Canonical Allele Identifier: CA401633318
Gene: TBCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82924968C>G , CM000679.2:g.82924968C>G GRCh38
NC_000017.10:g.80882844C>G , CM000679.1:g.80882844C>G GRCh37
NC_000017.9:g.78476133C>G NCBI36
NG_011721.1:g.177905C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1498C>G
ENST00000576677.6:n.1419C>G
ENST00000681983.1:n.2426C>G
ENST00000682099.1:n.1187C>G
ENST00000682213.1:c.*261C>G ENSP00000508166.1:n.*261C>G
ENST00000682315.1:c.604C>G ENSP00000507232.1:p.Leu202Val
ENST00000682479.1:c.2380C>G ENSP00000508214.1:p.Leu794Val
ENST00000682610.1:n.1530C>G
ENST00000682654.1:c.*261C>G ENSP00000507412.1:n.*261C>G
ENST00000682722.1:c.2239C>G ENSP00000508364.1:p.Leu747Val
ENST00000683041.1:c.*261C>G ENSP00000506994.1:n.*261C>G
ENST00000683184.1:c.*1943C>G ENSP00000507757.1:n.*1943C>G
ENST00000683282.1:c.2206C>G ENSP00000506913.1:p.Leu736Val
ENST00000683444.1:c.*1867C>G ENSP00000507553.1:n.*1867C>G
ENST00000683584.1:n.1113C>G
ENST00000683821.1:c.604C>G ENSP00000507651.1:p.Leu202Val
ENST00000683839.1:n.1744C>G
ENST00000684000.1:c.2374C>G ENSP00000506795.1:p.Leu792Val
ENST00000684188.1:c.2101C>G ENSP00000507153.1:p.Leu701Val
ENST00000684349.1:c.2476C>G ENSP00000508067.1:p.Leu826Val
ENST00000684361.1:c.2290C>G ENSP00000507364.1:p.Leu764Val
ENST00000684408.1:c.1933C>G ENSP00000506837.1:p.Leu645Val
ENST00000684429.1:c.2218C>G ENSP00000507224.1:p.Leu740Val
ENST00000684464.1:c.2383C>G ENSP00000508333.1:p.Leu795Val
ENST00000684544.1:c.2209C>G ENSP00000507337.1:p.Leu737Val
ENST00000684559.1:n.1045C>G
ENST00000684760.1:c.2557C>G ENSP00000507696.1:p.Leu853Val
ENST00000684776.1:c.*773C>G ENSP00000507861.1:n.*773C>G
ENST00000355528.9:c.2290C>G MANE Select ENSP00000347719.4:p.Leu764Val
ENST00000355528.8:c.2290C>G ENSP00000347719.4:p.Leu764Val
ENST00000539345.6:c.2290C>G ENSP00000440671.2:p.Leu764Val
ENST00000571618.5:n.468C>G
ENST00000571796.5:n.948C>G
ENST00000574422.1:c.604C>G ENSP00000458599.1:p.Leu202Val
ENST00000574818.5:n.348C>G
ENST00000574886.1:n.674C>G
ENST00000574975.5:c.667C>G ENSP00000461680.1:p.Leu223Val
ENST00000576760.5:c.604C>G ENSP00000460949.1:p.Leu202Val
NM_005993.4:c.2290C>G NP_005984.3:p.Leu764Val
XM_005256396.3:c.2239C>G XP_005256453.1:p.Leu747Val
XM_005256399.3:c.1006C>G XP_005256456.1:p.Leu336Val
XM_005256400.3:c.604C>G XP_005256457.1:p.Leu202Val
XM_005256401.3:c.604C>G XP_005256458.1:p.Leu202Val
XM_005256402.3:c.604C>G XP_005256459.1:p.Leu202Val
XM_005256403.3:c.604C>G XP_005256460.1:p.Leu202Val
XM_005256404.3:c.604C>G XP_005256461.1:p.Leu202Val
XM_006722290.2:c.2209C>G XP_006722353.1:p.Leu737Val
XM_006722291.2:c.994C>G XP_006722354.1:p.Leu332Val
XM_006722292.2:c.604C>G XP_006722355.1:p.Leu202Val
XM_011523589.1:c.1945C>G XP_011521891.1:p.Leu649Val
XM_011523590.1:c.1933C>G XP_011521892.1:p.Leu645Val
XM_011523591.1:c.1930C>G XP_011521893.1:p.Leu644Val
XM_011523592.1:c.1843C>G XP_011521894.1:p.Leu615Val
XM_011523593.1:c.1537C>G XP_011521895.1:p.Leu513Val
XM_011523594.1:c.1018C>G XP_011521896.1:p.Leu340Val
XM_011523595.1:c.985C>G XP_011521897.1:p.Leu329Val
XM_011523596.1:c.*21C>G XP_011521898.1:n.*21C>G
XM_011523597.1:c.751C>G XP_011521899.1:p.Leu251Val
XM_011523598.1:c.748C>G XP_011521900.1:p.Leu250Val
XM_011523599.1:c.742C>G XP_011521901.1:p.Leu248Val
XM_011523600.1:c.604C>G XP_011521902.1:p.Leu202Val
XR_430033.2:n.2398C>G
XM_005256396.4:c.2239C>G XP_005256453.1:p.Leu747Val
XM_005256399.5:c.1006C>G XP_005256456.1:p.Leu336Val
XM_005256404.4:c.604C>G XP_005256461.1:p.Leu202Val
XM_006722291.4:c.994C>G XP_006722354.1:p.Leu332Val
XM_006722292.3:c.604C>G XP_006722355.1:p.Leu202Val
XM_011523589.2:c.1945C>G XP_011521891.1:p.Leu649Val
XM_011523591.2:c.1930C>G XP_011521893.1:p.Leu644Val
XM_011523593.2:c.1537C>G XP_011521895.1:p.Leu513Val
XM_011523594.2:c.1018C>G XP_011521896.1:p.Leu340Val
XM_011523595.3:c.985C>G XP_011521897.1:p.Leu329Val
XM_011523597.2:c.751C>G XP_011521899.1:p.Leu251Val
XM_011523599.2:c.742C>G XP_011521901.1:p.Leu248Val
XM_011523600.3:c.604C>G XP_011521902.1:p.Leu202Val
XM_017024987.1:c.2101C>G XP_016880476.1:p.Leu701Val
XM_017024989.1:c.652C>G XP_016880478.1:p.Leu218Val
XM_017024990.2:c.604C>G XP_016880479.1:p.Leu202Val
XM_024450899.1:c.604C>G XP_024306667.1:p.Leu202Val
XM_024450900.1:c.604C>G XP_024306668.1:p.Leu202Val
XM_024450901.1:c.604C>G XP_024306669.1:p.Leu202Val
XM_024450902.1:c.604C>G XP_024306670.1:p.Leu202Val
XR_001752597.1:n.2398C>G
XR_001752598.1:n.2398C>G
XR_001752599.1:n.2398C>G
XR_001752600.1:n.2316C>G
NM_005993.5:c.2290C>G MANE Select NP_005984.3:p.Leu764Val