Canonical Allele Identifier: CA502597483

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925051-C-T
• MyVariant Identifiers: chr17:g.80882927C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925051C>T , CM000679.2:g.82925051C>T	GRCh38
NC_000017.10:g.80882927C>T , CM000679.1:g.80882927C>T	GRCh37
NC_000017.9:g.78476216C>T	NCBI36
NG_011721.1:g.177988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1581C>T
ENST00000576677.6:n.1502C>T
ENST00000681983.1:n.2509C>T
ENST00000682099.1:n.1270C>T
ENST00000682213.1:c.*344C>T	ENSP00000508166.1:n.*344C>T
ENST00000682315.1:c.687C>T	ENSP00000507232.1:p.Leu229=
ENST00000682479.1:c.2463C>T	ENSP00000508214.1:p.Leu821=
ENST00000682610.1:n.1613C>T
ENST00000682654.1:c.*344C>T	ENSP00000507412.1:n.*344C>T
ENST00000682722.1:c.2322C>T	ENSP00000508364.1:p.Leu774=
ENST00000683041.1:c.*344C>T	ENSP00000506994.1:n.*344C>T
ENST00000683184.1:c.*2026C>T	ENSP00000507757.1:n.*2026C>T
ENST00000683282.1:c.2289C>T	ENSP00000506913.1:p.Leu763=
ENST00000683444.1:c.*1950C>T	ENSP00000507553.1:n.*1950C>T
ENST00000683584.1:n.1196C>T
ENST00000683821.1:c.687C>T	ENSP00000507651.1:p.Leu229=
ENST00000683839.1:n.1827C>T
ENST00000684000.1:c.2457C>T	ENSP00000506795.1:p.Leu819=
ENST00000684188.1:c.2184C>T	ENSP00000507153.1:p.Leu728=
ENST00000684349.1:c.2559C>T	ENSP00000508067.1:p.Leu853=
ENST00000684361.1:c.2373C>T	ENSP00000507364.1:p.Leu791=
ENST00000684408.1:c.2016C>T	ENSP00000506837.1:p.Leu672=
ENST00000684429.1:c.2301C>T	ENSP00000507224.1:p.Leu767=
ENST00000684464.1:c.2466C>T	ENSP00000508333.1:p.Leu822=
ENST00000684544.1:c.2292C>T	ENSP00000507337.1:p.Leu764=
ENST00000684559.1:n.1128C>T
ENST00000684760.1:c.2640C>T	ENSP00000507696.1:p.Leu880=
ENST00000684776.1:c.*856C>T	ENSP00000507861.1:n.*856C>T
ENST00000355528.9:c.2373C>T MANE Select	ENSP00000347719.4:p.Leu791=
ENST00000355528.8:c.2373C>T	ENSP00000347719.4:p.Leu791=
ENST00000539345.6:c.2373C>T	ENSP00000440671.2:p.Leu791=
ENST00000571618.5:n.551C>T
ENST00000571796.5:n.1031C>T
ENST00000574422.1:c.687C>T	ENSP00000458599.1:p.Leu229=
ENST00000574818.5:n.431C>T
ENST00000574886.1:n.757C>T
ENST00000574975.5:c.750C>T	ENSP00000461680.1:p.Leu250=
ENST00000576760.5:c.687C>T	ENSP00000460949.1:p.Leu229=
NM_005993.4:c.2373C>T	NP_005984.3:p.Leu791=
XM_005256396.3:c.2322C>T	XP_005256453.1:p.Leu774=
XM_005256399.3:c.1089C>T	XP_005256456.1:p.Leu363=
XM_005256400.3:c.687C>T	XP_005256457.1:p.Leu229=
XM_005256401.3:c.687C>T	XP_005256458.1:p.Leu229=
XM_005256402.3:c.687C>T	XP_005256459.1:p.Leu229=
XM_005256403.3:c.687C>T	XP_005256460.1:p.Leu229=
XM_005256404.3:c.687C>T	XP_005256461.1:p.Leu229=
XM_006722290.2:c.2292C>T	XP_006722353.1:p.Leu764=
XM_006722291.2:c.1077C>T	XP_006722354.1:p.Leu359=
XM_006722292.2:c.687C>T	XP_006722355.1:p.Leu229=
XM_011523589.1:c.2028C>T	XP_011521891.1:p.Leu676=
XM_011523590.1:c.2016C>T	XP_011521892.1:p.Leu672=
XM_011523591.1:c.2013C>T	XP_011521893.1:p.Leu671=
XM_011523592.1:c.1926C>T	XP_011521894.1:p.Leu642=
XM_011523593.1:c.1620C>T	XP_011521895.1:p.Leu540=
XM_011523594.1:c.1101C>T	XP_011521896.1:p.Leu367=
XM_011523595.1:c.1068C>T	XP_011521897.1:p.Leu356=
XM_011523597.1:c.834C>T	XP_011521899.1:p.Leu278=
XM_011523598.1:c.831C>T	XP_011521900.1:p.Leu277=
XM_011523599.1:c.825C>T	XP_011521901.1:p.Leu275=
XM_011523600.1:c.687C>T	XP_011521902.1:p.Leu229=
XR_430033.2:n.2481C>T
XM_005256396.4:c.2322C>T	XP_005256453.1:p.Leu774=
XM_005256399.5:c.1089C>T	XP_005256456.1:p.Leu363=
XM_005256404.4:c.687C>T	XP_005256461.1:p.Leu229=
XM_006722291.4:c.1077C>T	XP_006722354.1:p.Leu359=
XM_006722292.3:c.687C>T	XP_006722355.1:p.Leu229=
XM_011523589.2:c.2028C>T	XP_011521891.1:p.Leu676=
XM_011523591.2:c.2013C>T	XP_011521893.1:p.Leu671=
XM_011523593.2:c.1620C>T	XP_011521895.1:p.Leu540=
XM_011523594.2:c.1101C>T	XP_011521896.1:p.Leu367=
XM_011523595.3:c.1068C>T	XP_011521897.1:p.Leu356=
XM_011523597.2:c.834C>T	XP_011521899.1:p.Leu278=
XM_011523599.2:c.825C>T	XP_011521901.1:p.Leu275=
XM_011523600.3:c.687C>T	XP_011521902.1:p.Leu229=
XM_017024987.1:c.2184C>T	XP_016880476.1:p.Leu728=
XM_017024989.1:c.735C>T	XP_016880478.1:p.Leu245=
XM_017024990.2:c.687C>T	XP_016880479.1:p.Leu229=
XM_024450899.1:c.687C>T	XP_024306667.1:p.Leu229=
XM_024450900.1:c.687C>T	XP_024306668.1:p.Leu229=
XM_024450901.1:c.687C>T	XP_024306669.1:p.Leu229=
XM_024450902.1:c.687C>T	XP_024306670.1:p.Leu229=
XR_001752597.1:n.2481C>T
XR_001752598.1:n.2481C>T
XR_001752599.1:n.2481C>T
XR_001752600.1:n.2399C>T
NM_005993.5:c.2373C>T MANE Select	NP_005984.3:p.Leu791=