Canonical Allele Identifier: CA401633523

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882890T>C (hg19) ; chr17:g.82925014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925014T>C , CM000679.2:g.82925014T>C	GRCh38
NC_000017.10:g.80882890T>C , CM000679.1:g.80882890T>C	GRCh37
NC_000017.9:g.78476179T>C	NCBI36
NG_011721.1:g.177951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1544T>C
ENST00000576677.6:n.1465T>C
ENST00000681983.1:n.2472T>C
ENST00000682099.1:n.1233T>C
ENST00000682213.1:c.*307T>C	ENSP00000508166.1:n.*307T>C
ENST00000682315.1:c.650T>C	ENSP00000507232.1:p.Leu217Ser
ENST00000682479.1:c.2426T>C	ENSP00000508214.1:p.Leu809Ser
ENST00000682610.1:n.1576T>C
ENST00000682654.1:c.*307T>C	ENSP00000507412.1:n.*307T>C
ENST00000682722.1:c.2285T>C	ENSP00000508364.1:p.Leu762Ser
ENST00000683041.1:c.*307T>C	ENSP00000506994.1:n.*307T>C
ENST00000683184.1:c.*1989T>C	ENSP00000507757.1:n.*1989T>C
ENST00000683282.1:c.2252T>C	ENSP00000506913.1:p.Leu751Ser
ENST00000683444.1:c.*1913T>C	ENSP00000507553.1:n.*1913T>C
ENST00000683584.1:n.1159T>C
ENST00000683821.1:c.650T>C	ENSP00000507651.1:p.Leu217Ser
ENST00000683839.1:n.1790T>C
ENST00000684000.1:c.2420T>C	ENSP00000506795.1:p.Leu807Ser
ENST00000684188.1:c.2147T>C	ENSP00000507153.1:p.Leu716Ser
ENST00000684349.1:c.2522T>C	ENSP00000508067.1:p.Leu841Ser
ENST00000684361.1:c.2336T>C	ENSP00000507364.1:p.Leu779Ser
ENST00000684408.1:c.1979T>C	ENSP00000506837.1:p.Leu660Ser
ENST00000684429.1:c.2264T>C	ENSP00000507224.1:p.Leu755Ser
ENST00000684464.1:c.2429T>C	ENSP00000508333.1:p.Leu810Ser
ENST00000684544.1:c.2255T>C	ENSP00000507337.1:p.Leu752Ser
ENST00000684559.1:n.1091T>C
ENST00000684760.1:c.2603T>C	ENSP00000507696.1:p.Leu868Ser
ENST00000684776.1:c.*819T>C	ENSP00000507861.1:n.*819T>C
ENST00000355528.9:c.2336T>C MANE Select	ENSP00000347719.4:p.Leu779Ser
ENST00000355528.8:c.2336T>C	ENSP00000347719.4:p.Leu779Ser
ENST00000539345.6:c.2336T>C	ENSP00000440671.2:p.Leu779Ser
ENST00000571618.5:n.514T>C
ENST00000571796.5:n.994T>C
ENST00000574422.1:c.650T>C	ENSP00000458599.1:p.Leu217Ser
ENST00000574818.5:n.394T>C
ENST00000574886.1:n.720T>C
ENST00000574975.5:c.713T>C	ENSP00000461680.1:p.Leu238Ser
ENST00000576760.5:c.650T>C	ENSP00000460949.1:p.Leu217Ser
NM_005993.4:c.2336T>C	NP_005984.3:p.Leu779Ser
XM_005256396.3:c.2285T>C	XP_005256453.1:p.Leu762Ser
XM_005256399.3:c.1052T>C	XP_005256456.1:p.Leu351Ser
XM_005256400.3:c.650T>C	XP_005256457.1:p.Leu217Ser
XM_005256401.3:c.650T>C	XP_005256458.1:p.Leu217Ser
XM_005256402.3:c.650T>C	XP_005256459.1:p.Leu217Ser
XM_005256403.3:c.650T>C	XP_005256460.1:p.Leu217Ser
XM_005256404.3:c.650T>C	XP_005256461.1:p.Leu217Ser
XM_006722290.2:c.2255T>C	XP_006722353.1:p.Leu752Ser
XM_006722291.2:c.1040T>C	XP_006722354.1:p.Leu347Ser
XM_006722292.2:c.650T>C	XP_006722355.1:p.Leu217Ser
XM_011523589.1:c.1991T>C	XP_011521891.1:p.Leu664Ser
XM_011523590.1:c.1979T>C	XP_011521892.1:p.Leu660Ser
XM_011523591.1:c.1976T>C	XP_011521893.1:p.Leu659Ser
XM_011523592.1:c.1889T>C	XP_011521894.1:p.Leu630Ser
XM_011523593.1:c.1583T>C	XP_011521895.1:p.Leu528Ser
XM_011523594.1:c.1064T>C	XP_011521896.1:p.Leu355Ser
XM_011523595.1:c.1031T>C	XP_011521897.1:p.Leu344Ser
XM_011523596.1:c.*67T>C	XP_011521898.1:n.*67T>C
XM_011523597.1:c.797T>C	XP_011521899.1:p.Leu266Ser
XM_011523598.1:c.794T>C	XP_011521900.1:p.Leu265Ser
XM_011523599.1:c.788T>C	XP_011521901.1:p.Leu263Ser
XM_011523600.1:c.650T>C	XP_011521902.1:p.Leu217Ser
XR_430033.2:n.2444T>C
XM_005256396.4:c.2285T>C	XP_005256453.1:p.Leu762Ser
XM_005256399.5:c.1052T>C	XP_005256456.1:p.Leu351Ser
XM_005256404.4:c.650T>C	XP_005256461.1:p.Leu217Ser
XM_006722291.4:c.1040T>C	XP_006722354.1:p.Leu347Ser
XM_006722292.3:c.650T>C	XP_006722355.1:p.Leu217Ser
XM_011523589.2:c.1991T>C	XP_011521891.1:p.Leu664Ser
XM_011523591.2:c.1976T>C	XP_011521893.1:p.Leu659Ser
XM_011523593.2:c.1583T>C	XP_011521895.1:p.Leu528Ser
XM_011523594.2:c.1064T>C	XP_011521896.1:p.Leu355Ser
XM_011523595.3:c.1031T>C	XP_011521897.1:p.Leu344Ser
XM_011523597.2:c.797T>C	XP_011521899.1:p.Leu266Ser
XM_011523599.2:c.788T>C	XP_011521901.1:p.Leu263Ser
XM_011523600.3:c.650T>C	XP_011521902.1:p.Leu217Ser
XM_017024987.1:c.2147T>C	XP_016880476.1:p.Leu716Ser
XM_017024989.1:c.698T>C	XP_016880478.1:p.Leu233Ser
XM_017024990.2:c.650T>C	XP_016880479.1:p.Leu217Ser
XM_024450899.1:c.650T>C	XP_024306667.1:p.Leu217Ser
XM_024450900.1:c.650T>C	XP_024306668.1:p.Leu217Ser
XM_024450901.1:c.650T>C	XP_024306669.1:p.Leu217Ser
XM_024450902.1:c.650T>C	XP_024306670.1:p.Leu217Ser
XR_001752597.1:n.2444T>C
XR_001752598.1:n.2444T>C
XR_001752599.1:n.2444T>C
XR_001752600.1:n.2362T>C
NM_005993.5:c.2336T>C MANE Select	NP_005984.3:p.Leu779Ser