Canonical Allele Identifier: CA502597427

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925006-G-T
• MyVariant Identifiers: chr17:g.80882882G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925006G>T , CM000679.2:g.82925006G>T	GRCh38
NC_000017.10:g.80882882G>T , CM000679.1:g.80882882G>T	GRCh37
NC_000017.9:g.78476171G>T	NCBI36
NG_011721.1:g.177943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1536G>T
ENST00000576677.6:n.1457G>T
ENST00000681983.1:n.2464G>T
ENST00000682099.1:n.1225G>T
ENST00000682213.1:c.*299G>T	ENSP00000508166.1:n.*299G>T
ENST00000682315.1:c.642G>T	ENSP00000507232.1:p.Ser214=
ENST00000682479.1:c.2418G>T	ENSP00000508214.1:p.Ser806=
ENST00000682610.1:n.1568G>T
ENST00000682654.1:c.*299G>T	ENSP00000507412.1:n.*299G>T
ENST00000682722.1:c.2277G>T	ENSP00000508364.1:p.Ser759=
ENST00000683041.1:c.*299G>T	ENSP00000506994.1:n.*299G>T
ENST00000683184.1:c.*1981G>T	ENSP00000507757.1:n.*1981G>T
ENST00000683282.1:c.2244G>T	ENSP00000506913.1:p.Ser748=
ENST00000683444.1:c.*1905G>T	ENSP00000507553.1:n.*1905G>T
ENST00000683584.1:n.1151G>T
ENST00000683821.1:c.642G>T	ENSP00000507651.1:p.Ser214=
ENST00000683839.1:n.1782G>T
ENST00000684000.1:c.2412G>T	ENSP00000506795.1:p.Ser804=
ENST00000684188.1:c.2139G>T	ENSP00000507153.1:p.Ser713=
ENST00000684349.1:c.2514G>T	ENSP00000508067.1:p.Ser838=
ENST00000684361.1:c.2328G>T	ENSP00000507364.1:p.Ser776=
ENST00000684408.1:c.1971G>T	ENSP00000506837.1:p.Ser657=
ENST00000684429.1:c.2256G>T	ENSP00000507224.1:p.Ser752=
ENST00000684464.1:c.2421G>T	ENSP00000508333.1:p.Ser807=
ENST00000684544.1:c.2247G>T	ENSP00000507337.1:p.Ser749=
ENST00000684559.1:n.1083G>T
ENST00000684760.1:c.2595G>T	ENSP00000507696.1:p.Ser865=
ENST00000684776.1:c.*811G>T	ENSP00000507861.1:n.*811G>T
ENST00000355528.9:c.2328G>T MANE Select	ENSP00000347719.4:p.Ser776=
ENST00000355528.8:c.2328G>T	ENSP00000347719.4:p.Ser776=
ENST00000539345.6:c.2328G>T	ENSP00000440671.2:p.Ser776=
ENST00000571618.5:n.506G>T
ENST00000571796.5:n.986G>T
ENST00000574422.1:c.642G>T	ENSP00000458599.1:p.Ser214=
ENST00000574818.5:n.386G>T
ENST00000574886.1:n.712G>T
ENST00000574975.5:c.705G>T	ENSP00000461680.1:p.Ser235=
ENST00000576760.5:c.642G>T	ENSP00000460949.1:p.Ser214=
NM_005993.4:c.2328G>T	NP_005984.3:p.Ser776=
XM_005256396.3:c.2277G>T	XP_005256453.1:p.Ser759=
XM_005256399.3:c.1044G>T	XP_005256456.1:p.Ser348=
XM_005256400.3:c.642G>T	XP_005256457.1:p.Ser214=
XM_005256401.3:c.642G>T	XP_005256458.1:p.Ser214=
XM_005256402.3:c.642G>T	XP_005256459.1:p.Ser214=
XM_005256403.3:c.642G>T	XP_005256460.1:p.Ser214=
XM_005256404.3:c.642G>T	XP_005256461.1:p.Ser214=
XM_006722290.2:c.2247G>T	XP_006722353.1:p.Ser749=
XM_006722291.2:c.1032G>T	XP_006722354.1:p.Ser344=
XM_006722292.2:c.642G>T	XP_006722355.1:p.Ser214=
XM_011523589.1:c.1983G>T	XP_011521891.1:p.Ser661=
XM_011523590.1:c.1971G>T	XP_011521892.1:p.Ser657=
XM_011523591.1:c.1968G>T	XP_011521893.1:p.Ser656=
XM_011523592.1:c.1881G>T	XP_011521894.1:p.Ser627=
XM_011523593.1:c.1575G>T	XP_011521895.1:p.Ser525=
XM_011523594.1:c.1056G>T	XP_011521896.1:p.Ser352=
XM_011523595.1:c.1023G>T	XP_011521897.1:p.Ser341=
XM_011523596.1:c.*59G>T	XP_011521898.1:n.*59G>T
XM_011523597.1:c.789G>T	XP_011521899.1:p.Ser263=
XM_011523598.1:c.786G>T	XP_011521900.1:p.Ser262=
XM_011523599.1:c.780G>T	XP_011521901.1:p.Ser260=
XM_011523600.1:c.642G>T	XP_011521902.1:p.Ser214=
XR_430033.2:n.2436G>T
XM_005256396.4:c.2277G>T	XP_005256453.1:p.Ser759=
XM_005256399.5:c.1044G>T	XP_005256456.1:p.Ser348=
XM_005256404.4:c.642G>T	XP_005256461.1:p.Ser214=
XM_006722291.4:c.1032G>T	XP_006722354.1:p.Ser344=
XM_006722292.3:c.642G>T	XP_006722355.1:p.Ser214=
XM_011523589.2:c.1983G>T	XP_011521891.1:p.Ser661=
XM_011523591.2:c.1968G>T	XP_011521893.1:p.Ser656=
XM_011523593.2:c.1575G>T	XP_011521895.1:p.Ser525=
XM_011523594.2:c.1056G>T	XP_011521896.1:p.Ser352=
XM_011523595.3:c.1023G>T	XP_011521897.1:p.Ser341=
XM_011523597.2:c.789G>T	XP_011521899.1:p.Ser263=
XM_011523599.2:c.780G>T	XP_011521901.1:p.Ser260=
XM_011523600.3:c.642G>T	XP_011521902.1:p.Ser214=
XM_017024987.1:c.2139G>T	XP_016880476.1:p.Ser713=
XM_017024989.1:c.690G>T	XP_016880478.1:p.Ser230=
XM_017024990.2:c.642G>T	XP_016880479.1:p.Ser214=
XM_024450899.1:c.642G>T	XP_024306667.1:p.Ser214=
XM_024450900.1:c.642G>T	XP_024306668.1:p.Ser214=
XM_024450901.1:c.642G>T	XP_024306669.1:p.Ser214=
XM_024450902.1:c.642G>T	XP_024306670.1:p.Ser214=
XR_001752597.1:n.2436G>T
XR_001752598.1:n.2436G>T
XR_001752599.1:n.2436G>T
XR_001752600.1:n.2354G>T
NM_005993.5:c.2328G>T MANE Select	NP_005984.3:p.Ser776=