Canonical Allele Identifier: CA401633256

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924941-G-T
• MyVariant Identifiers: chr17:g.80882817G>T (hg19) ; chr17:g.82924941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924941G>T , CM000679.2:g.82924941G>T	GRCh38
NC_000017.10:g.80882817G>T , CM000679.1:g.80882817G>T	GRCh37
NC_000017.9:g.78476106G>T	NCBI36
NG_011721.1:g.177878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1471G>T
ENST00000576677.6:n.1392G>T
ENST00000681983.1:n.2399G>T
ENST00000682099.1:n.1160G>T
ENST00000682213.1:c.*234G>T	ENSP00000508166.1:n.*234G>T
ENST00000682315.1:c.577G>T	ENSP00000507232.1:p.Glu193Ter
ENST00000682479.1:c.2353G>T	ENSP00000508214.1:p.Glu785Ter
ENST00000682610.1:n.1503G>T
ENST00000682654.1:c.*234G>T	ENSP00000507412.1:n.*234G>T
ENST00000682722.1:c.2212G>T	ENSP00000508364.1:p.Glu738Ter
ENST00000683041.1:c.*234G>T	ENSP00000506994.1:n.*234G>T
ENST00000683184.1:c.*1916G>T	ENSP00000507757.1:n.*1916G>T
ENST00000683282.1:c.2179G>T	ENSP00000506913.1:p.Glu727Ter
ENST00000683444.1:c.*1840G>T	ENSP00000507553.1:n.*1840G>T
ENST00000683584.1:n.1086G>T
ENST00000683821.1:c.577G>T	ENSP00000507651.1:p.Glu193Ter
ENST00000683839.1:n.1717G>T
ENST00000684000.1:c.2347G>T	ENSP00000506795.1:p.Glu783Ter
ENST00000684188.1:c.2074G>T	ENSP00000507153.1:p.Glu692Ter
ENST00000684349.1:c.2449G>T	ENSP00000508067.1:p.Glu817Ter
ENST00000684361.1:c.2263G>T	ENSP00000507364.1:p.Glu755Ter
ENST00000684408.1:c.1906G>T	ENSP00000506837.1:p.Glu636Ter
ENST00000684429.1:c.2191G>T	ENSP00000507224.1:p.Glu731Ter
ENST00000684464.1:c.2356G>T	ENSP00000508333.1:p.Glu786Ter
ENST00000684544.1:c.2182G>T	ENSP00000507337.1:p.Glu728Ter
ENST00000684559.1:n.1018G>T
ENST00000684760.1:c.2530G>T	ENSP00000507696.1:p.Glu844Ter
ENST00000684776.1:c.*746G>T	ENSP00000507861.1:n.*746G>T
ENST00000355528.9:c.2263G>T MANE Select	ENSP00000347719.4:p.Glu755Ter
ENST00000355528.8:c.2263G>T	ENSP00000347719.4:p.Glu755Ter
ENST00000539345.6:c.2263G>T	ENSP00000440671.2:p.Glu755Ter
ENST00000571618.5:n.441G>T
ENST00000571796.5:n.921G>T
ENST00000574422.1:c.577G>T	ENSP00000458599.1:p.Glu193Ter
ENST00000574818.5:n.321G>T
ENST00000574886.1:n.647G>T
ENST00000574975.5:c.640G>T	ENSP00000461680.1:p.Glu214Ter
ENST00000576760.5:c.577G>T	ENSP00000460949.1:p.Glu193Ter
NM_005993.4:c.2263G>T	NP_005984.3:p.Glu755Ter
XM_005256396.3:c.2212G>T	XP_005256453.1:p.Glu738Ter
XM_005256399.3:c.979G>T	XP_005256456.1:p.Glu327Ter
XM_005256400.3:c.577G>T	XP_005256457.1:p.Glu193Ter
XM_005256401.3:c.577G>T	XP_005256458.1:p.Glu193Ter
XM_005256402.3:c.577G>T	XP_005256459.1:p.Glu193Ter
XM_005256403.3:c.577G>T	XP_005256460.1:p.Glu193Ter
XM_005256404.3:c.577G>T	XP_005256461.1:p.Glu193Ter
XM_006722290.2:c.2182G>T	XP_006722353.1:p.Glu728Ter
XM_006722291.2:c.967G>T	XP_006722354.1:p.Glu323Ter
XM_006722292.2:c.577G>T	XP_006722355.1:p.Glu193Ter
XM_011523589.1:c.1918G>T	XP_011521891.1:p.Glu640Ter
XM_011523590.1:c.1906G>T	XP_011521892.1:p.Glu636Ter
XM_011523591.1:c.1903G>T	XP_011521893.1:p.Glu635Ter
XM_011523592.1:c.1816G>T	XP_011521894.1:p.Glu606Ter
XM_011523593.1:c.1510G>T	XP_011521895.1:p.Glu504Ter
XM_011523594.1:c.991G>T	XP_011521896.1:p.Glu331Ter
XM_011523595.1:c.958G>T	XP_011521897.1:p.Glu320Ter
XM_011523596.1:c.2181G>T	XP_011521898.1:p.Arg727Ser
XM_011523597.1:c.724G>T	XP_011521899.1:p.Glu242Ter
XM_011523598.1:c.721G>T	XP_011521900.1:p.Glu241Ter
XM_011523599.1:c.715G>T	XP_011521901.1:p.Glu239Ter
XM_011523600.1:c.577G>T	XP_011521902.1:p.Glu193Ter
XR_430033.2:n.2371G>T
XM_005256396.4:c.2212G>T	XP_005256453.1:p.Glu738Ter
XM_005256399.5:c.979G>T	XP_005256456.1:p.Glu327Ter
XM_005256404.4:c.577G>T	XP_005256461.1:p.Glu193Ter
XM_006722291.4:c.967G>T	XP_006722354.1:p.Glu323Ter
XM_006722292.3:c.577G>T	XP_006722355.1:p.Glu193Ter
XM_011523589.2:c.1918G>T	XP_011521891.1:p.Glu640Ter
XM_011523591.2:c.1903G>T	XP_011521893.1:p.Glu635Ter
XM_011523593.2:c.1510G>T	XP_011521895.1:p.Glu504Ter
XM_011523594.2:c.991G>T	XP_011521896.1:p.Glu331Ter
XM_011523595.3:c.958G>T	XP_011521897.1:p.Glu320Ter
XM_011523597.2:c.724G>T	XP_011521899.1:p.Glu242Ter
XM_011523599.2:c.715G>T	XP_011521901.1:p.Glu239Ter
XM_011523600.3:c.577G>T	XP_011521902.1:p.Glu193Ter
XM_017024987.1:c.2074G>T	XP_016880476.1:p.Glu692Ter
XM_017024989.1:c.625G>T	XP_016880478.1:p.Glu209Ter
XM_017024990.2:c.577G>T	XP_016880479.1:p.Glu193Ter
XM_024450899.1:c.577G>T	XP_024306667.1:p.Glu193Ter
XM_024450900.1:c.577G>T	XP_024306668.1:p.Glu193Ter
XM_024450901.1:c.577G>T	XP_024306669.1:p.Glu193Ter
XM_024450902.1:c.577G>T	XP_024306670.1:p.Glu193Ter
XR_001752597.1:n.2371G>T
XR_001752598.1:n.2371G>T
XR_001752599.1:n.2371G>T
XR_001752600.1:n.2289G>T
NM_005993.5:c.2263G>T MANE Select	NP_005984.3:p.Glu755Ter