Canonical Allele Identifier: CA357821988

Gene: TBCK

Linked Data

• MyVariant Identifiers: chr4:g.107151597G>C (hg19) ; chr4:g.106230440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106230440G>C , CM000666.2:g.106230440G>C	GRCh38
NC_000004.11:g.107151597G>C , CM000666.1:g.107151597G>C	GRCh37
NC_000004.10:g.107371046G>C	NCBI36
NG_034057.2:g.96056C>G
NG_034057.3:g.91244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1697C>G	ENSP00000273980.4:p.Ala566Gly
ENST00000394708.7:c.1697C>G MANE Select	ENSP00000378198.2:p.Ala566Gly
ENST00000273980.9:c.1697C>G	ENSP00000273980.4:p.Ala566Gly
ENST00000361687.8:c.1508C>G	ENSP00000355338.4:p.Ala503Gly
ENST00000394706.7:c.1580C>G	ENSP00000378196.3:p.Ala527Gly
ENST00000394708.6:c.1697C>G	ENSP00000378198.2:p.Ala566Gly
ENST00000432496.6:c.1697C>G	ENSP00000405847.2:p.Ala566Gly
ENST00000467183.6:c.*1336C>G	ENSP00000421182.1:n.*1336C>G
ENST00000506615.1:n.7C>G
ENST00000510927.5:n.1350C>G
NM_001163435.2:c.1697C>G	NP_001156907.1:p.Ala566Gly
NM_001163436.2:c.1697C>G	NP_001156908.1:p.Ala566Gly
NM_001163437.2:c.1580C>G	NP_001156909.1:p.Ala527Gly
NM_001290768.1:c.1181C>G	NP_001277697.1:p.Ala394Gly
NM_033115.4:c.1508C>G	NP_149106.2:p.Ala503Gly
XM_006714419.2:c.1697C>G	XP_006714482.1:p.Ala566Gly
XM_011532417.1:c.1697C>G	XP_011530719.1:p.Ala566Gly
XM_011532418.1:c.1379C>G	XP_011530720.1:p.Ala460Gly
XM_011532419.1:c.1181C>G	XP_011530721.1:p.Ala394Gly
XR_938800.1:n.1726C>G
XM_011532417.2:c.1697C>G	XP_011530719.1:p.Ala566Gly
XM_017008846.1:c.1697C>G	XP_016864335.1:p.Ala566Gly
XM_017008847.2:c.1697C>G	XP_016864336.1:p.Ala566Gly
XM_017008848.1:c.1379C>G	XP_016864337.1:p.Ala460Gly
XM_017008849.1:c.1181C>G	XP_016864338.1:p.Ala394Gly
XM_024454281.1:c.1697C>G	XP_024310049.1:p.Ala566Gly
XM_024454282.1:c.1697C>G	XP_024310050.1:p.Ala566Gly
XR_001741353.2:n.2037C>G
XR_001741354.2:n.1634C>G
XR_002959772.1:n.1821C>G
XR_938800.3:n.2037C>G
NM_001163435.3:c.1697C>G MANE Select	NP_001156907.2:p.Ala566Gly
NM_001163436.4:c.1697C>G	NP_001156908.2:p.Ala566Gly
NM_001163437.3:c.1580C>G	NP_001156909.2:p.Ala527Gly
NM_001290768.2:c.1181C>G	NP_001277697.2:p.Ala394Gly
NM_033115.5:c.1508C>G	NP_149106.3:p.Ala503Gly