Canonical Allele Identifier: CA8863019

Gene: TBCD

Linked Data

• ClinVar Variation Id: 2702692
• ClinVar RCV Id: RCV003577499
• dbSNP Id: rs553037834
• ExAC: 17:80882867 T / C
• gnomAD v2: 17-80882867-T-C
• gnomAD v3: 17-82924991-T-C
• gnomAD v4: 17-82924991-T-C
• MyVariant Identifiers: chr17:g.80882867T>C (hg19) ; chr17:g.82924991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924991T>C , CM000679.2:g.82924991T>C	GRCh38
NC_000017.10:g.80882867T>C , CM000679.1:g.80882867T>C	GRCh37
NC_000017.9:g.78476156T>C	NCBI36
NG_011721.1:g.177928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1521T>C
ENST00000576677.6:n.1442T>C
ENST00000681983.1:n.2449T>C
ENST00000682099.1:n.1210T>C
ENST00000682213.1:c.*284T>C	ENSP00000508166.1:n.*284T>C
ENST00000682315.1:c.627T>C	ENSP00000507232.1:p.Thr209=
ENST00000682479.1:c.2403T>C	ENSP00000508214.1:p.Thr801=
ENST00000682610.1:n.1553T>C
ENST00000682654.1:c.*284T>C	ENSP00000507412.1:n.*284T>C
ENST00000682722.1:c.2262T>C	ENSP00000508364.1:p.Thr754=
ENST00000683041.1:c.*284T>C	ENSP00000506994.1:n.*284T>C
ENST00000683184.1:c.*1966T>C	ENSP00000507757.1:n.*1966T>C
ENST00000683282.1:c.2229T>C	ENSP00000506913.1:p.Thr743=
ENST00000683444.1:c.*1890T>C	ENSP00000507553.1:n.*1890T>C
ENST00000683584.1:n.1136T>C
ENST00000683821.1:c.627T>C	ENSP00000507651.1:p.Thr209=
ENST00000683839.1:n.1767T>C
ENST00000684000.1:c.2397T>C	ENSP00000506795.1:p.Thr799=
ENST00000684188.1:c.2124T>C	ENSP00000507153.1:p.Thr708=
ENST00000684349.1:c.2499T>C	ENSP00000508067.1:p.Thr833=
ENST00000684361.1:c.2313T>C	ENSP00000507364.1:p.Thr771=
ENST00000684408.1:c.1956T>C	ENSP00000506837.1:p.Thr652=
ENST00000684429.1:c.2241T>C	ENSP00000507224.1:p.Thr747=
ENST00000684464.1:c.2406T>C	ENSP00000508333.1:p.Thr802=
ENST00000684544.1:c.2232T>C	ENSP00000507337.1:p.Thr744=
ENST00000684559.1:n.1068T>C
ENST00000684760.1:c.2580T>C	ENSP00000507696.1:p.Thr860=
ENST00000684776.1:c.*796T>C	ENSP00000507861.1:n.*796T>C
ENST00000355528.9:c.2313T>C MANE Select	ENSP00000347719.4:p.Thr771=
ENST00000355528.8:c.2313T>C	ENSP00000347719.4:p.Thr771=
ENST00000539345.6:c.2313T>C	ENSP00000440671.2:p.Thr771=
ENST00000571618.5:n.491T>C
ENST00000571796.5:n.971T>C
ENST00000574422.1:c.627T>C	ENSP00000458599.1:p.Thr209=
ENST00000574818.5:n.371T>C
ENST00000574886.1:n.697T>C
ENST00000574975.5:c.690T>C	ENSP00000461680.1:p.Thr230=
ENST00000576760.5:c.627T>C	ENSP00000460949.1:p.Thr209=
NM_005993.4:c.2313T>C	NP_005984.3:p.Thr771=
XM_005256396.3:c.2262T>C	XP_005256453.1:p.Thr754=
XM_005256399.3:c.1029T>C	XP_005256456.1:p.Thr343=
XM_005256400.3:c.627T>C	XP_005256457.1:p.Thr209=
XM_005256401.3:c.627T>C	XP_005256458.1:p.Thr209=
XM_005256402.3:c.627T>C	XP_005256459.1:p.Thr209=
XM_005256403.3:c.627T>C	XP_005256460.1:p.Thr209=
XM_005256404.3:c.627T>C	XP_005256461.1:p.Thr209=
XM_006722290.2:c.2232T>C	XP_006722353.1:p.Thr744=
XM_006722291.2:c.1017T>C	XP_006722354.1:p.Thr339=
XM_006722292.2:c.627T>C	XP_006722355.1:p.Thr209=
XM_011523589.1:c.1968T>C	XP_011521891.1:p.Thr656=
XM_011523590.1:c.1956T>C	XP_011521892.1:p.Thr652=
XM_011523591.1:c.1953T>C	XP_011521893.1:p.Thr651=
XM_011523592.1:c.1866T>C	XP_011521894.1:p.Thr622=
XM_011523593.1:c.1560T>C	XP_011521895.1:p.Thr520=
XM_011523594.1:c.1041T>C	XP_011521896.1:p.Thr347=
XM_011523595.1:c.1008T>C	XP_011521897.1:p.Thr336=
XM_011523596.1:c.*44T>C	XP_011521898.1:n.*44T>C
XM_011523597.1:c.774T>C	XP_011521899.1:p.Thr258=
XM_011523598.1:c.771T>C	XP_011521900.1:p.Thr257=
XM_011523599.1:c.765T>C	XP_011521901.1:p.Thr255=
XM_011523600.1:c.627T>C	XP_011521902.1:p.Thr209=
XR_430033.2:n.2421T>C
XM_005256396.4:c.2262T>C	XP_005256453.1:p.Thr754=
XM_005256399.5:c.1029T>C	XP_005256456.1:p.Thr343=
XM_005256404.4:c.627T>C	XP_005256461.1:p.Thr209=
XM_006722291.4:c.1017T>C	XP_006722354.1:p.Thr339=
XM_006722292.3:c.627T>C	XP_006722355.1:p.Thr209=
XM_011523589.2:c.1968T>C	XP_011521891.1:p.Thr656=
XM_011523591.2:c.1953T>C	XP_011521893.1:p.Thr651=
XM_011523593.2:c.1560T>C	XP_011521895.1:p.Thr520=
XM_011523594.2:c.1041T>C	XP_011521896.1:p.Thr347=
XM_011523595.3:c.1008T>C	XP_011521897.1:p.Thr336=
XM_011523597.2:c.774T>C	XP_011521899.1:p.Thr258=
XM_011523599.2:c.765T>C	XP_011521901.1:p.Thr255=
XM_011523600.3:c.627T>C	XP_011521902.1:p.Thr209=
XM_017024987.1:c.2124T>C	XP_016880476.1:p.Thr708=
XM_017024989.1:c.675T>C	XP_016880478.1:p.Thr225=
XM_017024990.2:c.627T>C	XP_016880479.1:p.Thr209=
XM_024450899.1:c.627T>C	XP_024306667.1:p.Thr209=
XM_024450900.1:c.627T>C	XP_024306668.1:p.Thr209=
XM_024450901.1:c.627T>C	XP_024306669.1:p.Thr209=
XM_024450902.1:c.627T>C	XP_024306670.1:p.Thr209=
XR_001752597.1:n.2421T>C
XR_001752598.1:n.2421T>C
XR_001752599.1:n.2421T>C
XR_001752600.1:n.2339T>C
NM_005993.5:c.2313T>C MANE Select	NP_005984.3:p.Thr771=