Canonical Allele Identifier: CA401633504

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925010-G-T
• MyVariant Identifiers: chr17:g.80882886G>T (hg19) ; chr17:g.82925010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925010G>T , CM000679.2:g.82925010G>T	GRCh38
NC_000017.10:g.80882886G>T , CM000679.1:g.80882886G>T	GRCh37
NC_000017.9:g.78476175G>T	NCBI36
NG_011721.1:g.177947G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1540G>T
ENST00000576677.6:n.1461G>T
ENST00000681983.1:n.2468G>T
ENST00000682099.1:n.1229G>T
ENST00000682213.1:c.*303G>T	ENSP00000508166.1:n.*303G>T
ENST00000682315.1:c.646G>T	ENSP00000507232.1:p.Ala216Ser
ENST00000682479.1:c.2422G>T	ENSP00000508214.1:p.Ala808Ser
ENST00000682610.1:n.1572G>T
ENST00000682654.1:c.*303G>T	ENSP00000507412.1:n.*303G>T
ENST00000682722.1:c.2281G>T	ENSP00000508364.1:p.Ala761Ser
ENST00000683041.1:c.*303G>T	ENSP00000506994.1:n.*303G>T
ENST00000683184.1:c.*1985G>T	ENSP00000507757.1:n.*1985G>T
ENST00000683282.1:c.2248G>T	ENSP00000506913.1:p.Ala750Ser
ENST00000683444.1:c.*1909G>T	ENSP00000507553.1:n.*1909G>T
ENST00000683584.1:n.1155G>T
ENST00000683821.1:c.646G>T	ENSP00000507651.1:p.Ala216Ser
ENST00000683839.1:n.1786G>T
ENST00000684000.1:c.2416G>T	ENSP00000506795.1:p.Ala806Ser
ENST00000684188.1:c.2143G>T	ENSP00000507153.1:p.Ala715Ser
ENST00000684349.1:c.2518G>T	ENSP00000508067.1:p.Ala840Ser
ENST00000684361.1:c.2332G>T	ENSP00000507364.1:p.Ala778Ser
ENST00000684408.1:c.1975G>T	ENSP00000506837.1:p.Ala659Ser
ENST00000684429.1:c.2260G>T	ENSP00000507224.1:p.Ala754Ser
ENST00000684464.1:c.2425G>T	ENSP00000508333.1:p.Ala809Ser
ENST00000684544.1:c.2251G>T	ENSP00000507337.1:p.Ala751Ser
ENST00000684559.1:n.1087G>T
ENST00000684760.1:c.2599G>T	ENSP00000507696.1:p.Ala867Ser
ENST00000684776.1:c.*815G>T	ENSP00000507861.1:n.*815G>T
ENST00000355528.9:c.2332G>T MANE Select	ENSP00000347719.4:p.Ala778Ser
ENST00000355528.8:c.2332G>T	ENSP00000347719.4:p.Ala778Ser
ENST00000539345.6:c.2332G>T	ENSP00000440671.2:p.Ala778Ser
ENST00000571618.5:n.510G>T
ENST00000571796.5:n.990G>T
ENST00000574422.1:c.646G>T	ENSP00000458599.1:p.Ala216Ser
ENST00000574818.5:n.390G>T
ENST00000574886.1:n.716G>T
ENST00000574975.5:c.709G>T	ENSP00000461680.1:p.Ala237Ser
ENST00000576760.5:c.646G>T	ENSP00000460949.1:p.Ala216Ser
NM_005993.4:c.2332G>T	NP_005984.3:p.Ala778Ser
XM_005256396.3:c.2281G>T	XP_005256453.1:p.Ala761Ser
XM_005256399.3:c.1048G>T	XP_005256456.1:p.Ala350Ser
XM_005256400.3:c.646G>T	XP_005256457.1:p.Ala216Ser
XM_005256401.3:c.646G>T	XP_005256458.1:p.Ala216Ser
XM_005256402.3:c.646G>T	XP_005256459.1:p.Ala216Ser
XM_005256403.3:c.646G>T	XP_005256460.1:p.Ala216Ser
XM_005256404.3:c.646G>T	XP_005256461.1:p.Ala216Ser
XM_006722290.2:c.2251G>T	XP_006722353.1:p.Ala751Ser
XM_006722291.2:c.1036G>T	XP_006722354.1:p.Ala346Ser
XM_006722292.2:c.646G>T	XP_006722355.1:p.Ala216Ser
XM_011523589.1:c.1987G>T	XP_011521891.1:p.Ala663Ser
XM_011523590.1:c.1975G>T	XP_011521892.1:p.Ala659Ser
XM_011523591.1:c.1972G>T	XP_011521893.1:p.Ala658Ser
XM_011523592.1:c.1885G>T	XP_011521894.1:p.Ala629Ser
XM_011523593.1:c.1579G>T	XP_011521895.1:p.Ala527Ser
XM_011523594.1:c.1060G>T	XP_011521896.1:p.Ala354Ser
XM_011523595.1:c.1027G>T	XP_011521897.1:p.Ala343Ser
XM_011523596.1:c.*63G>T	XP_011521898.1:n.*63G>T
XM_011523597.1:c.793G>T	XP_011521899.1:p.Ala265Ser
XM_011523598.1:c.790G>T	XP_011521900.1:p.Ala264Ser
XM_011523599.1:c.784G>T	XP_011521901.1:p.Ala262Ser
XM_011523600.1:c.646G>T	XP_011521902.1:p.Ala216Ser
XR_430033.2:n.2440G>T
XM_005256396.4:c.2281G>T	XP_005256453.1:p.Ala761Ser
XM_005256399.5:c.1048G>T	XP_005256456.1:p.Ala350Ser
XM_005256404.4:c.646G>T	XP_005256461.1:p.Ala216Ser
XM_006722291.4:c.1036G>T	XP_006722354.1:p.Ala346Ser
XM_006722292.3:c.646G>T	XP_006722355.1:p.Ala216Ser
XM_011523589.2:c.1987G>T	XP_011521891.1:p.Ala663Ser
XM_011523591.2:c.1972G>T	XP_011521893.1:p.Ala658Ser
XM_011523593.2:c.1579G>T	XP_011521895.1:p.Ala527Ser
XM_011523594.2:c.1060G>T	XP_011521896.1:p.Ala354Ser
XM_011523595.3:c.1027G>T	XP_011521897.1:p.Ala343Ser
XM_011523597.2:c.793G>T	XP_011521899.1:p.Ala265Ser
XM_011523599.2:c.784G>T	XP_011521901.1:p.Ala262Ser
XM_011523600.3:c.646G>T	XP_011521902.1:p.Ala216Ser
XM_017024987.1:c.2143G>T	XP_016880476.1:p.Ala715Ser
XM_017024989.1:c.694G>T	XP_016880478.1:p.Ala232Ser
XM_017024990.2:c.646G>T	XP_016880479.1:p.Ala216Ser
XM_024450899.1:c.646G>T	XP_024306667.1:p.Ala216Ser
XM_024450900.1:c.646G>T	XP_024306668.1:p.Ala216Ser
XM_024450901.1:c.646G>T	XP_024306669.1:p.Ala216Ser
XM_024450902.1:c.646G>T	XP_024306670.1:p.Ala216Ser
XR_001752597.1:n.2440G>T
XR_001752598.1:n.2440G>T
XR_001752599.1:n.2440G>T
XR_001752600.1:n.2358G>T
NM_005993.5:c.2332G>T MANE Select	NP_005984.3:p.Ala778Ser