Canonical Allele Identifier: CA401633255

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882817G>C (hg19) ; chr17:g.82924941G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1471G>C
ENST00000576677.6:n.1392G>C
ENST00000681983.1:n.2399G>C
ENST00000682099.1:n.1160G>C
ENST00000682213.1:c.*234G>C	ENSP00000508166.1:n.*234G>C
ENST00000682315.1:c.577G>C	ENSP00000507232.1:p.Glu193Gln
ENST00000682479.1:c.2353G>C	ENSP00000508214.1:p.Glu785Gln
ENST00000682610.1:n.1503G>C
ENST00000682654.1:c.*234G>C	ENSP00000507412.1:n.*234G>C
ENST00000682722.1:c.2212G>C	ENSP00000508364.1:p.Glu738Gln
ENST00000683041.1:c.*234G>C	ENSP00000506994.1:n.*234G>C
ENST00000683184.1:c.*1916G>C	ENSP00000507757.1:n.*1916G>C
ENST00000683282.1:c.2179G>C	ENSP00000506913.1:p.Glu727Gln
ENST00000683444.1:c.*1840G>C	ENSP00000507553.1:n.*1840G>C
ENST00000683584.1:n.1086G>C
ENST00000683821.1:c.577G>C	ENSP00000507651.1:p.Glu193Gln
ENST00000683839.1:n.1717G>C
ENST00000684000.1:c.2347G>C	ENSP00000506795.1:p.Glu783Gln
ENST00000684188.1:c.2074G>C	ENSP00000507153.1:p.Glu692Gln
ENST00000684349.1:c.2449G>C	ENSP00000508067.1:p.Glu817Gln
ENST00000684361.1:c.2263G>C	ENSP00000507364.1:p.Glu755Gln
ENST00000684408.1:c.1906G>C	ENSP00000506837.1:p.Glu636Gln
ENST00000684429.1:c.2191G>C	ENSP00000507224.1:p.Glu731Gln
ENST00000684464.1:c.2356G>C	ENSP00000508333.1:p.Glu786Gln
ENST00000684544.1:c.2182G>C	ENSP00000507337.1:p.Glu728Gln
ENST00000684559.1:n.1018G>C
ENST00000684760.1:c.2530G>C	ENSP00000507696.1:p.Glu844Gln
ENST00000684776.1:c.*746G>C	ENSP00000507861.1:n.*746G>C
ENST00000355528.9:c.2263G>C MANE Select	ENSP00000347719.4:p.Glu755Gln
ENST00000355528.8:c.2263G>C	ENSP00000347719.4:p.Glu755Gln
ENST00000539345.6:c.2263G>C	ENSP00000440671.2:p.Glu755Gln
ENST00000571618.5:n.441G>C
ENST00000571796.5:n.921G>C
ENST00000574422.1:c.577G>C	ENSP00000458599.1:p.Glu193Gln
ENST00000574818.5:n.321G>C
ENST00000574886.1:n.647G>C
ENST00000574975.5:c.640G>C	ENSP00000461680.1:p.Glu214Gln
ENST00000576760.5:c.577G>C	ENSP00000460949.1:p.Glu193Gln
NM_005993.4:c.2263G>C	NP_005984.3:p.Glu755Gln
XM_005256396.3:c.2212G>C	XP_005256453.1:p.Glu738Gln
XM_005256399.3:c.979G>C	XP_005256456.1:p.Glu327Gln
XM_005256400.3:c.577G>C	XP_005256457.1:p.Glu193Gln
XM_005256401.3:c.577G>C	XP_005256458.1:p.Glu193Gln
XM_005256402.3:c.577G>C	XP_005256459.1:p.Glu193Gln
XM_005256403.3:c.577G>C	XP_005256460.1:p.Glu193Gln
XM_005256404.3:c.577G>C	XP_005256461.1:p.Glu193Gln
XM_006722290.2:c.2182G>C	XP_006722353.1:p.Glu728Gln
XM_006722291.2:c.967G>C	XP_006722354.1:p.Glu323Gln
XM_006722292.2:c.577G>C	XP_006722355.1:p.Glu193Gln
XM_011523589.1:c.1918G>C	XP_011521891.1:p.Glu640Gln
XM_011523590.1:c.1906G>C	XP_011521892.1:p.Glu636Gln
XM_011523591.1:c.1903G>C	XP_011521893.1:p.Glu635Gln
XM_011523592.1:c.1816G>C	XP_011521894.1:p.Glu606Gln
XM_011523593.1:c.1510G>C	XP_011521895.1:p.Glu504Gln
XM_011523594.1:c.991G>C	XP_011521896.1:p.Glu331Gln
XM_011523595.1:c.958G>C	XP_011521897.1:p.Glu320Gln
XM_011523596.1:c.2181G>C	XP_011521898.1:p.Arg727Ser
XM_011523597.1:c.724G>C	XP_011521899.1:p.Glu242Gln
XM_011523598.1:c.721G>C	XP_011521900.1:p.Glu241Gln
XM_011523599.1:c.715G>C	XP_011521901.1:p.Glu239Gln
XM_011523600.1:c.577G>C	XP_011521902.1:p.Glu193Gln
XR_430033.2:n.2371G>C
XM_005256396.4:c.2212G>C	XP_005256453.1:p.Glu738Gln
XM_005256399.5:c.979G>C	XP_005256456.1:p.Glu327Gln
XM_005256404.4:c.577G>C	XP_005256461.1:p.Glu193Gln
XM_006722291.4:c.967G>C	XP_006722354.1:p.Glu323Gln
XM_006722292.3:c.577G>C	XP_006722355.1:p.Glu193Gln
XM_011523589.2:c.1918G>C	XP_011521891.1:p.Glu640Gln
XM_011523591.2:c.1903G>C	XP_011521893.1:p.Glu635Gln
XM_011523593.2:c.1510G>C	XP_011521895.1:p.Glu504Gln
XM_011523594.2:c.991G>C	XP_011521896.1:p.Glu331Gln
XM_011523595.3:c.958G>C	XP_011521897.1:p.Glu320Gln
XM_011523597.2:c.724G>C	XP_011521899.1:p.Glu242Gln
XM_011523599.2:c.715G>C	XP_011521901.1:p.Glu239Gln
XM_011523600.3:c.577G>C	XP_011521902.1:p.Glu193Gln
XM_017024987.1:c.2074G>C	XP_016880476.1:p.Glu692Gln
XM_017024989.1:c.625G>C	XP_016880478.1:p.Glu209Gln
XM_017024990.2:c.577G>C	XP_016880479.1:p.Glu193Gln
XM_024450899.1:c.577G>C	XP_024306667.1:p.Glu193Gln
XM_024450900.1:c.577G>C	XP_024306668.1:p.Glu193Gln
XM_024450901.1:c.577G>C	XP_024306669.1:p.Glu193Gln
XM_024450902.1:c.577G>C	XP_024306670.1:p.Glu193Gln
XR_001752597.1:n.2371G>C
XR_001752598.1:n.2371G>C
XR_001752599.1:n.2371G>C
XR_001752600.1:n.2289G>C
NM_005993.5:c.2263G>C MANE Select	NP_005984.3:p.Glu755Gln