Canonical Allele Identifier: CA401633307

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882842A>C (hg19) ; chr17:g.82924966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924966A>C , CM000679.2:g.82924966A>C	GRCh38
NC_000017.10:g.80882842A>C , CM000679.1:g.80882842A>C	GRCh37
NC_000017.9:g.78476131A>C	NCBI36
NG_011721.1:g.177903A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1496A>C
ENST00000576677.6:n.1417A>C
ENST00000681983.1:n.2424A>C
ENST00000682099.1:n.1185A>C
ENST00000682213.1:c.*259A>C	ENSP00000508166.1:n.*259A>C
ENST00000682315.1:c.602A>C	ENSP00000507232.1:p.Glu201Ala
ENST00000682479.1:c.2378A>C	ENSP00000508214.1:p.Glu793Ala
ENST00000682610.1:n.1528A>C
ENST00000682654.1:c.*259A>C	ENSP00000507412.1:n.*259A>C
ENST00000682722.1:c.2237A>C	ENSP00000508364.1:p.Glu746Ala
ENST00000683041.1:c.*259A>C	ENSP00000506994.1:n.*259A>C
ENST00000683184.1:c.*1941A>C	ENSP00000507757.1:n.*1941A>C
ENST00000683282.1:c.2204A>C	ENSP00000506913.1:p.Glu735Ala
ENST00000683444.1:c.*1865A>C	ENSP00000507553.1:n.*1865A>C
ENST00000683584.1:n.1111A>C
ENST00000683821.1:c.602A>C	ENSP00000507651.1:p.Glu201Ala
ENST00000683839.1:n.1742A>C
ENST00000684000.1:c.2372A>C	ENSP00000506795.1:p.Glu791Ala
ENST00000684188.1:c.2099A>C	ENSP00000507153.1:p.Glu700Ala
ENST00000684349.1:c.2474A>C	ENSP00000508067.1:p.Glu825Ala
ENST00000684361.1:c.2288A>C	ENSP00000507364.1:p.Glu763Ala
ENST00000684408.1:c.1931A>C	ENSP00000506837.1:p.Glu644Ala
ENST00000684429.1:c.2216A>C	ENSP00000507224.1:p.Glu739Ala
ENST00000684464.1:c.2381A>C	ENSP00000508333.1:p.Glu794Ala
ENST00000684544.1:c.2207A>C	ENSP00000507337.1:p.Glu736Ala
ENST00000684559.1:n.1043A>C
ENST00000684760.1:c.2555A>C	ENSP00000507696.1:p.Glu852Ala
ENST00000684776.1:c.*771A>C	ENSP00000507861.1:n.*771A>C
ENST00000355528.9:c.2288A>C MANE Select	ENSP00000347719.4:p.Glu763Ala
ENST00000355528.8:c.2288A>C	ENSP00000347719.4:p.Glu763Ala
ENST00000539345.6:c.2288A>C	ENSP00000440671.2:p.Glu763Ala
ENST00000571618.5:n.466A>C
ENST00000571796.5:n.946A>C
ENST00000574422.1:c.602A>C	ENSP00000458599.1:p.Glu201Ala
ENST00000574818.5:n.346A>C
ENST00000574886.1:n.672A>C
ENST00000574975.5:c.665A>C	ENSP00000461680.1:p.Glu222Ala
ENST00000576760.5:c.602A>C	ENSP00000460949.1:p.Glu201Ala
NM_005993.4:c.2288A>C	NP_005984.3:p.Glu763Ala
XM_005256396.3:c.2237A>C	XP_005256453.1:p.Glu746Ala
XM_005256399.3:c.1004A>C	XP_005256456.1:p.Glu335Ala
XM_005256400.3:c.602A>C	XP_005256457.1:p.Glu201Ala
XM_005256401.3:c.602A>C	XP_005256458.1:p.Glu201Ala
XM_005256402.3:c.602A>C	XP_005256459.1:p.Glu201Ala
XM_005256403.3:c.602A>C	XP_005256460.1:p.Glu201Ala
XM_005256404.3:c.602A>C	XP_005256461.1:p.Glu201Ala
XM_006722290.2:c.2207A>C	XP_006722353.1:p.Glu736Ala
XM_006722291.2:c.992A>C	XP_006722354.1:p.Glu331Ala
XM_006722292.2:c.602A>C	XP_006722355.1:p.Glu201Ala
XM_011523589.1:c.1943A>C	XP_011521891.1:p.Glu648Ala
XM_011523590.1:c.1931A>C	XP_011521892.1:p.Glu644Ala
XM_011523591.1:c.1928A>C	XP_011521893.1:p.Glu643Ala
XM_011523592.1:c.1841A>C	XP_011521894.1:p.Glu614Ala
XM_011523593.1:c.1535A>C	XP_011521895.1:p.Glu512Ala
XM_011523594.1:c.1016A>C	XP_011521896.1:p.Glu339Ala
XM_011523595.1:c.983A>C	XP_011521897.1:p.Glu328Ala
XM_011523596.1:c.*19A>C	XP_011521898.1:n.*19A>C
XM_011523597.1:c.749A>C	XP_011521899.1:p.Glu250Ala
XM_011523598.1:c.746A>C	XP_011521900.1:p.Glu249Ala
XM_011523599.1:c.740A>C	XP_011521901.1:p.Glu247Ala
XM_011523600.1:c.602A>C	XP_011521902.1:p.Glu201Ala
XR_430033.2:n.2396A>C
XM_005256396.4:c.2237A>C	XP_005256453.1:p.Glu746Ala
XM_005256399.5:c.1004A>C	XP_005256456.1:p.Glu335Ala
XM_005256404.4:c.602A>C	XP_005256461.1:p.Glu201Ala
XM_006722291.4:c.992A>C	XP_006722354.1:p.Glu331Ala
XM_006722292.3:c.602A>C	XP_006722355.1:p.Glu201Ala
XM_011523589.2:c.1943A>C	XP_011521891.1:p.Glu648Ala
XM_011523591.2:c.1928A>C	XP_011521893.1:p.Glu643Ala
XM_011523593.2:c.1535A>C	XP_011521895.1:p.Glu512Ala
XM_011523594.2:c.1016A>C	XP_011521896.1:p.Glu339Ala
XM_011523595.3:c.983A>C	XP_011521897.1:p.Glu328Ala
XM_011523597.2:c.749A>C	XP_011521899.1:p.Glu250Ala
XM_011523599.2:c.740A>C	XP_011521901.1:p.Glu247Ala
XM_011523600.3:c.602A>C	XP_011521902.1:p.Glu201Ala
XM_017024987.1:c.2099A>C	XP_016880476.1:p.Glu700Ala
XM_017024989.1:c.650A>C	XP_016880478.1:p.Glu217Ala
XM_017024990.2:c.602A>C	XP_016880479.1:p.Glu201Ala
XM_024450899.1:c.602A>C	XP_024306667.1:p.Glu201Ala
XM_024450900.1:c.602A>C	XP_024306668.1:p.Glu201Ala
XM_024450901.1:c.602A>C	XP_024306669.1:p.Glu201Ala
XM_024450902.1:c.602A>C	XP_024306670.1:p.Glu201Ala
XR_001752597.1:n.2396A>C
XR_001752598.1:n.2396A>C
XR_001752599.1:n.2396A>C
XR_001752600.1:n.2314A>C
NM_005993.5:c.2288A>C MANE Select	NP_005984.3:p.Glu763Ala