Canonical Allele Identifier: CA401633314

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924967-G-T
• MyVariant Identifiers: chr17:g.80882843G>T (hg19) ; chr17:g.82924967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924967G>T , CM000679.2:g.82924967G>T	GRCh38
NC_000017.10:g.80882843G>T , CM000679.1:g.80882843G>T	GRCh37
NC_000017.9:g.78476132G>T	NCBI36
NG_011721.1:g.177904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1497G>T
ENST00000576677.6:n.1418G>T
ENST00000681983.1:n.2425G>T
ENST00000682099.1:n.1186G>T
ENST00000682213.1:c.*260G>T	ENSP00000508166.1:n.*260G>T
ENST00000682315.1:c.603G>T	ENSP00000507232.1:p.Glu201Asp
ENST00000682479.1:c.2379G>T	ENSP00000508214.1:p.Glu793Asp
ENST00000682610.1:n.1529G>T
ENST00000682654.1:c.*260G>T	ENSP00000507412.1:n.*260G>T
ENST00000682722.1:c.2238G>T	ENSP00000508364.1:p.Glu746Asp
ENST00000683041.1:c.*260G>T	ENSP00000506994.1:n.*260G>T
ENST00000683184.1:c.*1942G>T	ENSP00000507757.1:n.*1942G>T
ENST00000683282.1:c.2205G>T	ENSP00000506913.1:p.Glu735Asp
ENST00000683444.1:c.*1866G>T	ENSP00000507553.1:n.*1866G>T
ENST00000683584.1:n.1112G>T
ENST00000683821.1:c.603G>T	ENSP00000507651.1:p.Glu201Asp
ENST00000683839.1:n.1743G>T
ENST00000684000.1:c.2373G>T	ENSP00000506795.1:p.Glu791Asp
ENST00000684188.1:c.2100G>T	ENSP00000507153.1:p.Glu700Asp
ENST00000684349.1:c.2475G>T	ENSP00000508067.1:p.Glu825Asp
ENST00000684361.1:c.2289G>T	ENSP00000507364.1:p.Glu763Asp
ENST00000684408.1:c.1932G>T	ENSP00000506837.1:p.Glu644Asp
ENST00000684429.1:c.2217G>T	ENSP00000507224.1:p.Glu739Asp
ENST00000684464.1:c.2382G>T	ENSP00000508333.1:p.Glu794Asp
ENST00000684544.1:c.2208G>T	ENSP00000507337.1:p.Glu736Asp
ENST00000684559.1:n.1044G>T
ENST00000684760.1:c.2556G>T	ENSP00000507696.1:p.Glu852Asp
ENST00000684776.1:c.*772G>T	ENSP00000507861.1:n.*772G>T
ENST00000355528.9:c.2289G>T MANE Select	ENSP00000347719.4:p.Glu763Asp
ENST00000355528.8:c.2289G>T	ENSP00000347719.4:p.Glu763Asp
ENST00000539345.6:c.2289G>T	ENSP00000440671.2:p.Glu763Asp
ENST00000571618.5:n.467G>T
ENST00000571796.5:n.947G>T
ENST00000574422.1:c.603G>T	ENSP00000458599.1:p.Glu201Asp
ENST00000574818.5:n.347G>T
ENST00000574886.1:n.673G>T
ENST00000574975.5:c.666G>T	ENSP00000461680.1:p.Glu222Asp
ENST00000576760.5:c.603G>T	ENSP00000460949.1:p.Glu201Asp
NM_005993.4:c.2289G>T	NP_005984.3:p.Glu763Asp
XM_005256396.3:c.2238G>T	XP_005256453.1:p.Glu746Asp
XM_005256399.3:c.1005G>T	XP_005256456.1:p.Glu335Asp
XM_005256400.3:c.603G>T	XP_005256457.1:p.Glu201Asp
XM_005256401.3:c.603G>T	XP_005256458.1:p.Glu201Asp
XM_005256402.3:c.603G>T	XP_005256459.1:p.Glu201Asp
XM_005256403.3:c.603G>T	XP_005256460.1:p.Glu201Asp
XM_005256404.3:c.603G>T	XP_005256461.1:p.Glu201Asp
XM_006722290.2:c.2208G>T	XP_006722353.1:p.Glu736Asp
XM_006722291.2:c.993G>T	XP_006722354.1:p.Glu331Asp
XM_006722292.2:c.603G>T	XP_006722355.1:p.Glu201Asp
XM_011523589.1:c.1944G>T	XP_011521891.1:p.Glu648Asp
XM_011523590.1:c.1932G>T	XP_011521892.1:p.Glu644Asp
XM_011523591.1:c.1929G>T	XP_011521893.1:p.Glu643Asp
XM_011523592.1:c.1842G>T	XP_011521894.1:p.Glu614Asp
XM_011523593.1:c.1536G>T	XP_011521895.1:p.Glu512Asp
XM_011523594.1:c.1017G>T	XP_011521896.1:p.Glu339Asp
XM_011523595.1:c.984G>T	XP_011521897.1:p.Glu328Asp
XM_011523596.1:c.*20G>T	XP_011521898.1:n.*20G>T
XM_011523597.1:c.750G>T	XP_011521899.1:p.Glu250Asp
XM_011523598.1:c.747G>T	XP_011521900.1:p.Glu249Asp
XM_011523599.1:c.741G>T	XP_011521901.1:p.Glu247Asp
XM_011523600.1:c.603G>T	XP_011521902.1:p.Glu201Asp
XR_430033.2:n.2397G>T
XM_005256396.4:c.2238G>T	XP_005256453.1:p.Glu746Asp
XM_005256399.5:c.1005G>T	XP_005256456.1:p.Glu335Asp
XM_005256404.4:c.603G>T	XP_005256461.1:p.Glu201Asp
XM_006722291.4:c.993G>T	XP_006722354.1:p.Glu331Asp
XM_006722292.3:c.603G>T	XP_006722355.1:p.Glu201Asp
XM_011523589.2:c.1944G>T	XP_011521891.1:p.Glu648Asp
XM_011523591.2:c.1929G>T	XP_011521893.1:p.Glu643Asp
XM_011523593.2:c.1536G>T	XP_011521895.1:p.Glu512Asp
XM_011523594.2:c.1017G>T	XP_011521896.1:p.Glu339Asp
XM_011523595.3:c.984G>T	XP_011521897.1:p.Glu328Asp
XM_011523597.2:c.750G>T	XP_011521899.1:p.Glu250Asp
XM_011523599.2:c.741G>T	XP_011521901.1:p.Glu247Asp
XM_011523600.3:c.603G>T	XP_011521902.1:p.Glu201Asp
XM_017024987.1:c.2100G>T	XP_016880476.1:p.Glu700Asp
XM_017024989.1:c.651G>T	XP_016880478.1:p.Glu217Asp
XM_017024990.2:c.603G>T	XP_016880479.1:p.Glu201Asp
XM_024450899.1:c.603G>T	XP_024306667.1:p.Glu201Asp
XM_024450900.1:c.603G>T	XP_024306668.1:p.Glu201Asp
XM_024450901.1:c.603G>T	XP_024306669.1:p.Glu201Asp
XM_024450902.1:c.603G>T	XP_024306670.1:p.Glu201Asp
XR_001752597.1:n.2397G>T
XR_001752598.1:n.2397G>T
XR_001752599.1:n.2397G>T
XR_001752600.1:n.2315G>T
NM_005993.5:c.2289G>T MANE Select	NP_005984.3:p.Glu763Asp