Canonical Allele Identifier: CA357821872

Gene: TBCK

Linked Data

• MyVariant Identifiers: chr4:g.107151547A>T (hg19) ; chr4:g.106230390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106230390A>T , CM000666.2:g.106230390A>T	GRCh38
NC_000004.11:g.107151547A>T , CM000666.1:g.107151547A>T	GRCh37
NC_000004.10:g.107370996A>T	NCBI36
NG_034057.2:g.96106T>A
NG_034057.3:g.91294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1747T>A	ENSP00000273980.4:p.Leu583Ile
ENST00000394708.7:c.1747T>A MANE Select	ENSP00000378198.2:p.Leu583Ile
ENST00000273980.9:c.1747T>A	ENSP00000273980.4:p.Leu583Ile
ENST00000361687.8:c.1558T>A	ENSP00000355338.4:p.Leu520Ile
ENST00000394706.7:c.1630T>A	ENSP00000378196.3:p.Leu544Ile
ENST00000394708.6:c.1747T>A	ENSP00000378198.2:p.Leu583Ile
ENST00000432496.6:c.1747T>A	ENSP00000405847.2:p.Leu583Ile
ENST00000467183.6:c.*1386T>A	ENSP00000421182.1:n.*1386T>A
ENST00000506615.1:n.57T>A
ENST00000510927.5:n.1400T>A
NM_001163435.2:c.1747T>A	NP_001156907.1:p.Leu583Ile
NM_001163436.2:c.1747T>A	NP_001156908.1:p.Leu583Ile
NM_001163437.2:c.1630T>A	NP_001156909.1:p.Leu544Ile
NM_001290768.1:c.1231T>A	NP_001277697.1:p.Leu411Ile
NM_033115.4:c.1558T>A	NP_149106.2:p.Leu520Ile
XM_006714419.2:c.1747T>A	XP_006714482.1:p.Leu583Ile
XM_011532417.1:c.1747T>A	XP_011530719.1:p.Leu583Ile
XM_011532418.1:c.1429T>A	XP_011530720.1:p.Leu477Ile
XM_011532419.1:c.1231T>A	XP_011530721.1:p.Leu411Ile
XR_938800.1:n.1776T>A
XM_011532417.2:c.1747T>A	XP_011530719.1:p.Leu583Ile
XM_017008846.1:c.1747T>A	XP_016864335.1:p.Leu583Ile
XM_017008847.2:c.1747T>A	XP_016864336.1:p.Leu583Ile
XM_017008848.1:c.1429T>A	XP_016864337.1:p.Leu477Ile
XM_017008849.1:c.1231T>A	XP_016864338.1:p.Leu411Ile
XM_024454281.1:c.1747T>A	XP_024310049.1:p.Leu583Ile
XM_024454282.1:c.1747T>A	XP_024310050.1:p.Leu583Ile
XR_001741353.2:n.2087T>A
XR_001741354.2:n.1684T>A
XR_002959772.1:n.1871T>A
XR_938800.3:n.2087T>A
NM_001163435.3:c.1747T>A MANE Select	NP_001156907.2:p.Leu583Ile
NM_001163436.4:c.1747T>A	NP_001156908.2:p.Leu583Ile
NM_001163437.3:c.1630T>A	NP_001156909.2:p.Leu544Ile
NM_001290768.2:c.1231T>A	NP_001277697.2:p.Leu411Ile
NM_033115.5:c.1558T>A	NP_149106.3:p.Leu520Ile