Canonical Allele Identifier: CA102810503

Gene: TBCK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106194527T>C , CM000666.2:g.106194527T>C	GRCh38
NC_000004.11:g.107115684T>C , CM000666.1:g.107115684T>C	GRCh37
NC_000004.10:g.107335133T>C	NCBI36
NG_034057.2:g.131969A>G
NG_034057.3:g.127157A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001163435.3:c.1897+191A>G MANE Select	NP_001156907.2:n.1897+191A>G
ENST00000394708.7:c.1897+191A>G MANE Select	ENSP00000378198.2:n.1897+191A>G
NM_001163435.2:c.1897+191A>G	NP_001156907.1:n.1897+191A>G
NM_001163436.2:c.1897+191A>G	NP_001156908.1:n.1897+191A>G
NM_001163436.4:c.1897+191A>G	NP_001156908.2:n.1897+191A>G
NM_001163437.2:c.1780+191A>G	NP_001156909.1:n.1780+191A>G
NM_001163437.3:c.1780+191A>G	NP_001156909.2:n.1780+191A>G
NM_001290768.1:c.1381+191A>G	NP_001277697.1:n.1381+191A>G
NM_001290768.2:c.1381+191A>G	NP_001277697.2:n.1381+191A>G
NM_033115.4:c.1708+191A>G	NP_149106.2:n.1708+191A>G
NM_033115.5:c.1708+191A>G	NP_149106.3:n.1708+191A>G
ENST00000273980.10:c.1897+191A>G	ENSP00000273980.4:n.1897+191A>G
ENST00000273980.9:c.1897+191A>G	ENSP00000273980.4:n.1897+191A>G
ENST00000361687.8:c.1708+191A>G	ENSP00000355338.4:n.1708+191A>G
ENST00000394706.7:c.1780+191A>G	ENSP00000378196.3:n.1780+191A>G
ENST00000394708.6:c.1897+191A>G	ENSP00000378198.2:n.1897+191A>G
ENST00000432496.6:c.1897+191A>G	ENSP00000405847.2:n.1897+191A>G
ENST00000467183.6:c.*1536+191A>G	ENSP00000421182.1:n.*1536+191A>G
ENST00000506615.1:n.171-757A>G
ENST00000510927.5:n.1550+191A>G
ENST00000511011.5:n.368+191A>G
ENST00000514689.5:n.190-757A>G
ENST00000515705.5:n.194+191A>G
XM_006714419.2:c.1897+191A>G	XP_006714482.1:n.1897+191A>G
XM_011532417.1:c.1897+191A>G	XP_011530719.1:n.1897+191A>G
XM_011532417.2:c.1897+191A>G	XP_011530719.1:n.1897+191A>G
XM_011532418.1:c.1579+191A>G	XP_011530720.1:n.1579+191A>G
XM_011532419.1:c.1381+191A>G	XP_011530721.1:n.1381+191A>G
XM_017008846.1:c.1897+191A>G	XP_016864335.1:n.1897+191A>G
XM_017008847.2:c.1897+191A>G	XP_016864336.1:n.1897+191A>G
XM_017008848.1:c.1579+191A>G	XP_016864337.1:n.1579+191A>G
XM_017008849.1:c.1381+191A>G	XP_016864338.1:n.1381+191A>G
XM_024454281.1:c.1897+191A>G	XP_024310049.1:n.1897+191A>G
XM_024454282.1:c.1897+191A>G	XP_024310050.1:n.1897+191A>G
XR_001741353.2:n.2237+191A>G
XR_001741354.2:n.1798-757A>G
XR_002959772.1:n.2021+191A>G
XR_938800.1:n.1926+191A>G
XR_938800.3:n.2237+191A>G