Canonical Allele Identifier: CA357823097

Gene: TBCK

Linked Data

• gnomAD v4: 4-106235367-C-T
• MyVariant Identifiers: chr4:g.107156524C>T (hg19) ; chr4:g.106235367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235367C>T , CM000666.2:g.106235367C>T	GRCh38
NC_000004.11:g.107156524C>T , CM000666.1:g.107156524C>T	GRCh37
NC_000004.10:g.107375973C>T	NCBI36
NG_034057.2:g.91129G>A
NG_034057.3:g.86317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1351G>A	ENSP00000273980.4:p.Ala451Thr
ENST00000394708.7:c.1351G>A MANE Select	ENSP00000378198.2:p.Ala451Thr
ENST00000273980.9:c.1351G>A	ENSP00000273980.4:p.Ala451Thr
ENST00000361687.8:c.1162G>A	ENSP00000355338.4:p.Ala388Thr
ENST00000394706.7:c.1234G>A	ENSP00000378196.3:p.Ala412Thr
ENST00000394708.6:c.1351G>A	ENSP00000378198.2:p.Ala451Thr
ENST00000432496.6:c.1351G>A	ENSP00000405847.2:p.Ala451Thr
ENST00000467183.6:c.*990G>A	ENSP00000421182.1:n.*990G>A
ENST00000503516.1:c.-60G>A	ENSP00000423834.1:n.-60G>A
ENST00000508666.5:c.615G>A
ENST00000510927.5:n.1004G>A
NM_001163435.2:c.1351G>A	NP_001156907.1:p.Ala451Thr
NM_001163436.2:c.1351G>A	NP_001156908.1:p.Ala451Thr
NM_001163437.2:c.1234G>A	NP_001156909.1:p.Ala412Thr
NM_001290768.1:c.835G>A	NP_001277697.1:p.Ala279Thr
NM_033115.4:c.1162G>A	NP_149106.2:p.Ala388Thr
XM_006714419.2:c.1351G>A	XP_006714482.1:p.Ala451Thr
XM_011532417.1:c.1351G>A	XP_011530719.1:p.Ala451Thr
XM_011532418.1:c.1033G>A	XP_011530720.1:p.Ala345Thr
XM_011532419.1:c.835G>A	XP_011530721.1:p.Ala279Thr
XR_938800.1:n.1380G>A
XM_011532417.2:c.1351G>A	XP_011530719.1:p.Ala451Thr
XM_017008846.1:c.1351G>A	XP_016864335.1:p.Ala451Thr
XM_017008847.2:c.1351G>A	XP_016864336.1:p.Ala451Thr
XM_017008848.1:c.1033G>A	XP_016864337.1:p.Ala345Thr
XM_017008849.1:c.835G>A	XP_016864338.1:p.Ala279Thr
XM_024454281.1:c.1351G>A	XP_024310049.1:p.Ala451Thr
XM_024454282.1:c.1351G>A	XP_024310050.1:p.Ala451Thr
XR_001741353.2:n.1691G>A
XR_001741354.2:n.1288G>A
XR_002959772.1:n.1475G>A
XR_938800.3:n.1691G>A
NM_001163435.3:c.1351G>A MANE Select	NP_001156907.2:p.Ala451Thr
NM_001163436.4:c.1351G>A	NP_001156908.2:p.Ala451Thr
NM_001163437.3:c.1234G>A	NP_001156909.2:p.Ala412Thr
NM_001290768.2:c.835G>A	NP_001277697.2:p.Ala279Thr
NM_033115.5:c.1162G>A	NP_149106.3:p.Ala388Thr