Canonical Allele Identifier: CA3035206

Gene: TBCK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106242616T>C , CM000666.2:g.106242616T>C	GRCh38
NC_000004.11:g.107163773T>C , CM000666.1:g.107163773T>C	GRCh37
NC_000004.10:g.107383222T>C	NCBI36
NG_034057.2:g.83880A>G
NG_034057.3:g.79068A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001163435.3:c.1071-47A>G MANE Select	NP_001156907.2:n.1071-47A>G
ENST00000394708.7:c.1071-47A>G MANE Select	ENSP00000378198.2:n.1071-47A>G
NM_001163435.2:c.1071-47A>G	NP_001156907.1:n.1071-47A>G
NM_001163436.2:c.1071-47A>G	NP_001156908.1:n.1071-47A>G
NM_001163436.4:c.1071-47A>G	NP_001156908.2:n.1071-47A>G
NM_001163437.2:c.954-47A>G	NP_001156909.1:n.954-47A>G
NM_001163437.3:c.954-47A>G	NP_001156909.2:n.954-47A>G
NM_001290768.1:c.555-47A>G	NP_001277697.1:n.555-47A>G
NM_001290768.2:c.555-47A>G	NP_001277697.2:n.555-47A>G
NM_033115.4:c.882-47A>G	NP_149106.2:n.882-47A>G
NM_033115.5:c.882-47A>G	NP_149106.3:n.882-47A>G
ENST00000273980.10:c.1071-47A>G	ENSP00000273980.4:n.1071-47A>G
ENST00000273980.9:c.1071-47A>G	ENSP00000273980.4:n.1071-47A>G
ENST00000361687.8:c.882-47A>G	ENSP00000355338.4:n.882-47A>G
ENST00000394706.7:c.954-47A>G	ENSP00000378196.3:n.954-47A>G
ENST00000394708.6:c.1071-47A>G	ENSP00000378198.2:n.1071-47A>G
ENST00000432496.6:c.1071-47A>G	ENSP00000405847.2:n.1071-47A>G
ENST00000467183.6:c.*710-47A>G	ENSP00000421182.1:n.*710-47A>G
ENST00000508666.5:c.287-47A>G
ENST00000510927.5:n.724-47A>G
XM_006714419.2:c.1071-47A>G	XP_006714482.1:n.1071-47A>G
XM_011532417.1:c.1071-47A>G	XP_011530719.1:n.1071-47A>G
XM_011532417.2:c.1071-47A>G	XP_011530719.1:n.1071-47A>G
XM_011532418.1:c.753-47A>G	XP_011530720.1:n.753-47A>G
XM_011532419.1:c.555-47A>G	XP_011530721.1:n.555-47A>G
XM_017008846.1:c.1071-47A>G	XP_016864335.1:n.1071-47A>G
XM_017008847.2:c.1071-47A>G	XP_016864336.1:n.1071-47A>G
XM_017008848.1:c.753-47A>G	XP_016864337.1:n.753-47A>G
XM_017008849.1:c.555-47A>G	XP_016864338.1:n.555-47A>G
XM_024454281.1:c.1071-47A>G	XP_024310049.1:n.1071-47A>G
XM_024454282.1:c.1071-47A>G	XP_024310050.1:n.1071-47A>G
XR_001741353.2:n.1411-47A>G
XR_001741354.2:n.1008-47A>G
XR_002959772.1:n.1195-47A>G
XR_938800.1:n.1100-47A>G
XR_938800.3:n.1411-47A>G