSP00000425197.1:n.-29-217A>G
XM_011532417.1:c.-29-217A>G XP_011530719.1:n.-29-217A>G
XM_011532417.2:c.-29-217A>G XP_011530719.1:n.-29-217A>G
XM_011532418.1:c.-493-217A>G XP_011530720.1:n.-493-217A>G
XM_011532419.1:c.-502-217A>G XP_011530721.1:n.-502-217A>G
XM_017008846.1:c.-29-217A>G XP_016864335.1:n.-29-217A>G
XM_017008847.2:c.-29-217A>G XP_016864336.1:n.-29-217A>G
XM_024454281.1:c.-29-217A>G XP_024310049.1:n.-29-217A>G
XM_024454282.1:c.-29-217A>G XP_024310050.1:n.-29-217A>G
XR_001741353.2:n.312-217A>G
XR_938800.3:n.312-217A>G