Canonical Allele Identifier: CA401633503

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925009-G-T
• MyVariant Identifiers: chr17:g.80882885G>T (hg19) ; chr17:g.82925009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925009G>T , CM000679.2:g.82925009G>T	GRCh38
NC_000017.10:g.80882885G>T , CM000679.1:g.80882885G>T	GRCh37
NC_000017.9:g.78476174G>T	NCBI36
NG_011721.1:g.177946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1539G>T
ENST00000576677.6:n.1460G>T
ENST00000681983.1:n.2467G>T
ENST00000682099.1:n.1228G>T
ENST00000682213.1:c.*302G>T	ENSP00000508166.1:n.*302G>T
ENST00000682315.1:c.645G>T	ENSP00000507232.1:p.Leu215Phe
ENST00000682479.1:c.2421G>T	ENSP00000508214.1:p.Leu807Phe
ENST00000682610.1:n.1571G>T
ENST00000682654.1:c.*302G>T	ENSP00000507412.1:n.*302G>T
ENST00000682722.1:c.2280G>T	ENSP00000508364.1:p.Leu760Phe
ENST00000683041.1:c.*302G>T	ENSP00000506994.1:n.*302G>T
ENST00000683184.1:c.*1984G>T	ENSP00000507757.1:n.*1984G>T
ENST00000683282.1:c.2247G>T	ENSP00000506913.1:p.Leu749Phe
ENST00000683444.1:c.*1908G>T	ENSP00000507553.1:n.*1908G>T
ENST00000683584.1:n.1154G>T
ENST00000683821.1:c.645G>T	ENSP00000507651.1:p.Leu215Phe
ENST00000683839.1:n.1785G>T
ENST00000684000.1:c.2415G>T	ENSP00000506795.1:p.Leu805Phe
ENST00000684188.1:c.2142G>T	ENSP00000507153.1:p.Leu714Phe
ENST00000684349.1:c.2517G>T	ENSP00000508067.1:p.Leu839Phe
ENST00000684361.1:c.2331G>T	ENSP00000507364.1:p.Leu777Phe
ENST00000684408.1:c.1974G>T	ENSP00000506837.1:p.Leu658Phe
ENST00000684429.1:c.2259G>T	ENSP00000507224.1:p.Leu753Phe
ENST00000684464.1:c.2424G>T	ENSP00000508333.1:p.Leu808Phe
ENST00000684544.1:c.2250G>T	ENSP00000507337.1:p.Leu750Phe
ENST00000684559.1:n.1086G>T
ENST00000684760.1:c.2598G>T	ENSP00000507696.1:p.Leu866Phe
ENST00000684776.1:c.*814G>T	ENSP00000507861.1:n.*814G>T
ENST00000355528.9:c.2331G>T MANE Select	ENSP00000347719.4:p.Leu777Phe
ENST00000355528.8:c.2331G>T	ENSP00000347719.4:p.Leu777Phe
ENST00000539345.6:c.2331G>T	ENSP00000440671.2:p.Leu777Phe
ENST00000571618.5:n.509G>T
ENST00000571796.5:n.989G>T
ENST00000574422.1:c.645G>T	ENSP00000458599.1:p.Leu215Phe
ENST00000574818.5:n.389G>T
ENST00000574886.1:n.715G>T
ENST00000574975.5:c.708G>T	ENSP00000461680.1:p.Leu236Phe
ENST00000576760.5:c.645G>T	ENSP00000460949.1:p.Leu215Phe
NM_005993.4:c.2331G>T	NP_005984.3:p.Leu777Phe
XM_005256396.3:c.2280G>T	XP_005256453.1:p.Leu760Phe
XM_005256399.3:c.1047G>T	XP_005256456.1:p.Leu349Phe
XM_005256400.3:c.645G>T	XP_005256457.1:p.Leu215Phe
XM_005256401.3:c.645G>T	XP_005256458.1:p.Leu215Phe
XM_005256402.3:c.645G>T	XP_005256459.1:p.Leu215Phe
XM_005256403.3:c.645G>T	XP_005256460.1:p.Leu215Phe
XM_005256404.3:c.645G>T	XP_005256461.1:p.Leu215Phe
XM_006722290.2:c.2250G>T	XP_006722353.1:p.Leu750Phe
XM_006722291.2:c.1035G>T	XP_006722354.1:p.Leu345Phe
XM_006722292.2:c.645G>T	XP_006722355.1:p.Leu215Phe
XM_011523589.1:c.1986G>T	XP_011521891.1:p.Leu662Phe
XM_011523590.1:c.1974G>T	XP_011521892.1:p.Leu658Phe
XM_011523591.1:c.1971G>T	XP_011521893.1:p.Leu657Phe
XM_011523592.1:c.1884G>T	XP_011521894.1:p.Leu628Phe
XM_011523593.1:c.1578G>T	XP_011521895.1:p.Leu526Phe
XM_011523594.1:c.1059G>T	XP_011521896.1:p.Leu353Phe
XM_011523595.1:c.1026G>T	XP_011521897.1:p.Leu342Phe
XM_011523596.1:c.*62G>T	XP_011521898.1:n.*62G>T
XM_011523597.1:c.792G>T	XP_011521899.1:p.Leu264Phe
XM_011523598.1:c.789G>T	XP_011521900.1:p.Leu263Phe
XM_011523599.1:c.783G>T	XP_011521901.1:p.Leu261Phe
XM_011523600.1:c.645G>T	XP_011521902.1:p.Leu215Phe
XR_430033.2:n.2439G>T
XM_005256396.4:c.2280G>T	XP_005256453.1:p.Leu760Phe
XM_005256399.5:c.1047G>T	XP_005256456.1:p.Leu349Phe
XM_005256404.4:c.645G>T	XP_005256461.1:p.Leu215Phe
XM_006722291.4:c.1035G>T	XP_006722354.1:p.Leu345Phe
XM_006722292.3:c.645G>T	XP_006722355.1:p.Leu215Phe
XM_011523589.2:c.1986G>T	XP_011521891.1:p.Leu662Phe
XM_011523591.2:c.1971G>T	XP_011521893.1:p.Leu657Phe
XM_011523593.2:c.1578G>T	XP_011521895.1:p.Leu526Phe
XM_011523594.2:c.1059G>T	XP_011521896.1:p.Leu353Phe
XM_011523595.3:c.1026G>T	XP_011521897.1:p.Leu342Phe
XM_011523597.2:c.792G>T	XP_011521899.1:p.Leu264Phe
XM_011523599.2:c.783G>T	XP_011521901.1:p.Leu261Phe
XM_011523600.3:c.645G>T	XP_011521902.1:p.Leu215Phe
XM_017024987.1:c.2142G>T	XP_016880476.1:p.Leu714Phe
XM_017024989.1:c.693G>T	XP_016880478.1:p.Leu231Phe
XM_017024990.2:c.645G>T	XP_016880479.1:p.Leu215Phe
XM_024450899.1:c.645G>T	XP_024306667.1:p.Leu215Phe
XM_024450900.1:c.645G>T	XP_024306668.1:p.Leu215Phe
XM_024450901.1:c.645G>T	XP_024306669.1:p.Leu215Phe
XM_024450902.1:c.645G>T	XP_024306670.1:p.Leu215Phe
XR_001752597.1:n.2439G>T
XR_001752598.1:n.2439G>T
XR_001752599.1:n.2439G>T
XR_001752600.1:n.2357G>T
NM_005993.5:c.2331G>T MANE Select	NP_005984.3:p.Leu777Phe