Canonical Allele Identifier: CA502597473

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925046-C-A
• MyVariant Identifiers: chr17:g.80882922C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925046C>A , CM000679.2:g.82925046C>A	GRCh38
NC_000017.10:g.80882922C>A , CM000679.1:g.80882922C>A	GRCh37
NC_000017.9:g.78476211C>A	NCBI36
NG_011721.1:g.177983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1576C>A
ENST00000576677.6:n.1497C>A
ENST00000681983.1:n.2504C>A
ENST00000682099.1:n.1265C>A
ENST00000682213.1:c.*339C>A	ENSP00000508166.1:n.*339C>A
ENST00000682315.1:c.682C>A	ENSP00000507232.1:p.Arg228=
ENST00000682479.1:c.2458C>A	ENSP00000508214.1:p.Arg820=
ENST00000682610.1:n.1608C>A
ENST00000682654.1:c.*339C>A	ENSP00000507412.1:n.*339C>A
ENST00000682722.1:c.2317C>A	ENSP00000508364.1:p.Arg773=
ENST00000683041.1:c.*339C>A	ENSP00000506994.1:n.*339C>A
ENST00000683184.1:c.*2021C>A	ENSP00000507757.1:n.*2021C>A
ENST00000683282.1:c.2284C>A	ENSP00000506913.1:p.Arg762=
ENST00000683444.1:c.*1945C>A	ENSP00000507553.1:n.*1945C>A
ENST00000683584.1:n.1191C>A
ENST00000683821.1:c.682C>A	ENSP00000507651.1:p.Arg228=
ENST00000683839.1:n.1822C>A
ENST00000684000.1:c.2452C>A	ENSP00000506795.1:p.Arg818=
ENST00000684188.1:c.2179C>A	ENSP00000507153.1:p.Arg727=
ENST00000684349.1:c.2554C>A	ENSP00000508067.1:p.Arg852=
ENST00000684361.1:c.2368C>A	ENSP00000507364.1:p.Arg790=
ENST00000684408.1:c.2011C>A	ENSP00000506837.1:p.Arg671=
ENST00000684429.1:c.2296C>A	ENSP00000507224.1:p.Arg766=
ENST00000684464.1:c.2461C>A	ENSP00000508333.1:p.Arg821=
ENST00000684544.1:c.2287C>A	ENSP00000507337.1:p.Arg763=
ENST00000684559.1:n.1123C>A
ENST00000684760.1:c.2635C>A	ENSP00000507696.1:p.Arg879=
ENST00000684776.1:c.*851C>A	ENSP00000507861.1:n.*851C>A
ENST00000355528.9:c.2368C>A MANE Select	ENSP00000347719.4:p.Arg790=
ENST00000355528.8:c.2368C>A	ENSP00000347719.4:p.Arg790=
ENST00000539345.6:c.2368C>A	ENSP00000440671.2:p.Arg790=
ENST00000571618.5:n.546C>A
ENST00000571796.5:n.1026C>A
ENST00000574422.1:c.682C>A	ENSP00000458599.1:p.Arg228=
ENST00000574818.5:n.426C>A
ENST00000574886.1:n.752C>A
ENST00000574975.5:c.745C>A	ENSP00000461680.1:p.Arg249=
ENST00000576760.5:c.682C>A	ENSP00000460949.1:p.Arg228=
NM_005993.4:c.2368C>A	NP_005984.3:p.Arg790=
XM_005256396.3:c.2317C>A	XP_005256453.1:p.Arg773=
XM_005256399.3:c.1084C>A	XP_005256456.1:p.Arg362=
XM_005256400.3:c.682C>A	XP_005256457.1:p.Arg228=
XM_005256401.3:c.682C>A	XP_005256458.1:p.Arg228=
XM_005256402.3:c.682C>A	XP_005256459.1:p.Arg228=
XM_005256403.3:c.682C>A	XP_005256460.1:p.Arg228=
XM_005256404.3:c.682C>A	XP_005256461.1:p.Arg228=
XM_006722290.2:c.2287C>A	XP_006722353.1:p.Arg763=
XM_006722291.2:c.1072C>A	XP_006722354.1:p.Arg358=
XM_006722292.2:c.682C>A	XP_006722355.1:p.Arg228=
XM_011523589.1:c.2023C>A	XP_011521891.1:p.Arg675=
XM_011523590.1:c.2011C>A	XP_011521892.1:p.Arg671=
XM_011523591.1:c.2008C>A	XP_011521893.1:p.Arg670=
XM_011523592.1:c.1921C>A	XP_011521894.1:p.Arg641=
XM_011523593.1:c.1615C>A	XP_011521895.1:p.Arg539=
XM_011523594.1:c.1096C>A	XP_011521896.1:p.Arg366=
XM_011523595.1:c.1063C>A	XP_011521897.1:p.Arg355=
XM_011523597.1:c.829C>A	XP_011521899.1:p.Arg277=
XM_011523598.1:c.826C>A	XP_011521900.1:p.Arg276=
XM_011523599.1:c.820C>A	XP_011521901.1:p.Arg274=
XM_011523600.1:c.682C>A	XP_011521902.1:p.Arg228=
XR_430033.2:n.2476C>A
XM_005256396.4:c.2317C>A	XP_005256453.1:p.Arg773=
XM_005256399.5:c.1084C>A	XP_005256456.1:p.Arg362=
XM_005256404.4:c.682C>A	XP_005256461.1:p.Arg228=
XM_006722291.4:c.1072C>A	XP_006722354.1:p.Arg358=
XM_006722292.3:c.682C>A	XP_006722355.1:p.Arg228=
XM_011523589.2:c.2023C>A	XP_011521891.1:p.Arg675=
XM_011523591.2:c.2008C>A	XP_011521893.1:p.Arg670=
XM_011523593.2:c.1615C>A	XP_011521895.1:p.Arg539=
XM_011523594.2:c.1096C>A	XP_011521896.1:p.Arg366=
XM_011523595.3:c.1063C>A	XP_011521897.1:p.Arg355=
XM_011523597.2:c.829C>A	XP_011521899.1:p.Arg277=
XM_011523599.2:c.820C>A	XP_011521901.1:p.Arg274=
XM_011523600.3:c.682C>A	XP_011521902.1:p.Arg228=
XM_017024987.1:c.2179C>A	XP_016880476.1:p.Arg727=
XM_017024989.1:c.730C>A	XP_016880478.1:p.Arg244=
XM_017024990.2:c.682C>A	XP_016880479.1:p.Arg228=
XM_024450899.1:c.682C>A	XP_024306667.1:p.Arg228=
XM_024450900.1:c.682C>A	XP_024306668.1:p.Arg228=
XM_024450901.1:c.682C>A	XP_024306669.1:p.Arg228=
XM_024450902.1:c.682C>A	XP_024306670.1:p.Arg228=
XR_001752597.1:n.2476C>A
XR_001752598.1:n.2476C>A
XR_001752599.1:n.2476C>A
XR_001752600.1:n.2394C>A
NM_005993.5:c.2368C>A MANE Select	NP_005984.3:p.Arg790=