Canonical Allele Identifier: CA401633647

Gene: TBCD

Linked Data

• ClinVar Variation Id: 2230666
• ClinVar RCV Id: RCV002717718
• MyVariant Identifiers: chr17:g.80882920G>C (hg19) ; chr17:g.82925044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925044G>C , CM000679.2:g.82925044G>C	GRCh38
NC_000017.10:g.80882920G>C , CM000679.1:g.80882920G>C	GRCh37
NC_000017.9:g.78476209G>C	NCBI36
NG_011721.1:g.177981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1574G>C
ENST00000576677.6:n.1495G>C
ENST00000681983.1:n.2502G>C
ENST00000682099.1:n.1263G>C
ENST00000682213.1:c.*337G>C	ENSP00000508166.1:n.*337G>C
ENST00000682315.1:c.680G>C	ENSP00000507232.1:p.Gly227Ala
ENST00000682479.1:c.2456G>C	ENSP00000508214.1:p.Gly819Ala
ENST00000682610.1:n.1606G>C
ENST00000682654.1:c.*337G>C	ENSP00000507412.1:n.*337G>C
ENST00000682722.1:c.2315G>C	ENSP00000508364.1:p.Gly772Ala
ENST00000683041.1:c.*337G>C	ENSP00000506994.1:n.*337G>C
ENST00000683184.1:c.*2019G>C	ENSP00000507757.1:n.*2019G>C
ENST00000683282.1:c.2282G>C	ENSP00000506913.1:p.Gly761Ala
ENST00000683444.1:c.*1943G>C	ENSP00000507553.1:n.*1943G>C
ENST00000683584.1:n.1189G>C
ENST00000683821.1:c.680G>C	ENSP00000507651.1:p.Gly227Ala
ENST00000683839.1:n.1820G>C
ENST00000684000.1:c.2450G>C	ENSP00000506795.1:p.Gly817Ala
ENST00000684188.1:c.2177G>C	ENSP00000507153.1:p.Gly726Ala
ENST00000684349.1:c.2552G>C	ENSP00000508067.1:p.Gly851Ala
ENST00000684361.1:c.2366G>C	ENSP00000507364.1:p.Gly789Ala
ENST00000684408.1:c.2009G>C	ENSP00000506837.1:p.Gly670Ala
ENST00000684429.1:c.2294G>C	ENSP00000507224.1:p.Gly765Ala
ENST00000684464.1:c.2459G>C	ENSP00000508333.1:p.Gly820Ala
ENST00000684544.1:c.2285G>C	ENSP00000507337.1:p.Gly762Ala
ENST00000684559.1:n.1121G>C
ENST00000684760.1:c.2633G>C	ENSP00000507696.1:p.Gly878Ala
ENST00000684776.1:c.*849G>C	ENSP00000507861.1:n.*849G>C
ENST00000355528.9:c.2366G>C MANE Select	ENSP00000347719.4:p.Gly789Ala
ENST00000355528.8:c.2366G>C	ENSP00000347719.4:p.Gly789Ala
ENST00000539345.6:c.2366G>C	ENSP00000440671.2:p.Gly789Ala
ENST00000571618.5:n.544G>C
ENST00000571796.5:n.1024G>C
ENST00000574422.1:c.680G>C	ENSP00000458599.1:p.Gly227Ala
ENST00000574818.5:n.424G>C
ENST00000574886.1:n.750G>C
ENST00000574975.5:c.743G>C	ENSP00000461680.1:p.Gly248Ala
ENST00000576760.5:c.680G>C	ENSP00000460949.1:p.Gly227Ala
NM_005993.4:c.2366G>C	NP_005984.3:p.Gly789Ala
XM_005256396.3:c.2315G>C	XP_005256453.1:p.Gly772Ala
XM_005256399.3:c.1082G>C	XP_005256456.1:p.Gly361Ala
XM_005256400.3:c.680G>C	XP_005256457.1:p.Gly227Ala
XM_005256401.3:c.680G>C	XP_005256458.1:p.Gly227Ala
XM_005256402.3:c.680G>C	XP_005256459.1:p.Gly227Ala
XM_005256403.3:c.680G>C	XP_005256460.1:p.Gly227Ala
XM_005256404.3:c.680G>C	XP_005256461.1:p.Gly227Ala
XM_006722290.2:c.2285G>C	XP_006722353.1:p.Gly762Ala
XM_006722291.2:c.1070G>C	XP_006722354.1:p.Gly357Ala
XM_006722292.2:c.680G>C	XP_006722355.1:p.Gly227Ala
XM_011523589.1:c.2021G>C	XP_011521891.1:p.Gly674Ala
XM_011523590.1:c.2009G>C	XP_011521892.1:p.Gly670Ala
XM_011523591.1:c.2006G>C	XP_011521893.1:p.Gly669Ala
XM_011523592.1:c.1919G>C	XP_011521894.1:p.Gly640Ala
XM_011523593.1:c.1613G>C	XP_011521895.1:p.Gly538Ala
XM_011523594.1:c.1094G>C	XP_011521896.1:p.Gly365Ala
XM_011523595.1:c.1061G>C	XP_011521897.1:p.Gly354Ala
XM_011523597.1:c.827G>C	XP_011521899.1:p.Gly276Ala
XM_011523598.1:c.824G>C	XP_011521900.1:p.Gly275Ala
XM_011523599.1:c.818G>C	XP_011521901.1:p.Gly273Ala
XM_011523600.1:c.680G>C	XP_011521902.1:p.Gly227Ala
XR_430033.2:n.2474G>C
XM_005256396.4:c.2315G>C	XP_005256453.1:p.Gly772Ala
XM_005256399.5:c.1082G>C	XP_005256456.1:p.Gly361Ala
XM_005256404.4:c.680G>C	XP_005256461.1:p.Gly227Ala
XM_006722291.4:c.1070G>C	XP_006722354.1:p.Gly357Ala
XM_006722292.3:c.680G>C	XP_006722355.1:p.Gly227Ala
XM_011523589.2:c.2021G>C	XP_011521891.1:p.Gly674Ala
XM_011523591.2:c.2006G>C	XP_011521893.1:p.Gly669Ala
XM_011523593.2:c.1613G>C	XP_011521895.1:p.Gly538Ala
XM_011523594.2:c.1094G>C	XP_011521896.1:p.Gly365Ala
XM_011523595.3:c.1061G>C	XP_011521897.1:p.Gly354Ala
XM_011523597.2:c.827G>C	XP_011521899.1:p.Gly276Ala
XM_011523599.2:c.818G>C	XP_011521901.1:p.Gly273Ala
XM_011523600.3:c.680G>C	XP_011521902.1:p.Gly227Ala
XM_017024987.1:c.2177G>C	XP_016880476.1:p.Gly726Ala
XM_017024989.1:c.728G>C	XP_016880478.1:p.Gly243Ala
XM_017024990.2:c.680G>C	XP_016880479.1:p.Gly227Ala
XM_024450899.1:c.680G>C	XP_024306667.1:p.Gly227Ala
XM_024450900.1:c.680G>C	XP_024306668.1:p.Gly227Ala
XM_024450901.1:c.680G>C	XP_024306669.1:p.Gly227Ala
XM_024450902.1:c.680G>C	XP_024306670.1:p.Gly227Ala
XR_001752597.1:n.2474G>C
XR_001752598.1:n.2474G>C
XR_001752599.1:n.2474G>C
XR_001752600.1:n.2392G>C
NM_005993.5:c.2366G>C MANE Select	NP_005984.3:p.Gly789Ala