Canonical Allele Identifier: CA401633390

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924985-G-C
• MyVariant Identifiers: chr17:g.80882861G>C (hg19) ; chr17:g.82924985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924985G>C , CM000679.2:g.82924985G>C	GRCh38
NC_000017.10:g.80882861G>C , CM000679.1:g.80882861G>C	GRCh37
NC_000017.9:g.78476150G>C	NCBI36
NG_011721.1:g.177922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1515G>C
ENST00000576677.6:n.1436G>C
ENST00000681983.1:n.2443G>C
ENST00000682099.1:n.1204G>C
ENST00000682213.1:c.*278G>C	ENSP00000508166.1:n.*278G>C
ENST00000682315.1:c.621G>C	ENSP00000507232.1:p.Glu207Asp
ENST00000682479.1:c.2397G>C	ENSP00000508214.1:p.Glu799Asp
ENST00000682610.1:n.1547G>C
ENST00000682654.1:c.*278G>C	ENSP00000507412.1:n.*278G>C
ENST00000682722.1:c.2256G>C	ENSP00000508364.1:p.Glu752Asp
ENST00000683041.1:c.*278G>C	ENSP00000506994.1:n.*278G>C
ENST00000683184.1:c.*1960G>C	ENSP00000507757.1:n.*1960G>C
ENST00000683282.1:c.2223G>C	ENSP00000506913.1:p.Glu741Asp
ENST00000683444.1:c.*1884G>C	ENSP00000507553.1:n.*1884G>C
ENST00000683584.1:n.1130G>C
ENST00000683821.1:c.621G>C	ENSP00000507651.1:p.Glu207Asp
ENST00000683839.1:n.1761G>C
ENST00000684000.1:c.2391G>C	ENSP00000506795.1:p.Glu797Asp
ENST00000684188.1:c.2118G>C	ENSP00000507153.1:p.Glu706Asp
ENST00000684349.1:c.2493G>C	ENSP00000508067.1:p.Glu831Asp
ENST00000684361.1:c.2307G>C	ENSP00000507364.1:p.Glu769Asp
ENST00000684408.1:c.1950G>C	ENSP00000506837.1:p.Glu650Asp
ENST00000684429.1:c.2235G>C	ENSP00000507224.1:p.Glu745Asp
ENST00000684464.1:c.2400G>C	ENSP00000508333.1:p.Glu800Asp
ENST00000684544.1:c.2226G>C	ENSP00000507337.1:p.Glu742Asp
ENST00000684559.1:n.1062G>C
ENST00000684760.1:c.2574G>C	ENSP00000507696.1:p.Glu858Asp
ENST00000684776.1:c.*790G>C	ENSP00000507861.1:n.*790G>C
ENST00000355528.9:c.2307G>C MANE Select	ENSP00000347719.4:p.Glu769Asp
ENST00000355528.8:c.2307G>C	ENSP00000347719.4:p.Glu769Asp
ENST00000539345.6:c.2307G>C	ENSP00000440671.2:p.Glu769Asp
ENST00000571618.5:n.485G>C
ENST00000571796.5:n.965G>C
ENST00000574422.1:c.621G>C	ENSP00000458599.1:p.Glu207Asp
ENST00000574818.5:n.365G>C
ENST00000574886.1:n.691G>C
ENST00000574975.5:c.684G>C	ENSP00000461680.1:p.Glu228Asp
ENST00000576760.5:c.621G>C	ENSP00000460949.1:p.Glu207Asp
NM_005993.4:c.2307G>C	NP_005984.3:p.Glu769Asp
XM_005256396.3:c.2256G>C	XP_005256453.1:p.Glu752Asp
XM_005256399.3:c.1023G>C	XP_005256456.1:p.Glu341Asp
XM_005256400.3:c.621G>C	XP_005256457.1:p.Glu207Asp
XM_005256401.3:c.621G>C	XP_005256458.1:p.Glu207Asp
XM_005256402.3:c.621G>C	XP_005256459.1:p.Glu207Asp
XM_005256403.3:c.621G>C	XP_005256460.1:p.Glu207Asp
XM_005256404.3:c.621G>C	XP_005256461.1:p.Glu207Asp
XM_006722290.2:c.2226G>C	XP_006722353.1:p.Glu742Asp
XM_006722291.2:c.1011G>C	XP_006722354.1:p.Glu337Asp
XM_006722292.2:c.621G>C	XP_006722355.1:p.Glu207Asp
XM_011523589.1:c.1962G>C	XP_011521891.1:p.Glu654Asp
XM_011523590.1:c.1950G>C	XP_011521892.1:p.Glu650Asp
XM_011523591.1:c.1947G>C	XP_011521893.1:p.Glu649Asp
XM_011523592.1:c.1860G>C	XP_011521894.1:p.Glu620Asp
XM_011523593.1:c.1554G>C	XP_011521895.1:p.Glu518Asp
XM_011523594.1:c.1035G>C	XP_011521896.1:p.Glu345Asp
XM_011523595.1:c.1002G>C	XP_011521897.1:p.Glu334Asp
XM_011523596.1:c.*38G>C	XP_011521898.1:n.*38G>C
XM_011523597.1:c.768G>C	XP_011521899.1:p.Glu256Asp
XM_011523598.1:c.765G>C	XP_011521900.1:p.Glu255Asp
XM_011523599.1:c.759G>C	XP_011521901.1:p.Glu253Asp
XM_011523600.1:c.621G>C	XP_011521902.1:p.Glu207Asp
XR_430033.2:n.2415G>C
XM_005256396.4:c.2256G>C	XP_005256453.1:p.Glu752Asp
XM_005256399.5:c.1023G>C	XP_005256456.1:p.Glu341Asp
XM_005256404.4:c.621G>C	XP_005256461.1:p.Glu207Asp
XM_006722291.4:c.1011G>C	XP_006722354.1:p.Glu337Asp
XM_006722292.3:c.621G>C	XP_006722355.1:p.Glu207Asp
XM_011523589.2:c.1962G>C	XP_011521891.1:p.Glu654Asp
XM_011523591.2:c.1947G>C	XP_011521893.1:p.Glu649Asp
XM_011523593.2:c.1554G>C	XP_011521895.1:p.Glu518Asp
XM_011523594.2:c.1035G>C	XP_011521896.1:p.Glu345Asp
XM_011523595.3:c.1002G>C	XP_011521897.1:p.Glu334Asp
XM_011523597.2:c.768G>C	XP_011521899.1:p.Glu256Asp
XM_011523599.2:c.759G>C	XP_011521901.1:p.Glu253Asp
XM_011523600.3:c.621G>C	XP_011521902.1:p.Glu207Asp
XM_017024987.1:c.2118G>C	XP_016880476.1:p.Glu706Asp
XM_017024989.1:c.669G>C	XP_016880478.1:p.Glu223Asp
XM_017024990.2:c.621G>C	XP_016880479.1:p.Glu207Asp
XM_024450899.1:c.621G>C	XP_024306667.1:p.Glu207Asp
XM_024450900.1:c.621G>C	XP_024306668.1:p.Glu207Asp
XM_024450901.1:c.621G>C	XP_024306669.1:p.Glu207Asp
XM_024450902.1:c.621G>C	XP_024306670.1:p.Glu207Asp
XR_001752597.1:n.2415G>C
XR_001752598.1:n.2415G>C
XR_001752599.1:n.2415G>C
XR_001752600.1:n.2333G>C
NM_005993.5:c.2307G>C MANE Select	NP_005984.3:p.Glu769Asp