Canonical Allele Identifier: CA8862636

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82889670C>T , CM000679.2:g.82889670C>T	GRCh38
NC_000017.10:g.80847546C>T , CM000679.1:g.80847546C>T	GRCh37
NC_000017.9:g.78440835C>T	NCBI36
NG_011721.1:g.142607C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005993.5:c.1536C>T MANE Select	NP_005984.3:p.Ala512=
ENST00000355528.9:c.1536C>T MANE Select	ENSP00000347719.4:p.Ala512=
NM_005993.4:c.1536C>T	NP_005984.3:p.Ala512=
ENST00000355528.8:c.1536C>T	ENSP00000347719.4:p.Ala512=
ENST00000539345.6:c.1536C>T	ENSP00000440671.2:p.Ala512=
ENST00000571316.5:c.54C>T	ENSP00000458365.1:p.Ala18=
ENST00000571712.5:c.-208C>T	ENSP00000459063.1:n.-208C>T
ENST00000572984.5:c.-151C>T	ENSP00000461167.1:n.-151C>T
ENST00000574801.5:n.352+5468C>T
ENST00000576160.6:c.-151C>T	ENSP00000458535.2:n.-151C>T
ENST00000576760.5:c.-151C>T	ENSP00000460949.1:n.-151C>T
ENST00000576996.5:c.-151C>T	ENSP00000460450.1:n.-151C>T
ENST00000681983.1:n.1672C>T
ENST00000682099.1:n.433C>T
ENST00000682213.1:c.1536C>T	ENSP00000508166.1:p.Ala512=
ENST00000682479.1:c.1626C>T	ENSP00000508214.1:p.Ala542=
ENST00000682610.1:n.776C>T
ENST00000682654.1:c.-151C>T	ENSP00000507412.1:n.-151C>T
ENST00000682722.1:c.1485C>T	ENSP00000508364.1:p.Ala495=
ENST00000682921.1:n.1458C>T
ENST00000683009.1:n.1656C>T
ENST00000683041.1:c.1536C>T	ENSP00000506994.1:p.Ala512=
ENST00000683184.1:c.*1189C>T	ENSP00000507757.1:n.*1189C>T
ENST00000683282.1:c.1536C>T	ENSP00000506913.1:p.Ala512=
ENST00000683444.1:c.*1113C>T	ENSP00000507553.1:n.*1113C>T
ENST00000683584.1:n.359C>T
ENST00000683821.1:c.-151C>T	ENSP00000507651.1:n.-151C>T
ENST00000684000.1:c.1620C>T	ENSP00000506795.1:p.Ala540=
ENST00000684188.1:c.1347C>T	ENSP00000507153.1:p.Ala449=
ENST00000684349.1:c.1536C>T	ENSP00000508067.1:p.Ala512=
ENST00000684361.1:c.1536C>T	ENSP00000507364.1:p.Ala512=
ENST00000684408.1:c.1536C>T	ENSP00000506837.1:p.Ala512=
ENST00000684429.1:c.1464C>T	ENSP00000507224.1:p.Ala488=
ENST00000684464.1:c.1536C>T	ENSP00000508333.1:p.Ala512=
ENST00000684544.1:c.1536C>T	ENSP00000507337.1:p.Ala512=
ENST00000684559.1:n.291C>T
ENST00000684760.1:c.1536C>T	ENSP00000507696.1:p.Ala512=
ENST00000684776.1:c.*100C>T	ENSP00000507861.1:n.*100C>T
XM_005256396.3:c.1485C>T	XP_005256453.1:p.Ala495=
XM_005256396.4:c.1485C>T	XP_005256453.1:p.Ala495=
XM_005256399.3:c.252C>T	XP_005256456.1:p.Ala84=
XM_005256399.5:c.252C>T	XP_005256456.1:p.Ala84=
XM_005256400.3:c.-151C>T	XP_005256457.1:n.-151C>T
XM_005256401.3:c.-151C>T	XP_005256458.1:n.-151C>T
XM_005256402.3:c.-151C>T	XP_005256459.1:n.-151C>T
XM_005256403.3:c.-151C>T	XP_005256460.1:n.-151C>T
XM_005256404.3:c.-151C>T	XP_005256461.1:n.-151C>T
XM_005256404.4:c.-151C>T	XP_005256461.1:n.-151C>T
XM_006722290.2:c.1536C>T	XP_006722353.1:p.Ala512=
XM_006722291.2:c.240C>T	XP_006722354.1:p.Ala80=
XM_006722291.4:c.240C>T	XP_006722354.1:p.Ala80=
XM_006722292.2:c.-151C>T	XP_006722355.1:n.-151C>T
XM_006722292.3:c.-151C>T	XP_006722355.1:n.-151C>T
XM_011523589.1:c.1191C>T	XP_011521891.1:p.Ala397=
XM_011523589.2:c.1191C>T	XP_011521891.1:p.Ala397=
XM_011523590.1:c.1536C>T	XP_011521892.1:p.Ala512=
XM_011523591.1:c.1176C>T	XP_011521893.1:p.Ala392=
XM_011523591.2:c.1176C>T	XP_011521893.1:p.Ala392=
XM_011523592.1:c.1089C>T	XP_011521894.1:p.Ala363=
XM_011523593.1:c.783C>T	XP_011521895.1:p.Ala261=
XM_011523593.2:c.783C>T	XP_011521895.1:p.Ala261=
XM_011523594.1:c.264C>T	XP_011521896.1:p.Ala88=
XM_011523594.2:c.264C>T	XP_011521896.1:p.Ala88=
XM_011523595.1:c.231C>T	XP_011521897.1:p.Ala77=
XM_011523595.3:c.231C>T	XP_011521897.1:p.Ala77=
XM_011523596.1:c.1536C>T	XP_011521898.1:p.Ala512=
XM_011523600.1:c.-151C>T	XP_011521902.1:n.-151C>T
XM_011523600.3:c.-151C>T	XP_011521902.1:n.-151C>T
XM_017024987.1:c.1347C>T	XP_016880476.1:p.Ala449=
XM_017024988.1:c.1536C>T	XP_016880477.1:p.Ala512=
XM_017024990.2:c.-151C>T	XP_016880479.1:n.-151C>T
XM_024450899.1:c.-151C>T	XP_024306667.1:n.-151C>T
XM_024450900.1:c.-151C>T	XP_024306668.1:n.-151C>T
XM_024450901.1:c.-151C>T	XP_024306669.1:n.-151C>T
XM_024450902.1:c.-151C>T	XP_024306670.1:n.-151C>T
XR_001752597.1:n.1644C>T
XR_001752598.1:n.1644C>T
XR_001752599.1:n.1644C>T
XR_001752600.1:n.1644C>T
XR_430033.2:n.1644C>T