Canonical Allele Identifier: CA2576437969
Gene: TBCD HGNC NCBI

Linked Data

dbSNP Id: rs2147219029
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82925102T>C , CM000679.2:g.82925102T>C GRCh38
NC_000017.10:g.80882978T>C , CM000679.1:g.80882978T>C GRCh37
NC_000017.9:g.78476267T>C NCBI36
NG_011721.1:g.178039T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1587+45T>C
ENST00000576677.6:n.1508+45T>C
ENST00000681983.1:n.2515+45T>C
ENST00000682099.1:n.1276+45T>C
ENST00000682213.1:c.*350+45T>C ENSP00000508166.1:n.*350+45T>C
ENST00000682315.1:c.693+45T>C ENSP00000507232.1:n.693+45T>C
ENST00000682479.1:c.2469+45T>C ENSP00000508214.1:n.2469+45T>C
ENST00000682610.1:n.1619+45T>C
ENST00000682654.1:c.*350+45T>C ENSP00000507412.1:n.*350+45T>C
ENST00000682722.1:c.2328+45T>C ENSP00000508364.1:n.2328+45T>C
ENST00000683041.1:c.*350+45T>C ENSP00000506994.1:n.*350+45T>C
ENST00000683184.1:c.*2032+45T>C ENSP00000507757.1:n.*2032+45T>C
ENST00000683282.1:c.2295+45T>C ENSP00000506913.1:n.2295+45T>C
ENST00000683444.1:c.*1956+45T>C ENSP00000507553.1:n.*1956+45T>C
ENST00000683584.1:n.1202+45T>C
ENST00000683821.1:c.693+45T>C ENSP00000507651.1:n.693+45T>C
ENST00000683839.1:n.1833+45T>C
ENST00000684000.1:c.2463+45T>C ENSP00000506795.1:n.2463+45T>C
ENST00000684188.1:c.2190+45T>C ENSP00000507153.1:n.2190+45T>C
ENST00000684349.1:c.2565+45T>C ENSP00000508067.1:n.2565+45T>C
ENST00000684361.1:c.2379+45T>C ENSP00000507364.1:n.2379+45T>C
ENST00000684408.1:c.2022+45T>C ENSP00000506837.1:n.2022+45T>C
ENST00000684429.1:c.2307+45T>C ENSP00000507224.1:n.2307+45T>C
ENST00000684464.1:c.2472+45T>C ENSP00000508333.1:n.2472+45T>C
ENST00000684544.1:c.2298+45T>C ENSP00000507337.1:n.2298+45T>C
ENST00000684559.1:n.1134+45T>C
ENST00000684760.1:c.2646+45T>C ENSP00000507696.1:n.2646+45T>C
ENST00000684776.1:c.*862+45T>C ENSP00000507861.1:n.*862+45T>C
ENST00000355528.9:c.2379+45T>C MANE Select ENSP00000347719.4:n.2379+45T>C
ENST00000355528.8:c.2379+45T>C ENSP00000347719.4:n.2379+45T>C
ENST00000539345.6:c.2379+45T>C ENSP00000440671.2:n.2379+45T>C
ENST00000571618.5:n.557+45T>C
ENST00000571796.5:n.1037+45T>C
ENST00000574422.1:c.693+45T>C ENSP00000458599.1:n.693+45T>C
ENST00000574818.5:n.437+45T>C
ENST00000574886.1:n.763+45T>C
ENST00000576760.5:c.693+45T>C ENSP00000460949.1:n.693+45T>C
NM_005993.4:c.2379+45T>C NP_005984.3:n.2379+45T>C
XM_005256396.3:c.2328+45T>C XP_005256453.1:n.2328+45T>C
XM_005256399.3:c.1095+45T>C XP_005256456.1:n.1095+45T>C
XM_005256400.3:c.693+45T>C XP_005256457.1:n.693+45T>C
XM_005256401.3:c.693+45T>C XP_005256458.1:n.693+45T>C
XM_005256402.3:c.693+45T>C XP_005256459.1:n.693+45T>C
XM_005256403.3:c.693+45T>C XP_005256460.1:n.693+45T>C
XM_005256404.3:c.693+45T>C XP_005256461.1:n.693+45T>C
XM_006722290.2:c.2298+45T>C XP_006722353.1:n.2298+45T>C
XM_006722291.2:c.1083+45T>C XP_006722354.1:n.1083+45T>C
XM_006722292.2:c.693+45T>C XP_006722355.1:n.693+45T>C
XM_011523589.1:c.2034+45T>C XP_011521891.1:n.2034+45T>C
XM_011523590.1:c.2022+45T>C XP_011521892.1:n.2022+45T>C
XM_011523591.1:c.2019+45T>C XP_011521893.1:n.2019+45T>C
XM_011523592.1:c.1932+45T>C XP_011521894.1:n.1932+45T>C
XM_011523593.1:c.1626+45T>C XP_011521895.1:n.1626+45T>C
XM_011523594.1:c.1107+45T>C XP_011521896.1:n.1107+45T>C
XM_011523595.1:c.1074+45T>C XP_011521897.1:n.1074+45T>C
XM_011523597.1:c.840+45T>C XP_011521899.1:n.840+45T>C
XM_011523598.1:c.837+45T>C XP_011521900.1:n.837+45T>C
XM_011523599.1:c.831+45T>C XP_011521901.1:n.831+45T>C
XM_011523600.1:c.693+45T>C XP_011521902.1:n.693+45T>C
XR_430033.2:n.2487+45T>C
XM_005256396.4:c.2328+45T>C XP_005256453.1:n.2328+45T>C
XM_005256399.5:c.1095+45T>C XP_005256456.1:n.1095+45T>C
XM_005256404.4:c.693+45T>C XP_005256461.1:n.693+45T>C
XM_006722291.4:c.1083+45T>C XP_006722354.1:n.1083+45T>C
XM_006722292.3:c.693+45T>C XP_006722355.1:n.693+45T>C
XM_011523589.2:c.2034+45T>C XP_011521891.1:n.2034+45T>C
XM_011523591.2:c.2019+45T>C XP_011521893.1:n.2019+45T>C
XM_011523593.2:c.1626+45T>C XP_011521895.1:n.1626+45T>C
XM_011523594.2:c.1107+45T>C XP_011521896.1:n.1107+45T>C
XM_011523595.3:c.1074+45T>C XP_011521897.1:n.1074+45T>C
XM_011523597.2:c.840+45T>C XP_011521899.1:n.840+45T>C
XM_011523599.2:c.831+45T>C XP_011521901.1:n.831+45T>C
XM_011523600.3:c.693+45T>C XP_011521902.1:n.693+45T>C
XM_017024987.1:c.2190+45T>C XP_016880476.1:n.2190+45T>C
XM_017024989.1:c.741+45T>C XP_016880478.1:n.741+45T>C
XM_017024990.2:c.693+45T>C XP_016880479.1:n.693+45T>C
XM_024450899.1:c.693+45T>C XP_024306667.1:n.693+45T>C
XM_024450900.1:c.693+45T>C XP_024306668.1:n.693+45T>C
XM_024450901.1:c.693+45T>C XP_024306669.1:n.693+45T>C
XM_024450902.1:c.693+45T>C XP_024306670.1:n.693+45T>C
XR_001752597.1:n.2487+45T>C
XR_001752598.1:n.2487+45T>C
XR_001752599.1:n.2487+45T>C
XR_001752600.1:n.2405+45T>C
NM_005993.5:c.2379+45T>C MANE Select NP_005984.3:n.2379+45T>C
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