Canonical Allele Identifier: CA401633447

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924996-G-T
• MyVariant Identifiers: chr17:g.80882872G>T (hg19) ; chr17:g.82924996G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924996G>T , CM000679.2:g.82924996G>T	GRCh38
NC_000017.10:g.80882872G>T , CM000679.1:g.80882872G>T	GRCh37
NC_000017.9:g.78476161G>T	NCBI36
NG_011721.1:g.177933G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000574886.2:n.1526G>T
ENST00000576677.6:n.1447G>T
ENST00000681983.1:n.2454G>T
ENST00000682099.1:n.1215G>T
ENST00000682213.1:c.*289G>T	ENSP00000508166.1:n.*289G>T
ENST00000682315.1:c.632G>T	ENSP00000507232.1:p.Cys211Phe
ENST00000682479.1:c.2408G>T	ENSP00000508214.1:p.Cys803Phe
ENST00000682610.1:n.1558G>T
ENST00000682654.1:c.*289G>T	ENSP00000507412.1:n.*289G>T
ENST00000682722.1:c.2267G>T	ENSP00000508364.1:p.Cys756Phe
ENST00000683041.1:c.*289G>T	ENSP00000506994.1:n.*289G>T
ENST00000683184.1:c.*1971G>T	ENSP00000507757.1:n.*1971G>T
ENST00000683282.1:c.2234G>T	ENSP00000506913.1:p.Cys745Phe
ENST00000683444.1:c.*1895G>T	ENSP00000507553.1:n.*1895G>T
ENST00000683584.1:n.1141G>T
ENST00000683821.1:c.632G>T	ENSP00000507651.1:p.Cys211Phe
ENST00000683839.1:n.1772G>T
ENST00000684000.1:c.2402G>T	ENSP00000506795.1:p.Cys801Phe
ENST00000684188.1:c.2129G>T	ENSP00000507153.1:p.Cys710Phe
ENST00000684349.1:c.2504G>T	ENSP00000508067.1:p.Cys835Phe
ENST00000684361.1:c.2318G>T	ENSP00000507364.1:p.Cys773Phe
ENST00000684408.1:c.1961G>T	ENSP00000506837.1:p.Cys654Phe
ENST00000684429.1:c.2246G>T	ENSP00000507224.1:p.Cys749Phe
ENST00000684464.1:c.2411G>T	ENSP00000508333.1:p.Cys804Phe
ENST00000684544.1:c.2237G>T	ENSP00000507337.1:p.Cys746Phe
ENST00000684559.1:n.1073G>T
ENST00000684760.1:c.2585G>T	ENSP00000507696.1:p.Cys862Phe
ENST00000684776.1:c.*801G>T	ENSP00000507861.1:n.*801G>T
ENST00000355528.9:c.2318G>T MANE Select	ENSP00000347719.4:p.Cys773Phe
ENST00000355528.8:c.2318G>T	ENSP00000347719.4:p.Cys773Phe
ENST00000539345.6:c.2318G>T	ENSP00000440671.2:p.Cys773Phe
ENST00000571618.5:n.496G>T
ENST00000571796.5:n.976G>T
ENST00000574422.1:c.632G>T	ENSP00000458599.1:p.Cys211Phe
ENST00000574818.5:n.376G>T
ENST00000574886.1:n.702G>T
ENST00000574975.5:c.695G>T	ENSP00000461680.1:p.Cys232Phe
ENST00000576760.5:c.632G>T	ENSP00000460949.1:p.Cys211Phe
NM_005993.4:c.2318G>T	NP_005984.3:p.Cys773Phe
XM_005256396.3:c.2267G>T	XP_005256453.1:p.Cys756Phe
XM_005256399.3:c.1034G>T	XP_005256456.1:p.Cys345Phe
XM_005256400.3:c.632G>T	XP_005256457.1:p.Cys211Phe
XM_005256401.3:c.632G>T	XP_005256458.1:p.Cys211Phe
XM_005256402.3:c.632G>T	XP_005256459.1:p.Cys211Phe
XM_005256403.3:c.632G>T	XP_005256460.1:p.Cys211Phe
XM_005256404.3:c.632G>T	XP_005256461.1:p.Cys211Phe
XM_006722290.2:c.2237G>T	XP_006722353.1:p.Cys746Phe
XM_006722291.2:c.1022G>T	XP_006722354.1:p.Cys341Phe
XM_006722292.2:c.632G>T	XP_006722355.1:p.Cys211Phe
XM_011523589.1:c.1973G>T	XP_011521891.1:p.Cys658Phe
XM_011523590.1:c.1961G>T	XP_011521892.1:p.Cys654Phe
XM_011523591.1:c.1958G>T	XP_011521893.1:p.Cys653Phe
XM_011523592.1:c.1871G>T	XP_011521894.1:p.Cys624Phe
XM_011523593.1:c.1565G>T	XP_011521895.1:p.Cys522Phe
XM_011523594.1:c.1046G>T	XP_011521896.1:p.Cys349Phe
XM_011523595.1:c.1013G>T	XP_011521897.1:p.Cys338Phe
XM_011523596.1:c.*49G>T	XP_011521898.1:n.*49G>T
XM_011523597.1:c.779G>T	XP_011521899.1:p.Cys260Phe
XM_011523598.1:c.776G>T	XP_011521900.1:p.Cys259Phe
XM_011523599.1:c.770G>T	XP_011521901.1:p.Cys257Phe
XM_011523600.1:c.632G>T	XP_011521902.1:p.Cys211Phe
XR_430033.2:n.2426G>T
XM_005256396.4:c.2267G>T	XP_005256453.1:p.Cys756Phe
XM_005256399.5:c.1034G>T	XP_005256456.1:p.Cys345Phe
XM_005256404.4:c.632G>T	XP_005256461.1:p.Cys211Phe
XM_006722291.4:c.1022G>T	XP_006722354.1:p.Cys341Phe
XM_006722292.3:c.632G>T	XP_006722355.1:p.Cys211Phe
XM_011523589.2:c.1973G>T	XP_011521891.1:p.Cys658Phe
XM_011523591.2:c.1958G>T	XP_011521893.1:p.Cys653Phe
XM_011523593.2:c.1565G>T	XP_011521895.1:p.Cys522Phe
XM_011523594.2:c.1046G>T	XP_011521896.1:p.Cys349Phe
XM_011523595.3:c.1013G>T	XP_011521897.1:p.Cys338Phe
XM_011523597.2:c.779G>T	XP_011521899.1:p.Cys260Phe
XM_011523599.2:c.770G>T	XP_011521901.1:p.Cys257Phe
XM_011523600.3:c.632G>T	XP_011521902.1:p.Cys211Phe
XM_017024987.1:c.2129G>T	XP_016880476.1:p.Cys710Phe
XM_017024989.1:c.680G>T	XP_016880478.1:p.Cys227Phe
XM_017024990.2:c.632G>T	XP_016880479.1:p.Cys211Phe
XM_024450899.1:c.632G>T	XP_024306667.1:p.Cys211Phe
XM_024450900.1:c.632G>T	XP_024306668.1:p.Cys211Phe
XM_024450901.1:c.632G>T	XP_024306669.1:p.Cys211Phe
XM_024450902.1:c.632G>T	XP_024306670.1:p.Cys211Phe
XR_001752597.1:n.2426G>T
XR_001752598.1:n.2426G>T
XR_001752599.1:n.2426G>T
XR_001752600.1:n.2344G>T
NM_005993.5:c.2318G>T MANE Select	NP_005984.3:p.Cys773Phe