Canonical Allele Identifier: CA401633335

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924974-A-C
• MyVariant Identifiers: chr17:g.80882850A>C (hg19) ; chr17:g.82924974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924974A>C , CM000679.2:g.82924974A>C	GRCh38
NC_000017.10:g.80882850A>C , CM000679.1:g.80882850A>C	GRCh37
NC_000017.9:g.78476139A>C	NCBI36
NG_011721.1:g.177911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1504A>C
ENST00000576677.6:n.1425A>C
ENST00000681983.1:n.2432A>C
ENST00000682099.1:n.1193A>C
ENST00000682213.1:c.*267A>C	ENSP00000508166.1:n.*267A>C
ENST00000682315.1:c.610A>C	ENSP00000507232.1:p.Asn204His
ENST00000682479.1:c.2386A>C	ENSP00000508214.1:p.Asn796His
ENST00000682610.1:n.1536A>C
ENST00000682654.1:c.*267A>C	ENSP00000507412.1:n.*267A>C
ENST00000682722.1:c.2245A>C	ENSP00000508364.1:p.Asn749His
ENST00000683041.1:c.*267A>C	ENSP00000506994.1:n.*267A>C
ENST00000683184.1:c.*1949A>C	ENSP00000507757.1:n.*1949A>C
ENST00000683282.1:c.2212A>C	ENSP00000506913.1:p.Asn738His
ENST00000683444.1:c.*1873A>C	ENSP00000507553.1:n.*1873A>C
ENST00000683584.1:n.1119A>C
ENST00000683821.1:c.610A>C	ENSP00000507651.1:p.Asn204His
ENST00000683839.1:n.1750A>C
ENST00000684000.1:c.2380A>C	ENSP00000506795.1:p.Asn794His
ENST00000684188.1:c.2107A>C	ENSP00000507153.1:p.Asn703His
ENST00000684349.1:c.2482A>C	ENSP00000508067.1:p.Asn828His
ENST00000684361.1:c.2296A>C	ENSP00000507364.1:p.Asn766His
ENST00000684408.1:c.1939A>C	ENSP00000506837.1:p.Asn647His
ENST00000684429.1:c.2224A>C	ENSP00000507224.1:p.Asn742His
ENST00000684464.1:c.2389A>C	ENSP00000508333.1:p.Asn797His
ENST00000684544.1:c.2215A>C	ENSP00000507337.1:p.Asn739His
ENST00000684559.1:n.1051A>C
ENST00000684760.1:c.2563A>C	ENSP00000507696.1:p.Asn855His
ENST00000684776.1:c.*779A>C	ENSP00000507861.1:n.*779A>C
ENST00000355528.9:c.2296A>C MANE Select	ENSP00000347719.4:p.Asn766His
ENST00000355528.8:c.2296A>C	ENSP00000347719.4:p.Asn766His
ENST00000539345.6:c.2296A>C	ENSP00000440671.2:p.Asn766His
ENST00000571618.5:n.474A>C
ENST00000571796.5:n.954A>C
ENST00000574422.1:c.610A>C	ENSP00000458599.1:p.Asn204His
ENST00000574818.5:n.354A>C
ENST00000574886.1:n.680A>C
ENST00000574975.5:c.673A>C	ENSP00000461680.1:p.Asn225His
ENST00000576760.5:c.610A>C	ENSP00000460949.1:p.Asn204His
NM_005993.4:c.2296A>C	NP_005984.3:p.Asn766His
XM_005256396.3:c.2245A>C	XP_005256453.1:p.Asn749His
XM_005256399.3:c.1012A>C	XP_005256456.1:p.Asn338His
XM_005256400.3:c.610A>C	XP_005256457.1:p.Asn204His
XM_005256401.3:c.610A>C	XP_005256458.1:p.Asn204His
XM_005256402.3:c.610A>C	XP_005256459.1:p.Asn204His
XM_005256403.3:c.610A>C	XP_005256460.1:p.Asn204His
XM_005256404.3:c.610A>C	XP_005256461.1:p.Asn204His
XM_006722290.2:c.2215A>C	XP_006722353.1:p.Asn739His
XM_006722291.2:c.1000A>C	XP_006722354.1:p.Asn334His
XM_006722292.2:c.610A>C	XP_006722355.1:p.Asn204His
XM_011523589.1:c.1951A>C	XP_011521891.1:p.Asn651His
XM_011523590.1:c.1939A>C	XP_011521892.1:p.Asn647His
XM_011523591.1:c.1936A>C	XP_011521893.1:p.Asn646His
XM_011523592.1:c.1849A>C	XP_011521894.1:p.Asn617His
XM_011523593.1:c.1543A>C	XP_011521895.1:p.Asn515His
XM_011523594.1:c.1024A>C	XP_011521896.1:p.Asn342His
XM_011523595.1:c.991A>C	XP_011521897.1:p.Asn331His
XM_011523596.1:c.*27A>C	XP_011521898.1:n.*27A>C
XM_011523597.1:c.757A>C	XP_011521899.1:p.Asn253His
XM_011523598.1:c.754A>C	XP_011521900.1:p.Asn252His
XM_011523599.1:c.748A>C	XP_011521901.1:p.Asn250His
XM_011523600.1:c.610A>C	XP_011521902.1:p.Asn204His
XR_430033.2:n.2404A>C
XM_005256396.4:c.2245A>C	XP_005256453.1:p.Asn749His
XM_005256399.5:c.1012A>C	XP_005256456.1:p.Asn338His
XM_005256404.4:c.610A>C	XP_005256461.1:p.Asn204His
XM_006722291.4:c.1000A>C	XP_006722354.1:p.Asn334His
XM_006722292.3:c.610A>C	XP_006722355.1:p.Asn204His
XM_011523589.2:c.1951A>C	XP_011521891.1:p.Asn651His
XM_011523591.2:c.1936A>C	XP_011521893.1:p.Asn646His
XM_011523593.2:c.1543A>C	XP_011521895.1:p.Asn515His
XM_011523594.2:c.1024A>C	XP_011521896.1:p.Asn342His
XM_011523595.3:c.991A>C	XP_011521897.1:p.Asn331His
XM_011523597.2:c.757A>C	XP_011521899.1:p.Asn253His
XM_011523599.2:c.748A>C	XP_011521901.1:p.Asn250His
XM_011523600.3:c.610A>C	XP_011521902.1:p.Asn204His
XM_017024987.1:c.2107A>C	XP_016880476.1:p.Asn703His
XM_017024989.1:c.658A>C	XP_016880478.1:p.Asn220His
XM_017024990.2:c.610A>C	XP_016880479.1:p.Asn204His
XM_024450899.1:c.610A>C	XP_024306667.1:p.Asn204His
XM_024450900.1:c.610A>C	XP_024306668.1:p.Asn204His
XM_024450901.1:c.610A>C	XP_024306669.1:p.Asn204His
XM_024450902.1:c.610A>C	XP_024306670.1:p.Asn204His
XR_001752597.1:n.2404A>C
XR_001752598.1:n.2404A>C
XR_001752599.1:n.2404A>C
XR_001752600.1:n.2322A>C
NM_005993.5:c.2296A>C MANE Select	NP_005984.3:p.Asn766His