Canonical Allele Identifier: CA401633273

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882825C>G (hg19) ; chr17:g.82924949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924949C>G , CM000679.2:g.82924949C>G	GRCh38
NC_000017.10:g.80882825C>G , CM000679.1:g.80882825C>G	GRCh37
NC_000017.9:g.78476114C>G	NCBI36
NG_011721.1:g.177886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1479C>G
ENST00000576677.6:n.1400C>G
ENST00000681983.1:n.2407C>G
ENST00000682099.1:n.1168C>G
ENST00000682213.1:c.*242C>G	ENSP00000508166.1:n.*242C>G
ENST00000682315.1:c.585C>G	ENSP00000507232.1:p.Ile195Met
ENST00000682479.1:c.2361C>G	ENSP00000508214.1:p.Ile787Met
ENST00000682610.1:n.1511C>G
ENST00000682654.1:c.*242C>G	ENSP00000507412.1:n.*242C>G
ENST00000682722.1:c.2220C>G	ENSP00000508364.1:p.Ile740Met
ENST00000683041.1:c.*242C>G	ENSP00000506994.1:n.*242C>G
ENST00000683184.1:c.*1924C>G	ENSP00000507757.1:n.*1924C>G
ENST00000683282.1:c.2187C>G	ENSP00000506913.1:p.Ile729Met
ENST00000683444.1:c.*1848C>G	ENSP00000507553.1:n.*1848C>G
ENST00000683584.1:n.1094C>G
ENST00000683821.1:c.585C>G	ENSP00000507651.1:p.Ile195Met
ENST00000683839.1:n.1725C>G
ENST00000684000.1:c.2355C>G	ENSP00000506795.1:p.Ile785Met
ENST00000684188.1:c.2082C>G	ENSP00000507153.1:p.Ile694Met
ENST00000684349.1:c.2457C>G	ENSP00000508067.1:p.Ile819Met
ENST00000684361.1:c.2271C>G	ENSP00000507364.1:p.Ile757Met
ENST00000684408.1:c.1914C>G	ENSP00000506837.1:p.Ile638Met
ENST00000684429.1:c.2199C>G	ENSP00000507224.1:p.Ile733Met
ENST00000684464.1:c.2364C>G	ENSP00000508333.1:p.Ile788Met
ENST00000684544.1:c.2190C>G	ENSP00000507337.1:p.Ile730Met
ENST00000684559.1:n.1026C>G
ENST00000684760.1:c.2538C>G	ENSP00000507696.1:p.Ile846Met
ENST00000684776.1:c.*754C>G	ENSP00000507861.1:n.*754C>G
ENST00000355528.9:c.2271C>G MANE Select	ENSP00000347719.4:p.Ile757Met
ENST00000355528.8:c.2271C>G	ENSP00000347719.4:p.Ile757Met
ENST00000539345.6:c.2271C>G	ENSP00000440671.2:p.Ile757Met
ENST00000571618.5:n.449C>G
ENST00000571796.5:n.929C>G
ENST00000574422.1:c.585C>G	ENSP00000458599.1:p.Ile195Met
ENST00000574818.5:n.329C>G
ENST00000574886.1:n.655C>G
ENST00000574975.5:c.648C>G	ENSP00000461680.1:p.Ile216Met
ENST00000576760.5:c.585C>G	ENSP00000460949.1:p.Ile195Met
NM_005993.4:c.2271C>G	NP_005984.3:p.Ile757Met
XM_005256396.3:c.2220C>G	XP_005256453.1:p.Ile740Met
XM_005256399.3:c.987C>G	XP_005256456.1:p.Ile329Met
XM_005256400.3:c.585C>G	XP_005256457.1:p.Ile195Met
XM_005256401.3:c.585C>G	XP_005256458.1:p.Ile195Met
XM_005256402.3:c.585C>G	XP_005256459.1:p.Ile195Met
XM_005256403.3:c.585C>G	XP_005256460.1:p.Ile195Met
XM_005256404.3:c.585C>G	XP_005256461.1:p.Ile195Met
XM_006722290.2:c.2190C>G	XP_006722353.1:p.Ile730Met
XM_006722291.2:c.975C>G	XP_006722354.1:p.Ile325Met
XM_006722292.2:c.585C>G	XP_006722355.1:p.Ile195Met
XM_011523589.1:c.1926C>G	XP_011521891.1:p.Ile642Met
XM_011523590.1:c.1914C>G	XP_011521892.1:p.Ile638Met
XM_011523591.1:c.1911C>G	XP_011521893.1:p.Ile637Met
XM_011523592.1:c.1824C>G	XP_011521894.1:p.Ile608Met
XM_011523593.1:c.1518C>G	XP_011521895.1:p.Ile506Met
XM_011523594.1:c.999C>G	XP_011521896.1:p.Ile333Met
XM_011523595.1:c.966C>G	XP_011521897.1:p.Ile322Met
XM_011523596.1:c.*2C>G	XP_011521898.1:n.*2C>G
XM_011523597.1:c.732C>G	XP_011521899.1:p.Ile244Met
XM_011523598.1:c.729C>G	XP_011521900.1:p.Ile243Met
XM_011523599.1:c.723C>G	XP_011521901.1:p.Ile241Met
XM_011523600.1:c.585C>G	XP_011521902.1:p.Ile195Met
XR_430033.2:n.2379C>G
XM_005256396.4:c.2220C>G	XP_005256453.1:p.Ile740Met
XM_005256399.5:c.987C>G	XP_005256456.1:p.Ile329Met
XM_005256404.4:c.585C>G	XP_005256461.1:p.Ile195Met
XM_006722291.4:c.975C>G	XP_006722354.1:p.Ile325Met
XM_006722292.3:c.585C>G	XP_006722355.1:p.Ile195Met
XM_011523589.2:c.1926C>G	XP_011521891.1:p.Ile642Met
XM_011523591.2:c.1911C>G	XP_011521893.1:p.Ile637Met
XM_011523593.2:c.1518C>G	XP_011521895.1:p.Ile506Met
XM_011523594.2:c.999C>G	XP_011521896.1:p.Ile333Met
XM_011523595.3:c.966C>G	XP_011521897.1:p.Ile322Met
XM_011523597.2:c.732C>G	XP_011521899.1:p.Ile244Met
XM_011523599.2:c.723C>G	XP_011521901.1:p.Ile241Met
XM_011523600.3:c.585C>G	XP_011521902.1:p.Ile195Met
XM_017024987.1:c.2082C>G	XP_016880476.1:p.Ile694Met
XM_017024989.1:c.633C>G	XP_016880478.1:p.Ile211Met
XM_017024990.2:c.585C>G	XP_016880479.1:p.Ile195Met
XM_024450899.1:c.585C>G	XP_024306667.1:p.Ile195Met
XM_024450900.1:c.585C>G	XP_024306668.1:p.Ile195Met
XM_024450901.1:c.585C>G	XP_024306669.1:p.Ile195Met
XM_024450902.1:c.585C>G	XP_024306670.1:p.Ile195Met
XR_001752597.1:n.2379C>G
XR_001752598.1:n.2379C>G
XR_001752599.1:n.2379C>G
XR_001752600.1:n.2297C>G
NM_005993.5:c.2271C>G MANE Select	NP_005984.3:p.Ile757Met