Canonical Allele Identifier: CA357822881

Gene: TBCK

Linked Data

• gnomAD v4: 4-106235268-C-A
• MyVariant Identifiers: chr4:g.107156425C>A (hg19) ; chr4:g.106235268C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235268C>A , CM000666.2:g.106235268C>A	GRCh38
NC_000004.11:g.107156425C>A , CM000666.1:g.107156425C>A	GRCh37
NC_000004.10:g.107375874C>A	NCBI36
NG_034057.2:g.91228G>T
NG_034057.3:g.86416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1449+1G>T	ENSP00000273980.4:n.1449+1G>T
ENST00000394708.7:c.1449+1G>T MANE Select	ENSP00000378198.2:n.1449+1G>T
ENST00000273980.9:c.1449+1G>T	ENSP00000273980.4:n.1449+1G>T
ENST00000361687.8:c.1260+1G>T	ENSP00000355338.4:n.1260+1G>T
ENST00000394706.7:c.1332+1G>T	ENSP00000378196.3:n.1332+1G>T
ENST00000394708.6:c.1449+1G>T	ENSP00000378198.2:n.1449+1G>T
ENST00000432496.6:c.1449+1G>T	ENSP00000405847.2:n.1449+1G>T
ENST00000467183.6:c.*1088+1G>T	ENSP00000421182.1:n.*1088+1G>T
ENST00000503516.1:c.39+1G>T	ENSP00000423834.1:n.39+1G>T
ENST00000508666.5:c.713+1G>T
ENST00000510927.5:n.1102+1G>T
NM_001163435.2:c.1449+1G>T	NP_001156907.1:n.1449+1G>T
NM_001163436.2:c.1449+1G>T	NP_001156908.1:n.1449+1G>T
NM_001163437.2:c.1332+1G>T	NP_001156909.1:n.1332+1G>T
NM_001290768.1:c.933+1G>T	NP_001277697.1:n.933+1G>T
NM_033115.4:c.1260+1G>T	NP_149106.2:n.1260+1G>T
XM_006714419.2:c.1449+1G>T	XP_006714482.1:n.1449+1G>T
XM_011532417.1:c.1449+1G>T	XP_011530719.1:n.1449+1G>T
XM_011532418.1:c.1131+1G>T	XP_011530720.1:n.1131+1G>T
XM_011532419.1:c.933+1G>T	XP_011530721.1:n.933+1G>T
XR_938800.1:n.1478+1G>T
XM_011532417.2:c.1449+1G>T	XP_011530719.1:n.1449+1G>T
XM_017008846.1:c.1449+1G>T	XP_016864335.1:n.1449+1G>T
XM_017008847.2:c.1449+1G>T	XP_016864336.1:n.1449+1G>T
XM_017008848.1:c.1131+1G>T	XP_016864337.1:n.1131+1G>T
XM_017008849.1:c.933+1G>T	XP_016864338.1:n.933+1G>T
XM_024454281.1:c.1449+1G>T	XP_024310049.1:n.1449+1G>T
XM_024454282.1:c.1449+1G>T	XP_024310050.1:n.1449+1G>T
XR_001741353.2:n.1789+1G>T
XR_001741354.2:n.1386+1G>T
XR_002959772.1:n.1573+1G>T
XR_938800.3:n.1789+1G>T
NM_001163435.3:c.1449+1G>T MANE Select	NP_001156907.2:n.1449+1G>T
NM_001163436.4:c.1449+1G>T	NP_001156908.2:n.1449+1G>T
NM_001163437.3:c.1332+1G>T	NP_001156909.2:n.1332+1G>T
NM_001290768.2:c.933+1G>T	NP_001277697.2:n.933+1G>T
NM_033115.5:c.1260+1G>T	NP_149106.3:n.1260+1G>T