Canonical Allele Identifier: CA357821828

Gene: TBCK

Linked Data

• gnomAD v4: 4-106230372-C-A
• MyVariant Identifiers: chr4:g.107151529C>A (hg19) ; chr4:g.106230372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106230372C>A , CM000666.2:g.106230372C>A	GRCh38
NC_000004.11:g.107151529C>A , CM000666.1:g.107151529C>A	GRCh37
NC_000004.10:g.107370978C>A	NCBI36
NG_034057.2:g.96124G>T
NG_034057.3:g.91312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1765G>T	ENSP00000273980.4:p.Val589Leu
ENST00000394708.7:c.1765G>T MANE Select	ENSP00000378198.2:p.Val589Leu
ENST00000273980.9:c.1765G>T	ENSP00000273980.4:p.Val589Leu
ENST00000361687.8:c.1576G>T	ENSP00000355338.4:p.Val526Leu
ENST00000394706.7:c.1648G>T	ENSP00000378196.3:p.Val550Leu
ENST00000394708.6:c.1765G>T	ENSP00000378198.2:p.Val589Leu
ENST00000432496.6:c.1765G>T	ENSP00000405847.2:p.Val589Leu
ENST00000467183.6:c.*1404G>T	ENSP00000421182.1:n.*1404G>T
ENST00000506615.1:n.75G>T
ENST00000510927.5:n.1418G>T
NM_001163435.2:c.1765G>T	NP_001156907.1:p.Val589Leu
NM_001163436.2:c.1765G>T	NP_001156908.1:p.Val589Leu
NM_001163437.2:c.1648G>T	NP_001156909.1:p.Val550Leu
NM_001290768.1:c.1249G>T	NP_001277697.1:p.Val417Leu
NM_033115.4:c.1576G>T	NP_149106.2:p.Val526Leu
XM_006714419.2:c.1765G>T	XP_006714482.1:p.Val589Leu
XM_011532417.1:c.1765G>T	XP_011530719.1:p.Val589Leu
XM_011532418.1:c.1447G>T	XP_011530720.1:p.Val483Leu
XM_011532419.1:c.1249G>T	XP_011530721.1:p.Val417Leu
XR_938800.1:n.1794G>T
XM_011532417.2:c.1765G>T	XP_011530719.1:p.Val589Leu
XM_017008846.1:c.1765G>T	XP_016864335.1:p.Val589Leu
XM_017008847.2:c.1765G>T	XP_016864336.1:p.Val589Leu
XM_017008848.1:c.1447G>T	XP_016864337.1:p.Val483Leu
XM_017008849.1:c.1249G>T	XP_016864338.1:p.Val417Leu
XM_024454281.1:c.1765G>T	XP_024310049.1:p.Val589Leu
XM_024454282.1:c.1765G>T	XP_024310050.1:p.Val589Leu
XR_001741353.2:n.2105G>T
XR_001741354.2:n.1702G>T
XR_002959772.1:n.1889G>T
XR_938800.3:n.2105G>T
NM_001163435.3:c.1765G>T MANE Select	NP_001156907.2:p.Val589Leu
NM_001163436.4:c.1765G>T	NP_001156908.2:p.Val589Leu
NM_001163437.3:c.1648G>T	NP_001156909.2:p.Val550Leu
NM_001290768.2:c.1249G>T	NP_001277697.2:p.Val417Leu
NM_033115.5:c.1576G>T	NP_149106.3:p.Val526Leu