Canonical Allele Identifier: CA357822987

Gene: TBCK

Linked Data

• MyVariant Identifiers: chr4:g.107156476T>G (hg19) ; chr4:g.106235319T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235319T>G , CM000666.2:g.106235319T>G	GRCh38
NC_000004.11:g.107156476T>G , CM000666.1:g.107156476T>G	GRCh37
NC_000004.10:g.107375925T>G	NCBI36
NG_034057.2:g.91177A>C
NG_034057.3:g.86365A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1399A>C	ENSP00000273980.4:p.Ile467Leu
ENST00000394708.7:c.1399A>C MANE Select	ENSP00000378198.2:p.Ile467Leu
ENST00000273980.9:c.1399A>C	ENSP00000273980.4:p.Ile467Leu
ENST00000361687.8:c.1210A>C	ENSP00000355338.4:p.Ile404Leu
ENST00000394706.7:c.1282A>C	ENSP00000378196.3:p.Ile428Leu
ENST00000394708.6:c.1399A>C	ENSP00000378198.2:p.Ile467Leu
ENST00000432496.6:c.1399A>C	ENSP00000405847.2:p.Ile467Leu
ENST00000467183.6:c.*1038A>C	ENSP00000421182.1:n.*1038A>C
ENST00000503516.1:c.-12A>C	ENSP00000423834.1:n.-12A>C
ENST00000508666.5:c.663A>C
ENST00000510927.5:n.1052A>C
NM_001163435.2:c.1399A>C	NP_001156907.1:p.Ile467Leu
NM_001163436.2:c.1399A>C	NP_001156908.1:p.Ile467Leu
NM_001163437.2:c.1282A>C	NP_001156909.1:p.Ile428Leu
NM_001290768.1:c.883A>C	NP_001277697.1:p.Ile295Leu
NM_033115.4:c.1210A>C	NP_149106.2:p.Ile404Leu
XM_006714419.2:c.1399A>C	XP_006714482.1:p.Ile467Leu
XM_011532417.1:c.1399A>C	XP_011530719.1:p.Ile467Leu
XM_011532418.1:c.1081A>C	XP_011530720.1:p.Ile361Leu
XM_011532419.1:c.883A>C	XP_011530721.1:p.Ile295Leu
XR_938800.1:n.1428A>C
XM_011532417.2:c.1399A>C	XP_011530719.1:p.Ile467Leu
XM_017008846.1:c.1399A>C	XP_016864335.1:p.Ile467Leu
XM_017008847.2:c.1399A>C	XP_016864336.1:p.Ile467Leu
XM_017008848.1:c.1081A>C	XP_016864337.1:p.Ile361Leu
XM_017008849.1:c.883A>C	XP_016864338.1:p.Ile295Leu
XM_024454281.1:c.1399A>C	XP_024310049.1:p.Ile467Leu
XM_024454282.1:c.1399A>C	XP_024310050.1:p.Ile467Leu
XR_001741353.2:n.1739A>C
XR_001741354.2:n.1336A>C
XR_002959772.1:n.1523A>C
XR_938800.3:n.1739A>C
NM_001163435.3:c.1399A>C MANE Select	NP_001156907.2:p.Ile467Leu
NM_001163436.4:c.1399A>C	NP_001156908.2:p.Ile467Leu
NM_001163437.3:c.1282A>C	NP_001156909.2:p.Ile428Leu
NM_001290768.2:c.883A>C	NP_001277697.2:p.Ile295Leu
NM_033115.5:c.1210A>C	NP_149106.3:p.Ile404Leu