Canonical Allele Identifier: CA401633299

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882838G>C (hg19) ; chr17:g.82924962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924962G>C , CM000679.2:g.82924962G>C	GRCh38
NC_000017.10:g.80882838G>C , CM000679.1:g.80882838G>C	GRCh37
NC_000017.9:g.78476127G>C	NCBI36
NG_011721.1:g.177899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1492G>C
ENST00000576677.6:n.1413G>C
ENST00000681983.1:n.2420G>C
ENST00000682099.1:n.1181G>C
ENST00000682213.1:c.*255G>C	ENSP00000508166.1:n.*255G>C
ENST00000682315.1:c.598G>C	ENSP00000507232.1:p.Ala200Pro
ENST00000682479.1:c.2374G>C	ENSP00000508214.1:p.Ala792Pro
ENST00000682610.1:n.1524G>C
ENST00000682654.1:c.*255G>C	ENSP00000507412.1:n.*255G>C
ENST00000682722.1:c.2233G>C	ENSP00000508364.1:p.Ala745Pro
ENST00000683041.1:c.*255G>C	ENSP00000506994.1:n.*255G>C
ENST00000683184.1:c.*1937G>C	ENSP00000507757.1:n.*1937G>C
ENST00000683282.1:c.2200G>C	ENSP00000506913.1:p.Ala734Pro
ENST00000683444.1:c.*1861G>C	ENSP00000507553.1:n.*1861G>C
ENST00000683584.1:n.1107G>C
ENST00000683821.1:c.598G>C	ENSP00000507651.1:p.Ala200Pro
ENST00000683839.1:n.1738G>C
ENST00000684000.1:c.2368G>C	ENSP00000506795.1:p.Ala790Pro
ENST00000684188.1:c.2095G>C	ENSP00000507153.1:p.Ala699Pro
ENST00000684349.1:c.2470G>C	ENSP00000508067.1:p.Ala824Pro
ENST00000684361.1:c.2284G>C	ENSP00000507364.1:p.Ala762Pro
ENST00000684408.1:c.1927G>C	ENSP00000506837.1:p.Ala643Pro
ENST00000684429.1:c.2212G>C	ENSP00000507224.1:p.Ala738Pro
ENST00000684464.1:c.2377G>C	ENSP00000508333.1:p.Ala793Pro
ENST00000684544.1:c.2203G>C	ENSP00000507337.1:p.Ala735Pro
ENST00000684559.1:n.1039G>C
ENST00000684760.1:c.2551G>C	ENSP00000507696.1:p.Ala851Pro
ENST00000684776.1:c.*767G>C	ENSP00000507861.1:n.*767G>C
ENST00000355528.9:c.2284G>C MANE Select	ENSP00000347719.4:p.Ala762Pro
ENST00000355528.8:c.2284G>C	ENSP00000347719.4:p.Ala762Pro
ENST00000539345.6:c.2284G>C	ENSP00000440671.2:p.Ala762Pro
ENST00000571618.5:n.462G>C
ENST00000571796.5:n.942G>C
ENST00000574422.1:c.598G>C	ENSP00000458599.1:p.Ala200Pro
ENST00000574818.5:n.342G>C
ENST00000574886.1:n.668G>C
ENST00000574975.5:c.661G>C	ENSP00000461680.1:p.Ala221Pro
ENST00000576760.5:c.598G>C	ENSP00000460949.1:p.Ala200Pro
NM_005993.4:c.2284G>C	NP_005984.3:p.Ala762Pro
XM_005256396.3:c.2233G>C	XP_005256453.1:p.Ala745Pro
XM_005256399.3:c.1000G>C	XP_005256456.1:p.Ala334Pro
XM_005256400.3:c.598G>C	XP_005256457.1:p.Ala200Pro
XM_005256401.3:c.598G>C	XP_005256458.1:p.Ala200Pro
XM_005256402.3:c.598G>C	XP_005256459.1:p.Ala200Pro
XM_005256403.3:c.598G>C	XP_005256460.1:p.Ala200Pro
XM_005256404.3:c.598G>C	XP_005256461.1:p.Ala200Pro
XM_006722290.2:c.2203G>C	XP_006722353.1:p.Ala735Pro
XM_006722291.2:c.988G>C	XP_006722354.1:p.Ala330Pro
XM_006722292.2:c.598G>C	XP_006722355.1:p.Ala200Pro
XM_011523589.1:c.1939G>C	XP_011521891.1:p.Ala647Pro
XM_011523590.1:c.1927G>C	XP_011521892.1:p.Ala643Pro
XM_011523591.1:c.1924G>C	XP_011521893.1:p.Ala642Pro
XM_011523592.1:c.1837G>C	XP_011521894.1:p.Ala613Pro
XM_011523593.1:c.1531G>C	XP_011521895.1:p.Ala511Pro
XM_011523594.1:c.1012G>C	XP_011521896.1:p.Ala338Pro
XM_011523595.1:c.979G>C	XP_011521897.1:p.Ala327Pro
XM_011523596.1:c.*15G>C	XP_011521898.1:n.*15G>C
XM_011523597.1:c.745G>C	XP_011521899.1:p.Ala249Pro
XM_011523598.1:c.742G>C	XP_011521900.1:p.Ala248Pro
XM_011523599.1:c.736G>C	XP_011521901.1:p.Ala246Pro
XM_011523600.1:c.598G>C	XP_011521902.1:p.Ala200Pro
XR_430033.2:n.2392G>C
XM_005256396.4:c.2233G>C	XP_005256453.1:p.Ala745Pro
XM_005256399.5:c.1000G>C	XP_005256456.1:p.Ala334Pro
XM_005256404.4:c.598G>C	XP_005256461.1:p.Ala200Pro
XM_006722291.4:c.988G>C	XP_006722354.1:p.Ala330Pro
XM_006722292.3:c.598G>C	XP_006722355.1:p.Ala200Pro
XM_011523589.2:c.1939G>C	XP_011521891.1:p.Ala647Pro
XM_011523591.2:c.1924G>C	XP_011521893.1:p.Ala642Pro
XM_011523593.2:c.1531G>C	XP_011521895.1:p.Ala511Pro
XM_011523594.2:c.1012G>C	XP_011521896.1:p.Ala338Pro
XM_011523595.3:c.979G>C	XP_011521897.1:p.Ala327Pro
XM_011523597.2:c.745G>C	XP_011521899.1:p.Ala249Pro
XM_011523599.2:c.736G>C	XP_011521901.1:p.Ala246Pro
XM_011523600.3:c.598G>C	XP_011521902.1:p.Ala200Pro
XM_017024987.1:c.2095G>C	XP_016880476.1:p.Ala699Pro
XM_017024989.1:c.646G>C	XP_016880478.1:p.Ala216Pro
XM_017024990.2:c.598G>C	XP_016880479.1:p.Ala200Pro
XM_024450899.1:c.598G>C	XP_024306667.1:p.Ala200Pro
XM_024450900.1:c.598G>C	XP_024306668.1:p.Ala200Pro
XM_024450901.1:c.598G>C	XP_024306669.1:p.Ala200Pro
XM_024450902.1:c.598G>C	XP_024306670.1:p.Ala200Pro
XR_001752597.1:n.2392G>C
XR_001752598.1:n.2392G>C
XR_001752599.1:n.2392G>C
XR_001752600.1:n.2310G>C
NM_005993.5:c.2284G>C MANE Select	NP_005984.3:p.Ala762Pro