Canonical Allele Identifier: CA2640719404

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924816-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924816G>T , CM000679.2:g.82924816G>T	GRCh38
NC_000017.10:g.80882692G>T , CM000679.1:g.80882692G>T	GRCh37
NC_000017.9:g.78475981G>T	NCBI36
NG_011721.1:g.177753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1469-123G>T
ENST00000576677.6:n.1390-123G>T
ENST00000681983.1:n.2397-123G>T
ENST00000682099.1:n.1158-123G>T
ENST00000682213.1:c.*232-123G>T	ENSP00000508166.1:n.*232-123G>T
ENST00000682315.1:c.575-123G>T	ENSP00000507232.1:n.575-123G>T
ENST00000682479.1:c.2351-123G>T	ENSP00000508214.1:n.2351-123G>T
ENST00000682610.1:n.1501-123G>T
ENST00000682654.1:c.*232-123G>T	ENSP00000507412.1:n.*232-123G>T
ENST00000682722.1:c.2210-123G>T	ENSP00000508364.1:n.2210-123G>T
ENST00000683041.1:c.*232-123G>T	ENSP00000506994.1:n.*232-123G>T
ENST00000683184.1:c.*1914-123G>T	ENSP00000507757.1:n.*1914-123G>T
ENST00000683282.1:c.2177-123G>T	ENSP00000506913.1:n.2177-123G>T
ENST00000683444.1:c.*1838-123G>T	ENSP00000507553.1:n.*1838-123G>T
ENST00000683584.1:n.1084-123G>T
ENST00000683821.1:c.575-123G>T	ENSP00000507651.1:n.575-123G>T
ENST00000683839.1:n.1715-123G>T
ENST00000684000.1:c.2345-123G>T	ENSP00000506795.1:n.2345-123G>T
ENST00000684188.1:c.2072-123G>T	ENSP00000507153.1:n.2072-123G>T
ENST00000684349.1:c.2447-123G>T	ENSP00000508067.1:n.2447-123G>T
ENST00000684361.1:c.2261-123G>T	ENSP00000507364.1:n.2261-123G>T
ENST00000684408.1:c.1904-123G>T	ENSP00000506837.1:n.1904-123G>T
ENST00000684429.1:c.2189-123G>T	ENSP00000507224.1:n.2189-123G>T
ENST00000684464.1:c.2354-123G>T	ENSP00000508333.1:n.2354-123G>T
ENST00000684544.1:c.2180-123G>T	ENSP00000507337.1:n.2180-123G>T
ENST00000684559.1:n.1016-123G>T
ENST00000684760.1:c.2528-123G>T	ENSP00000507696.1:n.2528-123G>T
ENST00000684776.1:c.*744-123G>T	ENSP00000507861.1:n.*744-123G>T
ENST00000355528.9:c.2261-123G>T MANE Select	ENSP00000347719.4:n.2261-123G>T
ENST00000355528.8:c.2261-123G>T	ENSP00000347719.4:n.2261-123G>T
ENST00000539345.6:c.2261-123G>T	ENSP00000440671.2:n.2261-123G>T
ENST00000571618.5:n.439-123G>T
ENST00000571796.5:n.919-123G>T
ENST00000574422.1:c.575-123G>T	ENSP00000458599.1:n.575-123G>T
ENST00000574818.5:n.319-123G>T
ENST00000574886.1:n.645-123G>T
ENST00000574975.5:c.638-123G>T	ENSP00000461680.1:n.638-123G>T
ENST00000576760.5:c.575-123G>T	ENSP00000460949.1:n.575-123G>T
NM_005993.4:c.2261-123G>T	NP_005984.3:n.2261-123G>T
XM_005256396.3:c.2210-123G>T	XP_005256453.1:n.2210-123G>T
XM_005256399.3:c.977-123G>T	XP_005256456.1:n.977-123G>T
XM_005256400.3:c.575-123G>T	XP_005256457.1:n.575-123G>T
XM_005256401.3:c.575-123G>T	XP_005256458.1:n.575-123G>T
XM_005256402.3:c.575-123G>T	XP_005256459.1:n.575-123G>T
XM_005256403.3:c.575-123G>T	XP_005256460.1:n.575-123G>T
XM_005256404.3:c.575-123G>T	XP_005256461.1:n.575-123G>T
XM_006722290.2:c.2180-123G>T	XP_006722353.1:n.2180-123G>T
XM_006722291.2:c.965-123G>T	XP_006722354.1:n.965-123G>T
XM_006722292.2:c.575-123G>T	XP_006722355.1:n.575-123G>T
XM_011523589.1:c.1916-123G>T	XP_011521891.1:n.1916-123G>T
XM_011523590.1:c.1904-123G>T	XP_011521892.1:n.1904-123G>T
XM_011523591.1:c.1901-123G>T	XP_011521893.1:n.1901-123G>T
XM_011523592.1:c.1814-123G>T	XP_011521894.1:n.1814-123G>T
XM_011523593.1:c.1508-123G>T	XP_011521895.1:n.1508-123G>T
XM_011523594.1:c.989-123G>T	XP_011521896.1:n.989-123G>T
XM_011523595.1:c.956-123G>T	XP_011521897.1:n.956-123G>T
XM_011523596.1:c.2179-123G>T	XP_011521898.1:n.2179-123G>T
XM_011523597.1:c.722-123G>T	XP_011521899.1:n.722-123G>T
XM_011523598.1:c.719-123G>T	XP_011521900.1:n.719-123G>T
XM_011523599.1:c.713-123G>T	XP_011521901.1:n.713-123G>T
XM_011523600.1:c.575-123G>T	XP_011521902.1:n.575-123G>T
XR_430033.2:n.2369-123G>T
XM_005256396.4:c.2210-123G>T	XP_005256453.1:n.2210-123G>T
XM_005256399.5:c.977-123G>T	XP_005256456.1:n.977-123G>T
XM_005256404.4:c.575-123G>T	XP_005256461.1:n.575-123G>T
XM_006722291.4:c.965-123G>T	XP_006722354.1:n.965-123G>T
XM_006722292.3:c.575-123G>T	XP_006722355.1:n.575-123G>T
XM_011523589.2:c.1916-123G>T	XP_011521891.1:n.1916-123G>T
XM_011523591.2:c.1901-123G>T	XP_011521893.1:n.1901-123G>T
XM_011523593.2:c.1508-123G>T	XP_011521895.1:n.1508-123G>T
XM_011523594.2:c.989-123G>T	XP_011521896.1:n.989-123G>T
XM_011523595.3:c.956-123G>T	XP_011521897.1:n.956-123G>T
XM_011523597.2:c.722-123G>T	XP_011521899.1:n.722-123G>T
XM_011523599.2:c.713-123G>T	XP_011521901.1:n.713-123G>T
XM_011523600.3:c.575-123G>T	XP_011521902.1:n.575-123G>T
XM_017024987.1:c.2072-123G>T	XP_016880476.1:n.2072-123G>T
XM_017024989.1:c.623-123G>T	XP_016880478.1:n.623-123G>T
XM_017024990.2:c.575-123G>T	XP_016880479.1:n.575-123G>T
XM_024450899.1:c.575-123G>T	XP_024306667.1:n.575-123G>T
XM_024450900.1:c.575-123G>T	XP_024306668.1:n.575-123G>T
XM_024450901.1:c.575-123G>T	XP_024306669.1:n.575-123G>T
XM_024450902.1:c.575-123G>T	XP_024306670.1:n.575-123G>T
XR_001752597.1:n.2369-123G>T
XR_001752598.1:n.2369-123G>T
XR_001752599.1:n.2369-123G>T
XR_001752600.1:n.2287-123G>T
NM_005993.5:c.2261-123G>T MANE Select	NP_005984.3:n.2261-123G>T