Canonical Allele Identifier: CA401633482

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925004-T-C
• MyVariant Identifiers: chr17:g.80882880T>C (hg19) ; chr17:g.82925004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925004T>C , CM000679.2:g.82925004T>C	GRCh38
NC_000017.10:g.80882880T>C , CM000679.1:g.80882880T>C	GRCh37
NC_000017.9:g.78476169T>C	NCBI36
NG_011721.1:g.177941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1534T>C
ENST00000576677.6:n.1455T>C
ENST00000681983.1:n.2462T>C
ENST00000682099.1:n.1223T>C
ENST00000682213.1:c.*297T>C	ENSP00000508166.1:n.*297T>C
ENST00000682315.1:c.640T>C	ENSP00000507232.1:p.Ser214Pro
ENST00000682479.1:c.2416T>C	ENSP00000508214.1:p.Ser806Pro
ENST00000682610.1:n.1566T>C
ENST00000682654.1:c.*297T>C	ENSP00000507412.1:n.*297T>C
ENST00000682722.1:c.2275T>C	ENSP00000508364.1:p.Ser759Pro
ENST00000683041.1:c.*297T>C	ENSP00000506994.1:n.*297T>C
ENST00000683184.1:c.*1979T>C	ENSP00000507757.1:n.*1979T>C
ENST00000683282.1:c.2242T>C	ENSP00000506913.1:p.Ser748Pro
ENST00000683444.1:c.*1903T>C	ENSP00000507553.1:n.*1903T>C
ENST00000683584.1:n.1149T>C
ENST00000683821.1:c.640T>C	ENSP00000507651.1:p.Ser214Pro
ENST00000683839.1:n.1780T>C
ENST00000684000.1:c.2410T>C	ENSP00000506795.1:p.Ser804Pro
ENST00000684188.1:c.2137T>C	ENSP00000507153.1:p.Ser713Pro
ENST00000684349.1:c.2512T>C	ENSP00000508067.1:p.Ser838Pro
ENST00000684361.1:c.2326T>C	ENSP00000507364.1:p.Ser776Pro
ENST00000684408.1:c.1969T>C	ENSP00000506837.1:p.Ser657Pro
ENST00000684429.1:c.2254T>C	ENSP00000507224.1:p.Ser752Pro
ENST00000684464.1:c.2419T>C	ENSP00000508333.1:p.Ser807Pro
ENST00000684544.1:c.2245T>C	ENSP00000507337.1:p.Ser749Pro
ENST00000684559.1:n.1081T>C
ENST00000684760.1:c.2593T>C	ENSP00000507696.1:p.Ser865Pro
ENST00000684776.1:c.*809T>C	ENSP00000507861.1:n.*809T>C
ENST00000355528.9:c.2326T>C MANE Select	ENSP00000347719.4:p.Ser776Pro
ENST00000355528.8:c.2326T>C	ENSP00000347719.4:p.Ser776Pro
ENST00000539345.6:c.2326T>C	ENSP00000440671.2:p.Ser776Pro
ENST00000571618.5:n.504T>C
ENST00000571796.5:n.984T>C
ENST00000574422.1:c.640T>C	ENSP00000458599.1:p.Ser214Pro
ENST00000574818.5:n.384T>C
ENST00000574886.1:n.710T>C
ENST00000574975.5:c.703T>C	ENSP00000461680.1:p.Ser235Pro
ENST00000576760.5:c.640T>C	ENSP00000460949.1:p.Ser214Pro
NM_005993.4:c.2326T>C	NP_005984.3:p.Ser776Pro
XM_005256396.3:c.2275T>C	XP_005256453.1:p.Ser759Pro
XM_005256399.3:c.1042T>C	XP_005256456.1:p.Ser348Pro
XM_005256400.3:c.640T>C	XP_005256457.1:p.Ser214Pro
XM_005256401.3:c.640T>C	XP_005256458.1:p.Ser214Pro
XM_005256402.3:c.640T>C	XP_005256459.1:p.Ser214Pro
XM_005256403.3:c.640T>C	XP_005256460.1:p.Ser214Pro
XM_005256404.3:c.640T>C	XP_005256461.1:p.Ser214Pro
XM_006722290.2:c.2245T>C	XP_006722353.1:p.Ser749Pro
XM_006722291.2:c.1030T>C	XP_006722354.1:p.Ser344Pro
XM_006722292.2:c.640T>C	XP_006722355.1:p.Ser214Pro
XM_011523589.1:c.1981T>C	XP_011521891.1:p.Ser661Pro
XM_011523590.1:c.1969T>C	XP_011521892.1:p.Ser657Pro
XM_011523591.1:c.1966T>C	XP_011521893.1:p.Ser656Pro
XM_011523592.1:c.1879T>C	XP_011521894.1:p.Ser627Pro
XM_011523593.1:c.1573T>C	XP_011521895.1:p.Ser525Pro
XM_011523594.1:c.1054T>C	XP_011521896.1:p.Ser352Pro
XM_011523595.1:c.1021T>C	XP_011521897.1:p.Ser341Pro
XM_011523596.1:c.*57T>C	XP_011521898.1:n.*57T>C
XM_011523597.1:c.787T>C	XP_011521899.1:p.Ser263Pro
XM_011523598.1:c.784T>C	XP_011521900.1:p.Ser262Pro
XM_011523599.1:c.778T>C	XP_011521901.1:p.Ser260Pro
XM_011523600.1:c.640T>C	XP_011521902.1:p.Ser214Pro
XR_430033.2:n.2434T>C
XM_005256396.4:c.2275T>C	XP_005256453.1:p.Ser759Pro
XM_005256399.5:c.1042T>C	XP_005256456.1:p.Ser348Pro
XM_005256404.4:c.640T>C	XP_005256461.1:p.Ser214Pro
XM_006722291.4:c.1030T>C	XP_006722354.1:p.Ser344Pro
XM_006722292.3:c.640T>C	XP_006722355.1:p.Ser214Pro
XM_011523589.2:c.1981T>C	XP_011521891.1:p.Ser661Pro
XM_011523591.2:c.1966T>C	XP_011521893.1:p.Ser656Pro
XM_011523593.2:c.1573T>C	XP_011521895.1:p.Ser525Pro
XM_011523594.2:c.1054T>C	XP_011521896.1:p.Ser352Pro
XM_011523595.3:c.1021T>C	XP_011521897.1:p.Ser341Pro
XM_011523597.2:c.787T>C	XP_011521899.1:p.Ser263Pro
XM_011523599.2:c.778T>C	XP_011521901.1:p.Ser260Pro
XM_011523600.3:c.640T>C	XP_011521902.1:p.Ser214Pro
XM_017024987.1:c.2137T>C	XP_016880476.1:p.Ser713Pro
XM_017024989.1:c.688T>C	XP_016880478.1:p.Ser230Pro
XM_017024990.2:c.640T>C	XP_016880479.1:p.Ser214Pro
XM_024450899.1:c.640T>C	XP_024306667.1:p.Ser214Pro
XM_024450900.1:c.640T>C	XP_024306668.1:p.Ser214Pro
XM_024450901.1:c.640T>C	XP_024306669.1:p.Ser214Pro
XM_024450902.1:c.640T>C	XP_024306670.1:p.Ser214Pro
XR_001752597.1:n.2434T>C
XR_001752598.1:n.2434T>C
XR_001752599.1:n.2434T>C
XR_001752600.1:n.2352T>C
NM_005993.5:c.2326T>C MANE Select	NP_005984.3:p.Ser776Pro