Canonical Allele Identifier: CA502597398

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924964-T-C
• COSMIC: COSM5133205
• MyVariant Identifiers: chr17:g.80882840T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924964T>C , CM000679.2:g.82924964T>C	GRCh38
NC_000017.10:g.80882840T>C , CM000679.1:g.80882840T>C	GRCh37
NC_000017.9:g.78476129T>C	NCBI36
NG_011721.1:g.177901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1494T>C
ENST00000576677.6:n.1415T>C
ENST00000681983.1:n.2422T>C
ENST00000682099.1:n.1183T>C
ENST00000682213.1:c.*257T>C	ENSP00000508166.1:n.*257T>C
ENST00000682315.1:c.600T>C	ENSP00000507232.1:p.Ala200=
ENST00000682479.1:c.2376T>C	ENSP00000508214.1:p.Ala792=
ENST00000682610.1:n.1526T>C
ENST00000682654.1:c.*257T>C	ENSP00000507412.1:n.*257T>C
ENST00000682722.1:c.2235T>C	ENSP00000508364.1:p.Ala745=
ENST00000683041.1:c.*257T>C	ENSP00000506994.1:n.*257T>C
ENST00000683184.1:c.*1939T>C	ENSP00000507757.1:n.*1939T>C
ENST00000683282.1:c.2202T>C	ENSP00000506913.1:p.Ala734=
ENST00000683444.1:c.*1863T>C	ENSP00000507553.1:n.*1863T>C
ENST00000683584.1:n.1109T>C
ENST00000683821.1:c.600T>C	ENSP00000507651.1:p.Ala200=
ENST00000683839.1:n.1740T>C
ENST00000684000.1:c.2370T>C	ENSP00000506795.1:p.Ala790=
ENST00000684188.1:c.2097T>C	ENSP00000507153.1:p.Ala699=
ENST00000684349.1:c.2472T>C	ENSP00000508067.1:p.Ala824=
ENST00000684361.1:c.2286T>C	ENSP00000507364.1:p.Ala762=
ENST00000684408.1:c.1929T>C	ENSP00000506837.1:p.Ala643=
ENST00000684429.1:c.2214T>C	ENSP00000507224.1:p.Ala738=
ENST00000684464.1:c.2379T>C	ENSP00000508333.1:p.Ala793=
ENST00000684544.1:c.2205T>C	ENSP00000507337.1:p.Ala735=
ENST00000684559.1:n.1041T>C
ENST00000684760.1:c.2553T>C	ENSP00000507696.1:p.Ala851=
ENST00000684776.1:c.*769T>C	ENSP00000507861.1:n.*769T>C
ENST00000355528.9:c.2286T>C MANE Select	ENSP00000347719.4:p.Ala762=
ENST00000355528.8:c.2286T>C	ENSP00000347719.4:p.Ala762=
ENST00000539345.6:c.2286T>C	ENSP00000440671.2:p.Ala762=
ENST00000571618.5:n.464T>C
ENST00000571796.5:n.944T>C
ENST00000574422.1:c.600T>C	ENSP00000458599.1:p.Ala200=
ENST00000574818.5:n.344T>C
ENST00000574886.1:n.670T>C
ENST00000574975.5:c.663T>C	ENSP00000461680.1:p.Ala221=
ENST00000576760.5:c.600T>C	ENSP00000460949.1:p.Ala200=
NM_005993.4:c.2286T>C	NP_005984.3:p.Ala762=
XM_005256396.3:c.2235T>C	XP_005256453.1:p.Ala745=
XM_005256399.3:c.1002T>C	XP_005256456.1:p.Ala334=
XM_005256400.3:c.600T>C	XP_005256457.1:p.Ala200=
XM_005256401.3:c.600T>C	XP_005256458.1:p.Ala200=
XM_005256402.3:c.600T>C	XP_005256459.1:p.Ala200=
XM_005256403.3:c.600T>C	XP_005256460.1:p.Ala200=
XM_005256404.3:c.600T>C	XP_005256461.1:p.Ala200=
XM_006722290.2:c.2205T>C	XP_006722353.1:p.Ala735=
XM_006722291.2:c.990T>C	XP_006722354.1:p.Ala330=
XM_006722292.2:c.600T>C	XP_006722355.1:p.Ala200=
XM_011523589.1:c.1941T>C	XP_011521891.1:p.Ala647=
XM_011523590.1:c.1929T>C	XP_011521892.1:p.Ala643=
XM_011523591.1:c.1926T>C	XP_011521893.1:p.Ala642=
XM_011523592.1:c.1839T>C	XP_011521894.1:p.Ala613=
XM_011523593.1:c.1533T>C	XP_011521895.1:p.Ala511=
XM_011523594.1:c.1014T>C	XP_011521896.1:p.Ala338=
XM_011523595.1:c.981T>C	XP_011521897.1:p.Ala327=
XM_011523596.1:c.*17T>C	XP_011521898.1:n.*17T>C
XM_011523597.1:c.747T>C	XP_011521899.1:p.Ala249=
XM_011523598.1:c.744T>C	XP_011521900.1:p.Ala248=
XM_011523599.1:c.738T>C	XP_011521901.1:p.Ala246=
XM_011523600.1:c.600T>C	XP_011521902.1:p.Ala200=
XR_430033.2:n.2394T>C
XM_005256396.4:c.2235T>C	XP_005256453.1:p.Ala745=
XM_005256399.5:c.1002T>C	XP_005256456.1:p.Ala334=
XM_005256404.4:c.600T>C	XP_005256461.1:p.Ala200=
XM_006722291.4:c.990T>C	XP_006722354.1:p.Ala330=
XM_006722292.3:c.600T>C	XP_006722355.1:p.Ala200=
XM_011523589.2:c.1941T>C	XP_011521891.1:p.Ala647=
XM_011523591.2:c.1926T>C	XP_011521893.1:p.Ala642=
XM_011523593.2:c.1533T>C	XP_011521895.1:p.Ala511=
XM_011523594.2:c.1014T>C	XP_011521896.1:p.Ala338=
XM_011523595.3:c.981T>C	XP_011521897.1:p.Ala327=
XM_011523597.2:c.747T>C	XP_011521899.1:p.Ala249=
XM_011523599.2:c.738T>C	XP_011521901.1:p.Ala246=
XM_011523600.3:c.600T>C	XP_011521902.1:p.Ala200=
XM_017024987.1:c.2097T>C	XP_016880476.1:p.Ala699=
XM_017024989.1:c.648T>C	XP_016880478.1:p.Ala216=
XM_017024990.2:c.600T>C	XP_016880479.1:p.Ala200=
XM_024450899.1:c.600T>C	XP_024306667.1:p.Ala200=
XM_024450900.1:c.600T>C	XP_024306668.1:p.Ala200=
XM_024450901.1:c.600T>C	XP_024306669.1:p.Ala200=
XM_024450902.1:c.600T>C	XP_024306670.1:p.Ala200=
XR_001752597.1:n.2394T>C
XR_001752598.1:n.2394T>C
XR_001752599.1:n.2394T>C
XR_001752600.1:n.2312T>C
NM_005993.5:c.2286T>C MANE Select	NP_005984.3:p.Ala762=