Canonical Allele Identifier: CA401633669

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925052-C-A
• MyVariant Identifiers: chr17:g.80882928C>A (hg19) ; chr17:g.82925052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925052C>A , CM000679.2:g.82925052C>A	GRCh38
NC_000017.10:g.80882928C>A , CM000679.1:g.80882928C>A	GRCh37
NC_000017.9:g.78476217C>A	NCBI36
NG_011721.1:g.177989C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1582C>A
ENST00000576677.6:n.1503C>A
ENST00000681983.1:n.2510C>A
ENST00000682099.1:n.1271C>A
ENST00000682213.1:c.*345C>A	ENSP00000508166.1:n.*345C>A
ENST00000682315.1:c.688C>A	ENSP00000507232.1:p.Gln230Lys
ENST00000682479.1:c.2464C>A	ENSP00000508214.1:p.Gln822Lys
ENST00000682610.1:n.1614C>A
ENST00000682654.1:c.*345C>A	ENSP00000507412.1:n.*345C>A
ENST00000682722.1:c.2323C>A	ENSP00000508364.1:p.Gln775Lys
ENST00000683041.1:c.*345C>A	ENSP00000506994.1:n.*345C>A
ENST00000683184.1:c.*2027C>A	ENSP00000507757.1:n.*2027C>A
ENST00000683282.1:c.2290C>A	ENSP00000506913.1:p.Gln764Lys
ENST00000683444.1:c.*1951C>A	ENSP00000507553.1:n.*1951C>A
ENST00000683584.1:n.1197C>A
ENST00000683821.1:c.688C>A	ENSP00000507651.1:p.Gln230Lys
ENST00000683839.1:n.1828C>A
ENST00000684000.1:c.2458C>A	ENSP00000506795.1:p.Gln820Lys
ENST00000684188.1:c.2185C>A	ENSP00000507153.1:p.Gln729Lys
ENST00000684349.1:c.2560C>A	ENSP00000508067.1:p.Gln854Lys
ENST00000684361.1:c.2374C>A	ENSP00000507364.1:p.Gln792Lys
ENST00000684408.1:c.2017C>A	ENSP00000506837.1:p.Gln673Lys
ENST00000684429.1:c.2302C>A	ENSP00000507224.1:p.Gln768Lys
ENST00000684464.1:c.2467C>A	ENSP00000508333.1:p.Gln823Lys
ENST00000684544.1:c.2293C>A	ENSP00000507337.1:p.Gln765Lys
ENST00000684559.1:n.1129C>A
ENST00000684760.1:c.2641C>A	ENSP00000507696.1:p.Gln881Lys
ENST00000684776.1:c.*857C>A	ENSP00000507861.1:n.*857C>A
ENST00000355528.9:c.2374C>A MANE Select	ENSP00000347719.4:p.Gln792Lys
ENST00000355528.8:c.2374C>A	ENSP00000347719.4:p.Gln792Lys
ENST00000539345.6:c.2374C>A	ENSP00000440671.2:p.Gln792Lys
ENST00000571618.5:n.552C>A
ENST00000571796.5:n.1032C>A
ENST00000574422.1:c.688C>A	ENSP00000458599.1:p.Gln230Lys
ENST00000574818.5:n.432C>A
ENST00000574886.1:n.758C>A
ENST00000574975.5:c.751C>A	ENSP00000461680.1:p.Gln251Lys
ENST00000576760.5:c.688C>A	ENSP00000460949.1:p.Gln230Lys
NM_005993.4:c.2374C>A	NP_005984.3:p.Gln792Lys
XM_005256396.3:c.2323C>A	XP_005256453.1:p.Gln775Lys
XM_005256399.3:c.1090C>A	XP_005256456.1:p.Gln364Lys
XM_005256400.3:c.688C>A	XP_005256457.1:p.Gln230Lys
XM_005256401.3:c.688C>A	XP_005256458.1:p.Gln230Lys
XM_005256402.3:c.688C>A	XP_005256459.1:p.Gln230Lys
XM_005256403.3:c.688C>A	XP_005256460.1:p.Gln230Lys
XM_005256404.3:c.688C>A	XP_005256461.1:p.Gln230Lys
XM_006722290.2:c.2293C>A	XP_006722353.1:p.Gln765Lys
XM_006722291.2:c.1078C>A	XP_006722354.1:p.Gln360Lys
XM_006722292.2:c.688C>A	XP_006722355.1:p.Gln230Lys
XM_011523589.1:c.2029C>A	XP_011521891.1:p.Gln677Lys
XM_011523590.1:c.2017C>A	XP_011521892.1:p.Gln673Lys
XM_011523591.1:c.2014C>A	XP_011521893.1:p.Gln672Lys
XM_011523592.1:c.1927C>A	XP_011521894.1:p.Gln643Lys
XM_011523593.1:c.1621C>A	XP_011521895.1:p.Gln541Lys
XM_011523594.1:c.1102C>A	XP_011521896.1:p.Gln368Lys
XM_011523595.1:c.1069C>A	XP_011521897.1:p.Gln357Lys
XM_011523597.1:c.835C>A	XP_011521899.1:p.Gln279Lys
XM_011523598.1:c.832C>A	XP_011521900.1:p.Gln278Lys
XM_011523599.1:c.826C>A	XP_011521901.1:p.Gln276Lys
XM_011523600.1:c.688C>A	XP_011521902.1:p.Gln230Lys
XR_430033.2:n.2482C>A
XM_005256396.4:c.2323C>A	XP_005256453.1:p.Gln775Lys
XM_005256399.5:c.1090C>A	XP_005256456.1:p.Gln364Lys
XM_005256404.4:c.688C>A	XP_005256461.1:p.Gln230Lys
XM_006722291.4:c.1078C>A	XP_006722354.1:p.Gln360Lys
XM_006722292.3:c.688C>A	XP_006722355.1:p.Gln230Lys
XM_011523589.2:c.2029C>A	XP_011521891.1:p.Gln677Lys
XM_011523591.2:c.2014C>A	XP_011521893.1:p.Gln672Lys
XM_011523593.2:c.1621C>A	XP_011521895.1:p.Gln541Lys
XM_011523594.2:c.1102C>A	XP_011521896.1:p.Gln368Lys
XM_011523595.3:c.1069C>A	XP_011521897.1:p.Gln357Lys
XM_011523597.2:c.835C>A	XP_011521899.1:p.Gln279Lys
XM_011523599.2:c.826C>A	XP_011521901.1:p.Gln276Lys
XM_011523600.3:c.688C>A	XP_011521902.1:p.Gln230Lys
XM_017024987.1:c.2185C>A	XP_016880476.1:p.Gln729Lys
XM_017024989.1:c.736C>A	XP_016880478.1:p.Gln246Lys
XM_017024990.2:c.688C>A	XP_016880479.1:p.Gln230Lys
XM_024450899.1:c.688C>A	XP_024306667.1:p.Gln230Lys
XM_024450900.1:c.688C>A	XP_024306668.1:p.Gln230Lys
XM_024450901.1:c.688C>A	XP_024306669.1:p.Gln230Lys
XM_024450902.1:c.688C>A	XP_024306670.1:p.Gln230Lys
XR_001752597.1:n.2482C>A
XR_001752598.1:n.2482C>A
XR_001752599.1:n.2482C>A
XR_001752600.1:n.2400C>A
NM_005993.5:c.2374C>A MANE Select	NP_005984.3:p.Gln792Lys