Canonical Allele Identifier: CA502597485

Gene: TBCD

Linked Data

• dbSNP Id: rs1195119395
• gnomAD v2: 17-80882927-C-G
• gnomAD v4: 17-82925051-C-G
• MyVariant Identifiers: chr17:g.80882927C>G (hg19) ; chr17:g.82925051C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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