Canonical Allele Identifier: CA440553392
Gene: TBCK HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.107151527T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106230370T>A , CM000666.2:g.106230370T>A GRCh38
NC_000004.11:g.107151527T>A , CM000666.1:g.107151527T>A GRCh37
NC_000004.10:g.107370976T>A NCBI36
NG_034057.2:g.96126A>T
NG_034057.3:g.91314A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273980.10:c.1767A>T ENSP00000273980.4:p.Val589=
ENST00000394708.7:c.1767A>T MANE Select ENSP00000378198.2:p.Val589=
ENST00000273980.9:c.1767A>T ENSP00000273980.4:p.Val589=
ENST00000361687.8:c.1578A>T ENSP00000355338.4:p.Val526=
ENST00000394706.7:c.1650A>T ENSP00000378196.3:p.Val550=
ENST00000394708.6:c.1767A>T ENSP00000378198.2:p.Val589=
ENST00000432496.6:c.1767A>T ENSP00000405847.2:p.Val589=
ENST00000467183.6:c.*1406A>T ENSP00000421182.1:n.*1406A>T
ENST00000506615.1:n.77A>T
ENST00000510927.5:n.1420A>T
NM_001163435.2:c.1767A>T NP_001156907.1:p.Val589=
NM_001163436.2:c.1767A>T NP_001156908.1:p.Val589=
NM_001163437.2:c.1650A>T NP_001156909.1:p.Val550=
NM_001290768.1:c.1251A>T NP_001277697.1:p.Val417=
NM_033115.4:c.1578A>T NP_149106.2:p.Val526=
XM_006714419.2:c.1767A>T XP_006714482.1:p.Val589=
XM_011532417.1:c.1767A>T XP_011530719.1:p.Val589=
XM_011532418.1:c.1449A>T XP_011530720.1:p.Val483=
XM_011532419.1:c.1251A>T XP_011530721.1:p.Val417=
XR_938800.1:n.1796A>T
XM_011532417.2:c.1767A>T XP_011530719.1:p.Val589=
XM_017008846.1:c.1767A>T XP_016864335.1:p.Val589=
XM_017008847.2:c.1767A>T XP_016864336.1:p.Val589=
XM_017008848.1:c.1449A>T XP_016864337.1:p.Val483=
XM_017008849.1:c.1251A>T XP_016864338.1:p.Val417=
XM_024454281.1:c.1767A>T XP_024310049.1:p.Val589=
XM_024454282.1:c.1767A>T XP_024310050.1:p.Val589=
XR_001741353.2:n.2107A>T
XR_001741354.2:n.1704A>T
XR_002959772.1:n.1891A>T
XR_938800.3:n.2107A>T
NM_001163435.3:c.1767A>T MANE Select NP_001156907.2:p.Val589=
NM_001163436.4:c.1767A>T NP_001156908.2:p.Val589=
NM_001163437.3:c.1650A>T NP_001156909.2:p.Val550=
NM_001290768.2:c.1251A>T NP_001277697.2:p.Val417=
NM_033115.5:c.1578A>T NP_149106.3:p.Val526=