Canonical Allele Identifier: CA3035490
Gene: TBCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106295113G>A , CM000666.2:g.106295113G>A GRCh38
NC_000004.11:g.107216270G>A , CM000666.1:g.107216270G>A GRCh37
NC_000004.10:g.107435719G>A NCBI36
NG_034057.2:g.31383C>T
NG_034057.3:g.26571C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001163435.3:c.247C>T MANE Select NP_001156907.2:p.Arg83Ter
ENST00000394708.7:c.247C>T MANE Select ENSP00000378198.2:p.Arg83Ter
NM_001163435.2:c.247C>T NP_001156907.1:p.Arg83Ter
NM_001163436.2:c.247C>T NP_001156908.1:p.Arg83Ter
NM_001163436.4:c.247C>T NP_001156908.2:p.Arg83Ter
NM_001163437.2:c.247C>T NP_001156909.1:p.Arg83Ter
NM_001163437.3:c.247C>T NP_001156909.2:p.Arg83Ter
NM_001290768.1:c.-371C>T NP_001277697.1:n.-371C>T
NM_001290768.2:c.-371C>T NP_001277697.2:n.-371C>T
NM_033115.4:c.247C>T NP_149106.2:p.Arg83Ter
NM_033115.5:c.247C>T NP_149106.3:p.Arg83Ter
ENST00000273980.10:c.247C>T ENSP00000273980.4:p.Arg83Ter
ENST00000273980.9:c.247C>T ENSP00000273980.4:p.Arg83Ter
ENST00000361687.8:c.247C>T ENSP00000355338.4:p.Arg83Ter
ENST00000394706.7:c.247C>T ENSP00000378196.3:p.Arg83Ter
ENST00000394708.6:c.247C>T ENSP00000378198.2:p.Arg83Ter
ENST00000432496.6:c.247C>T ENSP00000405847.2:p.Arg83Ter
ENST00000467183.6:c.247C>T ENSP00000421182.1:p.Arg83Ter
ENST00000506280.1:n.82C>T
ENST00000509532.5:c.247C>T ENSP00000420985.1:p.Arg83Ter
ENST00000509862.5:c.247C>T ENSP00000425197.1:p.Arg83Ter
XM_006714419.2:c.247C>T XP_006714482.1:p.Arg83Ter
XM_011532417.1:c.247C>T XP_011530719.1:p.Arg83Ter
XM_011532417.2:c.247C>T XP_011530719.1:p.Arg83Ter
XM_011532418.1:c.-72C>T XP_011530720.1:n.-72C>T
XM_011532419.1:c.-81C>T XP_011530721.1:n.-81C>T
XM_017008846.1:c.247C>T XP_016864335.1:p.Arg83Ter
XM_017008847.2:c.247C>T XP_016864336.1:p.Arg83Ter
XM_017008848.1:c.-72C>T XP_016864337.1:n.-72C>T
XM_017008849.1:c.-81C>T XP_016864338.1:n.-81C>T
XM_024454281.1:c.247C>T XP_024310049.1:p.Arg83Ter
XM_024454282.1:c.247C>T XP_024310050.1:p.Arg83Ter
XR_001741353.2:n.587C>T
XR_001741354.2:n.184C>T
XR_938800.1:n.276C>T
XR_938800.3:n.587C>T
XR_939042.1:n.469-977G>A
XR_939043.1:n.432-977G>A
XR_939044.1:n.353-977G>A