Canonical Allele Identifier: CA401633497

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882884T>C (hg19) ; chr17:g.82925008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925008T>C , CM000679.2:g.82925008T>C	GRCh38
NC_000017.10:g.80882884T>C , CM000679.1:g.80882884T>C	GRCh37
NC_000017.9:g.78476173T>C	NCBI36
NG_011721.1:g.177945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1538T>C
ENST00000576677.6:n.1459T>C
ENST00000681983.1:n.2466T>C
ENST00000682099.1:n.1227T>C
ENST00000682213.1:c.*301T>C	ENSP00000508166.1:n.*301T>C
ENST00000682315.1:c.644T>C	ENSP00000507232.1:p.Leu215Ser
ENST00000682479.1:c.2420T>C	ENSP00000508214.1:p.Leu807Ser
ENST00000682610.1:n.1570T>C
ENST00000682654.1:c.*301T>C	ENSP00000507412.1:n.*301T>C
ENST00000682722.1:c.2279T>C	ENSP00000508364.1:p.Leu760Ser
ENST00000683041.1:c.*301T>C	ENSP00000506994.1:n.*301T>C
ENST00000683184.1:c.*1983T>C	ENSP00000507757.1:n.*1983T>C
ENST00000683282.1:c.2246T>C	ENSP00000506913.1:p.Leu749Ser
ENST00000683444.1:c.*1907T>C	ENSP00000507553.1:n.*1907T>C
ENST00000683584.1:n.1153T>C
ENST00000683821.1:c.644T>C	ENSP00000507651.1:p.Leu215Ser
ENST00000683839.1:n.1784T>C
ENST00000684000.1:c.2414T>C	ENSP00000506795.1:p.Leu805Ser
ENST00000684188.1:c.2141T>C	ENSP00000507153.1:p.Leu714Ser
ENST00000684349.1:c.2516T>C	ENSP00000508067.1:p.Leu839Ser
ENST00000684361.1:c.2330T>C	ENSP00000507364.1:p.Leu777Ser
ENST00000684408.1:c.1973T>C	ENSP00000506837.1:p.Leu658Ser
ENST00000684429.1:c.2258T>C	ENSP00000507224.1:p.Leu753Ser
ENST00000684464.1:c.2423T>C	ENSP00000508333.1:p.Leu808Ser
ENST00000684544.1:c.2249T>C	ENSP00000507337.1:p.Leu750Ser
ENST00000684559.1:n.1085T>C
ENST00000684760.1:c.2597T>C	ENSP00000507696.1:p.Leu866Ser
ENST00000684776.1:c.*813T>C	ENSP00000507861.1:n.*813T>C
ENST00000355528.9:c.2330T>C MANE Select	ENSP00000347719.4:p.Leu777Ser
ENST00000355528.8:c.2330T>C	ENSP00000347719.4:p.Leu777Ser
ENST00000539345.6:c.2330T>C	ENSP00000440671.2:p.Leu777Ser
ENST00000571618.5:n.508T>C
ENST00000571796.5:n.988T>C
ENST00000574422.1:c.644T>C	ENSP00000458599.1:p.Leu215Ser
ENST00000574818.5:n.388T>C
ENST00000574886.1:n.714T>C
ENST00000574975.5:c.707T>C	ENSP00000461680.1:p.Leu236Ser
ENST00000576760.5:c.644T>C	ENSP00000460949.1:p.Leu215Ser
NM_005993.4:c.2330T>C	NP_005984.3:p.Leu777Ser
XM_005256396.3:c.2279T>C	XP_005256453.1:p.Leu760Ser
XM_005256399.3:c.1046T>C	XP_005256456.1:p.Leu349Ser
XM_005256400.3:c.644T>C	XP_005256457.1:p.Leu215Ser
XM_005256401.3:c.644T>C	XP_005256458.1:p.Leu215Ser
XM_005256402.3:c.644T>C	XP_005256459.1:p.Leu215Ser
XM_005256403.3:c.644T>C	XP_005256460.1:p.Leu215Ser
XM_005256404.3:c.644T>C	XP_005256461.1:p.Leu215Ser
XM_006722290.2:c.2249T>C	XP_006722353.1:p.Leu750Ser
XM_006722291.2:c.1034T>C	XP_006722354.1:p.Leu345Ser
XM_006722292.2:c.644T>C	XP_006722355.1:p.Leu215Ser
XM_011523589.1:c.1985T>C	XP_011521891.1:p.Leu662Ser
XM_011523590.1:c.1973T>C	XP_011521892.1:p.Leu658Ser
XM_011523591.1:c.1970T>C	XP_011521893.1:p.Leu657Ser
XM_011523592.1:c.1883T>C	XP_011521894.1:p.Leu628Ser
XM_011523593.1:c.1577T>C	XP_011521895.1:p.Leu526Ser
XM_011523594.1:c.1058T>C	XP_011521896.1:p.Leu353Ser
XM_011523595.1:c.1025T>C	XP_011521897.1:p.Leu342Ser
XM_011523596.1:c.*61T>C	XP_011521898.1:n.*61T>C
XM_011523597.1:c.791T>C	XP_011521899.1:p.Leu264Ser
XM_011523598.1:c.788T>C	XP_011521900.1:p.Leu263Ser
XM_011523599.1:c.782T>C	XP_011521901.1:p.Leu261Ser
XM_011523600.1:c.644T>C	XP_011521902.1:p.Leu215Ser
XR_430033.2:n.2438T>C
XM_005256396.4:c.2279T>C	XP_005256453.1:p.Leu760Ser
XM_005256399.5:c.1046T>C	XP_005256456.1:p.Leu349Ser
XM_005256404.4:c.644T>C	XP_005256461.1:p.Leu215Ser
XM_006722291.4:c.1034T>C	XP_006722354.1:p.Leu345Ser
XM_006722292.3:c.644T>C	XP_006722355.1:p.Leu215Ser
XM_011523589.2:c.1985T>C	XP_011521891.1:p.Leu662Ser
XM_011523591.2:c.1970T>C	XP_011521893.1:p.Leu657Ser
XM_011523593.2:c.1577T>C	XP_011521895.1:p.Leu526Ser
XM_011523594.2:c.1058T>C	XP_011521896.1:p.Leu353Ser
XM_011523595.3:c.1025T>C	XP_011521897.1:p.Leu342Ser
XM_011523597.2:c.791T>C	XP_011521899.1:p.Leu264Ser
XM_011523599.2:c.782T>C	XP_011521901.1:p.Leu261Ser
XM_011523600.3:c.644T>C	XP_011521902.1:p.Leu215Ser
XM_017024987.1:c.2141T>C	XP_016880476.1:p.Leu714Ser
XM_017024989.1:c.692T>C	XP_016880478.1:p.Leu231Ser
XM_017024990.2:c.644T>C	XP_016880479.1:p.Leu215Ser
XM_024450899.1:c.644T>C	XP_024306667.1:p.Leu215Ser
XM_024450900.1:c.644T>C	XP_024306668.1:p.Leu215Ser
XM_024450901.1:c.644T>C	XP_024306669.1:p.Leu215Ser
XM_024450902.1:c.644T>C	XP_024306670.1:p.Leu215Ser
XR_001752597.1:n.2438T>C
XR_001752598.1:n.2438T>C
XR_001752599.1:n.2438T>C
XR_001752600.1:n.2356T>C
NM_005993.5:c.2330T>C MANE Select	NP_005984.3:p.Leu777Ser