Canonical Allele Identifier: CA502597471

Gene: TBCD

Linked Data

• ClinVar Variation Id: 2993397
• ClinVar RCV Id: RCV003850492
• dbSNP Id: rs1192945381
• gnomAD v2: 17-80882921-C-G
• gnomAD v3: 17-82925045-C-G
• gnomAD v4: 17-82925045-C-G
• MyVariant Identifiers: chr17:g.80882921C>G (hg19) ; chr17:g.82925045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925045C>G , CM000679.2:g.82925045C>G	GRCh38
NC_000017.10:g.80882921C>G , CM000679.1:g.80882921C>G	GRCh37
NC_000017.9:g.78476210C>G	NCBI36
NG_011721.1:g.177982C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1575C>G
ENST00000576677.6:n.1496C>G
ENST00000681983.1:n.2503C>G
ENST00000682099.1:n.1264C>G
ENST00000682213.1:c.*338C>G	ENSP00000508166.1:n.*338C>G
ENST00000682315.1:c.681C>G	ENSP00000507232.1:p.Gly227=
ENST00000682479.1:c.2457C>G	ENSP00000508214.1:p.Gly819=
ENST00000682610.1:n.1607C>G
ENST00000682654.1:c.*338C>G	ENSP00000507412.1:n.*338C>G
ENST00000682722.1:c.2316C>G	ENSP00000508364.1:p.Gly772=
ENST00000683041.1:c.*338C>G	ENSP00000506994.1:n.*338C>G
ENST00000683184.1:c.*2020C>G	ENSP00000507757.1:n.*2020C>G
ENST00000683282.1:c.2283C>G	ENSP00000506913.1:p.Gly761=
ENST00000683444.1:c.*1944C>G	ENSP00000507553.1:n.*1944C>G
ENST00000683584.1:n.1190C>G
ENST00000683821.1:c.681C>G	ENSP00000507651.1:p.Gly227=
ENST00000683839.1:n.1821C>G
ENST00000684000.1:c.2451C>G	ENSP00000506795.1:p.Gly817=
ENST00000684188.1:c.2178C>G	ENSP00000507153.1:p.Gly726=
ENST00000684349.1:c.2553C>G	ENSP00000508067.1:p.Gly851=
ENST00000684361.1:c.2367C>G	ENSP00000507364.1:p.Gly789=
ENST00000684408.1:c.2010C>G	ENSP00000506837.1:p.Gly670=
ENST00000684429.1:c.2295C>G	ENSP00000507224.1:p.Gly765=
ENST00000684464.1:c.2460C>G	ENSP00000508333.1:p.Gly820=
ENST00000684544.1:c.2286C>G	ENSP00000507337.1:p.Gly762=
ENST00000684559.1:n.1122C>G
ENST00000684760.1:c.2634C>G	ENSP00000507696.1:p.Gly878=
ENST00000684776.1:c.*850C>G	ENSP00000507861.1:n.*850C>G
ENST00000355528.9:c.2367C>G MANE Select	ENSP00000347719.4:p.Gly789=
ENST00000355528.8:c.2367C>G	ENSP00000347719.4:p.Gly789=
ENST00000539345.6:c.2367C>G	ENSP00000440671.2:p.Gly789=
ENST00000571618.5:n.545C>G
ENST00000571796.5:n.1025C>G
ENST00000574422.1:c.681C>G	ENSP00000458599.1:p.Gly227=
ENST00000574818.5:n.425C>G
ENST00000574886.1:n.751C>G
ENST00000574975.5:c.744C>G	ENSP00000461680.1:p.Gly248=
ENST00000576760.5:c.681C>G	ENSP00000460949.1:p.Gly227=
NM_005993.4:c.2367C>G	NP_005984.3:p.Gly789=
XM_005256396.3:c.2316C>G	XP_005256453.1:p.Gly772=
XM_005256399.3:c.1083C>G	XP_005256456.1:p.Gly361=
XM_005256400.3:c.681C>G	XP_005256457.1:p.Gly227=
XM_005256401.3:c.681C>G	XP_005256458.1:p.Gly227=
XM_005256402.3:c.681C>G	XP_005256459.1:p.Gly227=
XM_005256403.3:c.681C>G	XP_005256460.1:p.Gly227=
XM_005256404.3:c.681C>G	XP_005256461.1:p.Gly227=
XM_006722290.2:c.2286C>G	XP_006722353.1:p.Gly762=
XM_006722291.2:c.1071C>G	XP_006722354.1:p.Gly357=
XM_006722292.2:c.681C>G	XP_006722355.1:p.Gly227=
XM_011523589.1:c.2022C>G	XP_011521891.1:p.Gly674=
XM_011523590.1:c.2010C>G	XP_011521892.1:p.Gly670=
XM_011523591.1:c.2007C>G	XP_011521893.1:p.Gly669=
XM_011523592.1:c.1920C>G	XP_011521894.1:p.Gly640=
XM_011523593.1:c.1614C>G	XP_011521895.1:p.Gly538=
XM_011523594.1:c.1095C>G	XP_011521896.1:p.Gly365=
XM_011523595.1:c.1062C>G	XP_011521897.1:p.Gly354=
XM_011523597.1:c.828C>G	XP_011521899.1:p.Gly276=
XM_011523598.1:c.825C>G	XP_011521900.1:p.Gly275=
XM_011523599.1:c.819C>G	XP_011521901.1:p.Gly273=
XM_011523600.1:c.681C>G	XP_011521902.1:p.Gly227=
XR_430033.2:n.2475C>G
XM_005256396.4:c.2316C>G	XP_005256453.1:p.Gly772=
XM_005256399.5:c.1083C>G	XP_005256456.1:p.Gly361=
XM_005256404.4:c.681C>G	XP_005256461.1:p.Gly227=
XM_006722291.4:c.1071C>G	XP_006722354.1:p.Gly357=
XM_006722292.3:c.681C>G	XP_006722355.1:p.Gly227=
XM_011523589.2:c.2022C>G	XP_011521891.1:p.Gly674=
XM_011523591.2:c.2007C>G	XP_011521893.1:p.Gly669=
XM_011523593.2:c.1614C>G	XP_011521895.1:p.Gly538=
XM_011523594.2:c.1095C>G	XP_011521896.1:p.Gly365=
XM_011523595.3:c.1062C>G	XP_011521897.1:p.Gly354=
XM_011523597.2:c.828C>G	XP_011521899.1:p.Gly276=
XM_011523599.2:c.819C>G	XP_011521901.1:p.Gly273=
XM_011523600.3:c.681C>G	XP_011521902.1:p.Gly227=
XM_017024987.1:c.2178C>G	XP_016880476.1:p.Gly726=
XM_017024989.1:c.729C>G	XP_016880478.1:p.Gly243=
XM_017024990.2:c.681C>G	XP_016880479.1:p.Gly227=
XM_024450899.1:c.681C>G	XP_024306667.1:p.Gly227=
XM_024450900.1:c.681C>G	XP_024306668.1:p.Gly227=
XM_024450901.1:c.681C>G	XP_024306669.1:p.Gly227=
XM_024450902.1:c.681C>G	XP_024306670.1:p.Gly227=
XR_001752597.1:n.2475C>G
XR_001752598.1:n.2475C>G
XR_001752599.1:n.2475C>G
XR_001752600.1:n.2393C>G
NM_005993.5:c.2367C>G MANE Select	NP_005984.3:p.Gly789=