Canonical Allele Identifier: CA401633558

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925022-C-T
• MyVariant Identifiers: chr17:g.80882898C>T (hg19) ; chr17:g.82925022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925022C>T , CM000679.2:g.82925022C>T	GRCh38
NC_000017.10:g.80882898C>T , CM000679.1:g.80882898C>T	GRCh37
NC_000017.9:g.78476187C>T	NCBI36
NG_011721.1:g.177959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1552C>T
ENST00000576677.6:n.1473C>T
ENST00000681983.1:n.2480C>T
ENST00000682099.1:n.1241C>T
ENST00000682213.1:c.*315C>T	ENSP00000508166.1:n.*315C>T
ENST00000682315.1:c.658C>T	ENSP00000507232.1:p.Leu220Phe
ENST00000682479.1:c.2434C>T	ENSP00000508214.1:p.Leu812Phe
ENST00000682610.1:n.1584C>T
ENST00000682654.1:c.*315C>T	ENSP00000507412.1:n.*315C>T
ENST00000682722.1:c.2293C>T	ENSP00000508364.1:p.Leu765Phe
ENST00000683041.1:c.*315C>T	ENSP00000506994.1:n.*315C>T
ENST00000683184.1:c.*1997C>T	ENSP00000507757.1:n.*1997C>T
ENST00000683282.1:c.2260C>T	ENSP00000506913.1:p.Leu754Phe
ENST00000683444.1:c.*1921C>T	ENSP00000507553.1:n.*1921C>T
ENST00000683584.1:n.1167C>T
ENST00000683821.1:c.658C>T	ENSP00000507651.1:p.Leu220Phe
ENST00000683839.1:n.1798C>T
ENST00000684000.1:c.2428C>T	ENSP00000506795.1:p.Leu810Phe
ENST00000684188.1:c.2155C>T	ENSP00000507153.1:p.Leu719Phe
ENST00000684349.1:c.2530C>T	ENSP00000508067.1:p.Leu844Phe
ENST00000684361.1:c.2344C>T	ENSP00000507364.1:p.Leu782Phe
ENST00000684408.1:c.1987C>T	ENSP00000506837.1:p.Leu663Phe
ENST00000684429.1:c.2272C>T	ENSP00000507224.1:p.Leu758Phe
ENST00000684464.1:c.2437C>T	ENSP00000508333.1:p.Leu813Phe
ENST00000684544.1:c.2263C>T	ENSP00000507337.1:p.Leu755Phe
ENST00000684559.1:n.1099C>T
ENST00000684760.1:c.2611C>T	ENSP00000507696.1:p.Leu871Phe
ENST00000684776.1:c.*827C>T	ENSP00000507861.1:n.*827C>T
ENST00000355528.9:c.2344C>T MANE Select	ENSP00000347719.4:p.Leu782Phe
ENST00000355528.8:c.2344C>T	ENSP00000347719.4:p.Leu782Phe
ENST00000539345.6:c.2344C>T	ENSP00000440671.2:p.Leu782Phe
ENST00000571618.5:n.522C>T
ENST00000571796.5:n.1002C>T
ENST00000574422.1:c.658C>T	ENSP00000458599.1:p.Leu220Phe
ENST00000574818.5:n.402C>T
ENST00000574886.1:n.728C>T
ENST00000574975.5:c.721C>T	ENSP00000461680.1:p.Leu241Phe
ENST00000576760.5:c.658C>T	ENSP00000460949.1:p.Leu220Phe
NM_005993.4:c.2344C>T	NP_005984.3:p.Leu782Phe
XM_005256396.3:c.2293C>T	XP_005256453.1:p.Leu765Phe
XM_005256399.3:c.1060C>T	XP_005256456.1:p.Leu354Phe
XM_005256400.3:c.658C>T	XP_005256457.1:p.Leu220Phe
XM_005256401.3:c.658C>T	XP_005256458.1:p.Leu220Phe
XM_005256402.3:c.658C>T	XP_005256459.1:p.Leu220Phe
XM_005256403.3:c.658C>T	XP_005256460.1:p.Leu220Phe
XM_005256404.3:c.658C>T	XP_005256461.1:p.Leu220Phe
XM_006722290.2:c.2263C>T	XP_006722353.1:p.Leu755Phe
XM_006722291.2:c.1048C>T	XP_006722354.1:p.Leu350Phe
XM_006722292.2:c.658C>T	XP_006722355.1:p.Leu220Phe
XM_011523589.1:c.1999C>T	XP_011521891.1:p.Leu667Phe
XM_011523590.1:c.1987C>T	XP_011521892.1:p.Leu663Phe
XM_011523591.1:c.1984C>T	XP_011521893.1:p.Leu662Phe
XM_011523592.1:c.1897C>T	XP_011521894.1:p.Leu633Phe
XM_011523593.1:c.1591C>T	XP_011521895.1:p.Leu531Phe
XM_011523594.1:c.1072C>T	XP_011521896.1:p.Leu358Phe
XM_011523595.1:c.1039C>T	XP_011521897.1:p.Leu347Phe
XM_011523596.1:c.*75C>T	XP_011521898.1:n.*75C>T
XM_011523597.1:c.805C>T	XP_011521899.1:p.Leu269Phe
XM_011523598.1:c.802C>T	XP_011521900.1:p.Leu268Phe
XM_011523599.1:c.796C>T	XP_011521901.1:p.Leu266Phe
XM_011523600.1:c.658C>T	XP_011521902.1:p.Leu220Phe
XR_430033.2:n.2452C>T
XM_005256396.4:c.2293C>T	XP_005256453.1:p.Leu765Phe
XM_005256399.5:c.1060C>T	XP_005256456.1:p.Leu354Phe
XM_005256404.4:c.658C>T	XP_005256461.1:p.Leu220Phe
XM_006722291.4:c.1048C>T	XP_006722354.1:p.Leu350Phe
XM_006722292.3:c.658C>T	XP_006722355.1:p.Leu220Phe
XM_011523589.2:c.1999C>T	XP_011521891.1:p.Leu667Phe
XM_011523591.2:c.1984C>T	XP_011521893.1:p.Leu662Phe
XM_011523593.2:c.1591C>T	XP_011521895.1:p.Leu531Phe
XM_011523594.2:c.1072C>T	XP_011521896.1:p.Leu358Phe
XM_011523595.3:c.1039C>T	XP_011521897.1:p.Leu347Phe
XM_011523597.2:c.805C>T	XP_011521899.1:p.Leu269Phe
XM_011523599.2:c.796C>T	XP_011521901.1:p.Leu266Phe
XM_011523600.3:c.658C>T	XP_011521902.1:p.Leu220Phe
XM_017024987.1:c.2155C>T	XP_016880476.1:p.Leu719Phe
XM_017024989.1:c.706C>T	XP_016880478.1:p.Leu236Phe
XM_017024990.2:c.658C>T	XP_016880479.1:p.Leu220Phe
XM_024450899.1:c.658C>T	XP_024306667.1:p.Leu220Phe
XM_024450900.1:c.658C>T	XP_024306668.1:p.Leu220Phe
XM_024450901.1:c.658C>T	XP_024306669.1:p.Leu220Phe
XM_024450902.1:c.658C>T	XP_024306670.1:p.Leu220Phe
XR_001752597.1:n.2452C>T
XR_001752598.1:n.2452C>T
XR_001752599.1:n.2452C>T
XR_001752600.1:n.2370C>T
NM_005993.5:c.2344C>T MANE Select	NP_005984.3:p.Leu782Phe