Canonical Allele Identifier: CA401633618

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882913C>G (hg19) ; chr17:g.82925037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925037C>G , CM000679.2:g.82925037C>G	GRCh38
NC_000017.10:g.80882913C>G , CM000679.1:g.80882913C>G	GRCh37
NC_000017.9:g.78476202C>G	NCBI36
NG_011721.1:g.177974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1567C>G
ENST00000576677.6:n.1488C>G
ENST00000681983.1:n.2495C>G
ENST00000682099.1:n.1256C>G
ENST00000682213.1:c.*330C>G	ENSP00000508166.1:n.*330C>G
ENST00000682315.1:c.673C>G	ENSP00000507232.1:p.Leu225Val
ENST00000682479.1:c.2449C>G	ENSP00000508214.1:p.Leu817Val
ENST00000682610.1:n.1599C>G
ENST00000682654.1:c.*330C>G	ENSP00000507412.1:n.*330C>G
ENST00000682722.1:c.2308C>G	ENSP00000508364.1:p.Leu770Val
ENST00000683041.1:c.*330C>G	ENSP00000506994.1:n.*330C>G
ENST00000683184.1:c.*2012C>G	ENSP00000507757.1:n.*2012C>G
ENST00000683282.1:c.2275C>G	ENSP00000506913.1:p.Leu759Val
ENST00000683444.1:c.*1936C>G	ENSP00000507553.1:n.*1936C>G
ENST00000683584.1:n.1182C>G
ENST00000683821.1:c.673C>G	ENSP00000507651.1:p.Leu225Val
ENST00000683839.1:n.1813C>G
ENST00000684000.1:c.2443C>G	ENSP00000506795.1:p.Leu815Val
ENST00000684188.1:c.2170C>G	ENSP00000507153.1:p.Leu724Val
ENST00000684349.1:c.2545C>G	ENSP00000508067.1:p.Leu849Val
ENST00000684361.1:c.2359C>G	ENSP00000507364.1:p.Leu787Val
ENST00000684408.1:c.2002C>G	ENSP00000506837.1:p.Leu668Val
ENST00000684429.1:c.2287C>G	ENSP00000507224.1:p.Leu763Val
ENST00000684464.1:c.2452C>G	ENSP00000508333.1:p.Leu818Val
ENST00000684544.1:c.2278C>G	ENSP00000507337.1:p.Leu760Val
ENST00000684559.1:n.1114C>G
ENST00000684760.1:c.2626C>G	ENSP00000507696.1:p.Leu876Val
ENST00000684776.1:c.*842C>G	ENSP00000507861.1:n.*842C>G
ENST00000355528.9:c.2359C>G MANE Select	ENSP00000347719.4:p.Leu787Val
ENST00000355528.8:c.2359C>G	ENSP00000347719.4:p.Leu787Val
ENST00000539345.6:c.2359C>G	ENSP00000440671.2:p.Leu787Val
ENST00000571618.5:n.537C>G
ENST00000571796.5:n.1017C>G
ENST00000574422.1:c.673C>G	ENSP00000458599.1:p.Leu225Val
ENST00000574818.5:n.417C>G
ENST00000574886.1:n.743C>G
ENST00000574975.5:c.736C>G	ENSP00000461680.1:p.Leu246Val
ENST00000576760.5:c.673C>G	ENSP00000460949.1:p.Leu225Val
NM_005993.4:c.2359C>G	NP_005984.3:p.Leu787Val
XM_005256396.3:c.2308C>G	XP_005256453.1:p.Leu770Val
XM_005256399.3:c.1075C>G	XP_005256456.1:p.Leu359Val
XM_005256400.3:c.673C>G	XP_005256457.1:p.Leu225Val
XM_005256401.3:c.673C>G	XP_005256458.1:p.Leu225Val
XM_005256402.3:c.673C>G	XP_005256459.1:p.Leu225Val
XM_005256403.3:c.673C>G	XP_005256460.1:p.Leu225Val
XM_005256404.3:c.673C>G	XP_005256461.1:p.Leu225Val
XM_006722290.2:c.2278C>G	XP_006722353.1:p.Leu760Val
XM_006722291.2:c.1063C>G	XP_006722354.1:p.Leu355Val
XM_006722292.2:c.673C>G	XP_006722355.1:p.Leu225Val
XM_011523589.1:c.2014C>G	XP_011521891.1:p.Leu672Val
XM_011523590.1:c.2002C>G	XP_011521892.1:p.Leu668Val
XM_011523591.1:c.1999C>G	XP_011521893.1:p.Leu667Val
XM_011523592.1:c.1912C>G	XP_011521894.1:p.Leu638Val
XM_011523593.1:c.1606C>G	XP_011521895.1:p.Leu536Val
XM_011523594.1:c.1087C>G	XP_011521896.1:p.Leu363Val
XM_011523595.1:c.1054C>G	XP_011521897.1:p.Leu352Val
XM_011523597.1:c.820C>G	XP_011521899.1:p.Leu274Val
XM_011523598.1:c.817C>G	XP_011521900.1:p.Leu273Val
XM_011523599.1:c.811C>G	XP_011521901.1:p.Leu271Val
XM_011523600.1:c.673C>G	XP_011521902.1:p.Leu225Val
XR_430033.2:n.2467C>G
XM_005256396.4:c.2308C>G	XP_005256453.1:p.Leu770Val
XM_005256399.5:c.1075C>G	XP_005256456.1:p.Leu359Val
XM_005256404.4:c.673C>G	XP_005256461.1:p.Leu225Val
XM_006722291.4:c.1063C>G	XP_006722354.1:p.Leu355Val
XM_006722292.3:c.673C>G	XP_006722355.1:p.Leu225Val
XM_011523589.2:c.2014C>G	XP_011521891.1:p.Leu672Val
XM_011523591.2:c.1999C>G	XP_011521893.1:p.Leu667Val
XM_011523593.2:c.1606C>G	XP_011521895.1:p.Leu536Val
XM_011523594.2:c.1087C>G	XP_011521896.1:p.Leu363Val
XM_011523595.3:c.1054C>G	XP_011521897.1:p.Leu352Val
XM_011523597.2:c.820C>G	XP_011521899.1:p.Leu274Val
XM_011523599.2:c.811C>G	XP_011521901.1:p.Leu271Val
XM_011523600.3:c.673C>G	XP_011521902.1:p.Leu225Val
XM_017024987.1:c.2170C>G	XP_016880476.1:p.Leu724Val
XM_017024989.1:c.721C>G	XP_016880478.1:p.Leu241Val
XM_017024990.2:c.673C>G	XP_016880479.1:p.Leu225Val
XM_024450899.1:c.673C>G	XP_024306667.1:p.Leu225Val
XM_024450900.1:c.673C>G	XP_024306668.1:p.Leu225Val
XM_024450901.1:c.673C>G	XP_024306669.1:p.Leu225Val
XM_024450902.1:c.673C>G	XP_024306670.1:p.Leu225Val
XR_001752597.1:n.2467C>G
XR_001752598.1:n.2467C>G
XR_001752599.1:n.2467C>G
XR_001752600.1:n.2385C>G
NM_005993.5:c.2359C>G MANE Select	NP_005984.3:p.Leu787Val