Canonical Allele Identifier: CA401633285

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924955-G-T
• MyVariant Identifiers: chr17:g.80882831G>T (hg19) ; chr17:g.82924955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924955G>T , CM000679.2:g.82924955G>T	GRCh38
NC_000017.10:g.80882831G>T , CM000679.1:g.80882831G>T	GRCh37
NC_000017.9:g.78476120G>T	NCBI36
NG_011721.1:g.177892G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1485G>T
ENST00000576677.6:n.1406G>T
ENST00000681983.1:n.2413G>T
ENST00000682099.1:n.1174G>T
ENST00000682213.1:c.*248G>T	ENSP00000508166.1:n.*248G>T
ENST00000682315.1:c.591G>T	ENSP00000507232.1:p.Gln197His
ENST00000682479.1:c.2367G>T	ENSP00000508214.1:p.Gln789His
ENST00000682610.1:n.1517G>T
ENST00000682654.1:c.*248G>T	ENSP00000507412.1:n.*248G>T
ENST00000682722.1:c.2226G>T	ENSP00000508364.1:p.Gln742His
ENST00000683041.1:c.*248G>T	ENSP00000506994.1:n.*248G>T
ENST00000683184.1:c.*1930G>T	ENSP00000507757.1:n.*1930G>T
ENST00000683282.1:c.2193G>T	ENSP00000506913.1:p.Gln731His
ENST00000683444.1:c.*1854G>T	ENSP00000507553.1:n.*1854G>T
ENST00000683584.1:n.1100G>T
ENST00000683821.1:c.591G>T	ENSP00000507651.1:p.Gln197His
ENST00000683839.1:n.1731G>T
ENST00000684000.1:c.2361G>T	ENSP00000506795.1:p.Gln787His
ENST00000684188.1:c.2088G>T	ENSP00000507153.1:p.Gln696His
ENST00000684349.1:c.2463G>T	ENSP00000508067.1:p.Gln821His
ENST00000684361.1:c.2277G>T	ENSP00000507364.1:p.Gln759His
ENST00000684408.1:c.1920G>T	ENSP00000506837.1:p.Gln640His
ENST00000684429.1:c.2205G>T	ENSP00000507224.1:p.Gln735His
ENST00000684464.1:c.2370G>T	ENSP00000508333.1:p.Gln790His
ENST00000684544.1:c.2196G>T	ENSP00000507337.1:p.Gln732His
ENST00000684559.1:n.1032G>T
ENST00000684760.1:c.2544G>T	ENSP00000507696.1:p.Gln848His
ENST00000684776.1:c.*760G>T	ENSP00000507861.1:n.*760G>T
ENST00000355528.9:c.2277G>T MANE Select	ENSP00000347719.4:p.Gln759His
ENST00000355528.8:c.2277G>T	ENSP00000347719.4:p.Gln759His
ENST00000539345.6:c.2277G>T	ENSP00000440671.2:p.Gln759His
ENST00000571618.5:n.455G>T
ENST00000571796.5:n.935G>T
ENST00000574422.1:c.591G>T	ENSP00000458599.1:p.Gln197His
ENST00000574818.5:n.335G>T
ENST00000574886.1:n.661G>T
ENST00000574975.5:c.654G>T	ENSP00000461680.1:p.Gln218His
ENST00000576760.5:c.591G>T	ENSP00000460949.1:p.Gln197His
NM_005993.4:c.2277G>T	NP_005984.3:p.Gln759His
XM_005256396.3:c.2226G>T	XP_005256453.1:p.Gln742His
XM_005256399.3:c.993G>T	XP_005256456.1:p.Gln331His
XM_005256400.3:c.591G>T	XP_005256457.1:p.Gln197His
XM_005256401.3:c.591G>T	XP_005256458.1:p.Gln197His
XM_005256402.3:c.591G>T	XP_005256459.1:p.Gln197His
XM_005256403.3:c.591G>T	XP_005256460.1:p.Gln197His
XM_005256404.3:c.591G>T	XP_005256461.1:p.Gln197His
XM_006722290.2:c.2196G>T	XP_006722353.1:p.Gln732His
XM_006722291.2:c.981G>T	XP_006722354.1:p.Gln327His
XM_006722292.2:c.591G>T	XP_006722355.1:p.Gln197His
XM_011523589.1:c.1932G>T	XP_011521891.1:p.Gln644His
XM_011523590.1:c.1920G>T	XP_011521892.1:p.Gln640His
XM_011523591.1:c.1917G>T	XP_011521893.1:p.Gln639His
XM_011523592.1:c.1830G>T	XP_011521894.1:p.Gln610His
XM_011523593.1:c.1524G>T	XP_011521895.1:p.Gln508His
XM_011523594.1:c.1005G>T	XP_011521896.1:p.Gln335His
XM_011523595.1:c.972G>T	XP_011521897.1:p.Gln324His
XM_011523596.1:c.*8G>T	XP_011521898.1:n.*8G>T
XM_011523597.1:c.738G>T	XP_011521899.1:p.Gln246His
XM_011523598.1:c.735G>T	XP_011521900.1:p.Gln245His
XM_011523599.1:c.729G>T	XP_011521901.1:p.Gln243His
XM_011523600.1:c.591G>T	XP_011521902.1:p.Gln197His
XR_430033.2:n.2385G>T
XM_005256396.4:c.2226G>T	XP_005256453.1:p.Gln742His
XM_005256399.5:c.993G>T	XP_005256456.1:p.Gln331His
XM_005256404.4:c.591G>T	XP_005256461.1:p.Gln197His
XM_006722291.4:c.981G>T	XP_006722354.1:p.Gln327His
XM_006722292.3:c.591G>T	XP_006722355.1:p.Gln197His
XM_011523589.2:c.1932G>T	XP_011521891.1:p.Gln644His
XM_011523591.2:c.1917G>T	XP_011521893.1:p.Gln639His
XM_011523593.2:c.1524G>T	XP_011521895.1:p.Gln508His
XM_011523594.2:c.1005G>T	XP_011521896.1:p.Gln335His
XM_011523595.3:c.972G>T	XP_011521897.1:p.Gln324His
XM_011523597.2:c.738G>T	XP_011521899.1:p.Gln246His
XM_011523599.2:c.729G>T	XP_011521901.1:p.Gln243His
XM_011523600.3:c.591G>T	XP_011521902.1:p.Gln197His
XM_017024987.1:c.2088G>T	XP_016880476.1:p.Gln696His
XM_017024989.1:c.639G>T	XP_016880478.1:p.Gln213His
XM_017024990.2:c.591G>T	XP_016880479.1:p.Gln197His
XM_024450899.1:c.591G>T	XP_024306667.1:p.Gln197His
XM_024450900.1:c.591G>T	XP_024306668.1:p.Gln197His
XM_024450901.1:c.591G>T	XP_024306669.1:p.Gln197His
XM_024450902.1:c.591G>T	XP_024306670.1:p.Gln197His
XR_001752597.1:n.2385G>T
XR_001752598.1:n.2385G>T
XR_001752599.1:n.2385G>T
XR_001752600.1:n.2303G>T
NM_005993.5:c.2277G>T MANE Select	NP_005984.3:p.Gln759His