Canonical Allele Identifier: CA401633280

Gene: TBCD

Linked Data

• dbSNP Id: rs1286145290
• gnomAD v2: 17-80882829-C-G
• gnomAD v4: 17-82924953-C-G
• MyVariant Identifiers: chr17:g.80882829C>G (hg19) ; chr17:g.82924953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924953C>G , CM000679.2:g.82924953C>G	GRCh38
NC_000017.10:g.80882829C>G , CM000679.1:g.80882829C>G	GRCh37
NC_000017.9:g.78476118C>G	NCBI36
NG_011721.1:g.177890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1483C>G
ENST00000576677.6:n.1404C>G
ENST00000681983.1:n.2411C>G
ENST00000682099.1:n.1172C>G
ENST00000682213.1:c.*246C>G	ENSP00000508166.1:n.*246C>G
ENST00000682315.1:c.589C>G	ENSP00000507232.1:p.Gln197Glu
ENST00000682479.1:c.2365C>G	ENSP00000508214.1:p.Gln789Glu
ENST00000682610.1:n.1515C>G
ENST00000682654.1:c.*246C>G	ENSP00000507412.1:n.*246C>G
ENST00000682722.1:c.2224C>G	ENSP00000508364.1:p.Gln742Glu
ENST00000683041.1:c.*246C>G	ENSP00000506994.1:n.*246C>G
ENST00000683184.1:c.*1928C>G	ENSP00000507757.1:n.*1928C>G
ENST00000683282.1:c.2191C>G	ENSP00000506913.1:p.Gln731Glu
ENST00000683444.1:c.*1852C>G	ENSP00000507553.1:n.*1852C>G
ENST00000683584.1:n.1098C>G
ENST00000683821.1:c.589C>G	ENSP00000507651.1:p.Gln197Glu
ENST00000683839.1:n.1729C>G
ENST00000684000.1:c.2359C>G	ENSP00000506795.1:p.Gln787Glu
ENST00000684188.1:c.2086C>G	ENSP00000507153.1:p.Gln696Glu
ENST00000684349.1:c.2461C>G	ENSP00000508067.1:p.Gln821Glu
ENST00000684361.1:c.2275C>G	ENSP00000507364.1:p.Gln759Glu
ENST00000684408.1:c.1918C>G	ENSP00000506837.1:p.Gln640Glu
ENST00000684429.1:c.2203C>G	ENSP00000507224.1:p.Gln735Glu
ENST00000684464.1:c.2368C>G	ENSP00000508333.1:p.Gln790Glu
ENST00000684544.1:c.2194C>G	ENSP00000507337.1:p.Gln732Glu
ENST00000684559.1:n.1030C>G
ENST00000684760.1:c.2542C>G	ENSP00000507696.1:p.Gln848Glu
ENST00000684776.1:c.*758C>G	ENSP00000507861.1:n.*758C>G
ENST00000355528.9:c.2275C>G MANE Select	ENSP00000347719.4:p.Gln759Glu
ENST00000355528.8:c.2275C>G	ENSP00000347719.4:p.Gln759Glu
ENST00000539345.6:c.2275C>G	ENSP00000440671.2:p.Gln759Glu
ENST00000571618.5:n.453C>G
ENST00000571796.5:n.933C>G
ENST00000574422.1:c.589C>G	ENSP00000458599.1:p.Gln197Glu
ENST00000574818.5:n.333C>G
ENST00000574886.1:n.659C>G
ENST00000574975.5:c.652C>G	ENSP00000461680.1:p.Gln218Glu
ENST00000576760.5:c.589C>G	ENSP00000460949.1:p.Gln197Glu
NM_005993.4:c.2275C>G	NP_005984.3:p.Gln759Glu
XM_005256396.3:c.2224C>G	XP_005256453.1:p.Gln742Glu
XM_005256399.3:c.991C>G	XP_005256456.1:p.Gln331Glu
XM_005256400.3:c.589C>G	XP_005256457.1:p.Gln197Glu
XM_005256401.3:c.589C>G	XP_005256458.1:p.Gln197Glu
XM_005256402.3:c.589C>G	XP_005256459.1:p.Gln197Glu
XM_005256403.3:c.589C>G	XP_005256460.1:p.Gln197Glu
XM_005256404.3:c.589C>G	XP_005256461.1:p.Gln197Glu
XM_006722290.2:c.2194C>G	XP_006722353.1:p.Gln732Glu
XM_006722291.2:c.979C>G	XP_006722354.1:p.Gln327Glu
XM_006722292.2:c.589C>G	XP_006722355.1:p.Gln197Glu
XM_011523589.1:c.1930C>G	XP_011521891.1:p.Gln644Glu
XM_011523590.1:c.1918C>G	XP_011521892.1:p.Gln640Glu
XM_011523591.1:c.1915C>G	XP_011521893.1:p.Gln639Glu
XM_011523592.1:c.1828C>G	XP_011521894.1:p.Gln610Glu
XM_011523593.1:c.1522C>G	XP_011521895.1:p.Gln508Glu
XM_011523594.1:c.1003C>G	XP_011521896.1:p.Gln335Glu
XM_011523595.1:c.970C>G	XP_011521897.1:p.Gln324Glu
XM_011523596.1:c.*6C>G	XP_011521898.1:n.*6C>G
XM_011523597.1:c.736C>G	XP_011521899.1:p.Gln246Glu
XM_011523598.1:c.733C>G	XP_011521900.1:p.Gln245Glu
XM_011523599.1:c.727C>G	XP_011521901.1:p.Gln243Glu
XM_011523600.1:c.589C>G	XP_011521902.1:p.Gln197Glu
XR_430033.2:n.2383C>G
XM_005256396.4:c.2224C>G	XP_005256453.1:p.Gln742Glu
XM_005256399.5:c.991C>G	XP_005256456.1:p.Gln331Glu
XM_005256404.4:c.589C>G	XP_005256461.1:p.Gln197Glu
XM_006722291.4:c.979C>G	XP_006722354.1:p.Gln327Glu
XM_006722292.3:c.589C>G	XP_006722355.1:p.Gln197Glu
XM_011523589.2:c.1930C>G	XP_011521891.1:p.Gln644Glu
XM_011523591.2:c.1915C>G	XP_011521893.1:p.Gln639Glu
XM_011523593.2:c.1522C>G	XP_011521895.1:p.Gln508Glu
XM_011523594.2:c.1003C>G	XP_011521896.1:p.Gln335Glu
XM_011523595.3:c.970C>G	XP_011521897.1:p.Gln324Glu
XM_011523597.2:c.736C>G	XP_011521899.1:p.Gln246Glu
XM_011523599.2:c.727C>G	XP_011521901.1:p.Gln243Glu
XM_011523600.3:c.589C>G	XP_011521902.1:p.Gln197Glu
XM_017024987.1:c.2086C>G	XP_016880476.1:p.Gln696Glu
XM_017024989.1:c.637C>G	XP_016880478.1:p.Gln213Glu
XM_017024990.2:c.589C>G	XP_016880479.1:p.Gln197Glu
XM_024450899.1:c.589C>G	XP_024306667.1:p.Gln197Glu
XM_024450900.1:c.589C>G	XP_024306668.1:p.Gln197Glu
XM_024450901.1:c.589C>G	XP_024306669.1:p.Gln197Glu
XM_024450902.1:c.589C>G	XP_024306670.1:p.Gln197Glu
XR_001752597.1:n.2383C>G
XR_001752598.1:n.2383C>G
XR_001752599.1:n.2383C>G
XR_001752600.1:n.2301C>G
NM_005993.5:c.2275C>G MANE Select	NP_005984.3:p.Gln759Glu