Canonical Allele Identifier: CA401633515

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882887C>T (hg19) ; chr17:g.82925011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925011C>T , CM000679.2:g.82925011C>T	GRCh38
NC_000017.10:g.80882887C>T , CM000679.1:g.80882887C>T	GRCh37
NC_000017.9:g.78476176C>T	NCBI36
NG_011721.1:g.177948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1541C>T
ENST00000576677.6:n.1462C>T
ENST00000681983.1:n.2469C>T
ENST00000682099.1:n.1230C>T
ENST00000682213.1:c.*304C>T	ENSP00000508166.1:n.*304C>T
ENST00000682315.1:c.647C>T	ENSP00000507232.1:p.Ala216Val
ENST00000682479.1:c.2423C>T	ENSP00000508214.1:p.Ala808Val
ENST00000682610.1:n.1573C>T
ENST00000682654.1:c.*304C>T	ENSP00000507412.1:n.*304C>T
ENST00000682722.1:c.2282C>T	ENSP00000508364.1:p.Ala761Val
ENST00000683041.1:c.*304C>T	ENSP00000506994.1:n.*304C>T
ENST00000683184.1:c.*1986C>T	ENSP00000507757.1:n.*1986C>T
ENST00000683282.1:c.2249C>T	ENSP00000506913.1:p.Ala750Val
ENST00000683444.1:c.*1910C>T	ENSP00000507553.1:n.*1910C>T
ENST00000683584.1:n.1156C>T
ENST00000683821.1:c.647C>T	ENSP00000507651.1:p.Ala216Val
ENST00000683839.1:n.1787C>T
ENST00000684000.1:c.2417C>T	ENSP00000506795.1:p.Ala806Val
ENST00000684188.1:c.2144C>T	ENSP00000507153.1:p.Ala715Val
ENST00000684349.1:c.2519C>T	ENSP00000508067.1:p.Ala840Val
ENST00000684361.1:c.2333C>T	ENSP00000507364.1:p.Ala778Val
ENST00000684408.1:c.1976C>T	ENSP00000506837.1:p.Ala659Val
ENST00000684429.1:c.2261C>T	ENSP00000507224.1:p.Ala754Val
ENST00000684464.1:c.2426C>T	ENSP00000508333.1:p.Ala809Val
ENST00000684544.1:c.2252C>T	ENSP00000507337.1:p.Ala751Val
ENST00000684559.1:n.1088C>T
ENST00000684760.1:c.2600C>T	ENSP00000507696.1:p.Ala867Val
ENST00000684776.1:c.*816C>T	ENSP00000507861.1:n.*816C>T
ENST00000355528.9:c.2333C>T MANE Select	ENSP00000347719.4:p.Ala778Val
ENST00000355528.8:c.2333C>T	ENSP00000347719.4:p.Ala778Val
ENST00000539345.6:c.2333C>T	ENSP00000440671.2:p.Ala778Val
ENST00000571618.5:n.511C>T
ENST00000571796.5:n.991C>T
ENST00000574422.1:c.647C>T	ENSP00000458599.1:p.Ala216Val
ENST00000574818.5:n.391C>T
ENST00000574886.1:n.717C>T
ENST00000574975.5:c.710C>T	ENSP00000461680.1:p.Ala237Val
ENST00000576760.5:c.647C>T	ENSP00000460949.1:p.Ala216Val
NM_005993.4:c.2333C>T	NP_005984.3:p.Ala778Val
XM_005256396.3:c.2282C>T	XP_005256453.1:p.Ala761Val
XM_005256399.3:c.1049C>T	XP_005256456.1:p.Ala350Val
XM_005256400.3:c.647C>T	XP_005256457.1:p.Ala216Val
XM_005256401.3:c.647C>T	XP_005256458.1:p.Ala216Val
XM_005256402.3:c.647C>T	XP_005256459.1:p.Ala216Val
XM_005256403.3:c.647C>T	XP_005256460.1:p.Ala216Val
XM_005256404.3:c.647C>T	XP_005256461.1:p.Ala216Val
XM_006722290.2:c.2252C>T	XP_006722353.1:p.Ala751Val
XM_006722291.2:c.1037C>T	XP_006722354.1:p.Ala346Val
XM_006722292.2:c.647C>T	XP_006722355.1:p.Ala216Val
XM_011523589.1:c.1988C>T	XP_011521891.1:p.Ala663Val
XM_011523590.1:c.1976C>T	XP_011521892.1:p.Ala659Val
XM_011523591.1:c.1973C>T	XP_011521893.1:p.Ala658Val
XM_011523592.1:c.1886C>T	XP_011521894.1:p.Ala629Val
XM_011523593.1:c.1580C>T	XP_011521895.1:p.Ala527Val
XM_011523594.1:c.1061C>T	XP_011521896.1:p.Ala354Val
XM_011523595.1:c.1028C>T	XP_011521897.1:p.Ala343Val
XM_011523596.1:c.*64C>T	XP_011521898.1:n.*64C>T
XM_011523597.1:c.794C>T	XP_011521899.1:p.Ala265Val
XM_011523598.1:c.791C>T	XP_011521900.1:p.Ala264Val
XM_011523599.1:c.785C>T	XP_011521901.1:p.Ala262Val
XM_011523600.1:c.647C>T	XP_011521902.1:p.Ala216Val
XR_430033.2:n.2441C>T
XM_005256396.4:c.2282C>T	XP_005256453.1:p.Ala761Val
XM_005256399.5:c.1049C>T	XP_005256456.1:p.Ala350Val
XM_005256404.4:c.647C>T	XP_005256461.1:p.Ala216Val
XM_006722291.4:c.1037C>T	XP_006722354.1:p.Ala346Val
XM_006722292.3:c.647C>T	XP_006722355.1:p.Ala216Val
XM_011523589.2:c.1988C>T	XP_011521891.1:p.Ala663Val
XM_011523591.2:c.1973C>T	XP_011521893.1:p.Ala658Val
XM_011523593.2:c.1580C>T	XP_011521895.1:p.Ala527Val
XM_011523594.2:c.1061C>T	XP_011521896.1:p.Ala354Val
XM_011523595.3:c.1028C>T	XP_011521897.1:p.Ala343Val
XM_011523597.2:c.794C>T	XP_011521899.1:p.Ala265Val
XM_011523599.2:c.785C>T	XP_011521901.1:p.Ala262Val
XM_011523600.3:c.647C>T	XP_011521902.1:p.Ala216Val
XM_017024987.1:c.2144C>T	XP_016880476.1:p.Ala715Val
XM_017024989.1:c.695C>T	XP_016880478.1:p.Ala232Val
XM_017024990.2:c.647C>T	XP_016880479.1:p.Ala216Val
XM_024450899.1:c.647C>T	XP_024306667.1:p.Ala216Val
XM_024450900.1:c.647C>T	XP_024306668.1:p.Ala216Val
XM_024450901.1:c.647C>T	XP_024306669.1:p.Ala216Val
XM_024450902.1:c.647C>T	XP_024306670.1:p.Ala216Val
XR_001752597.1:n.2441C>T
XR_001752598.1:n.2441C>T
XR_001752599.1:n.2441C>T
XR_001752600.1:n.2359C>T
NM_005993.5:c.2333C>T MANE Select	NP_005984.3:p.Ala778Val