Canonical Allele Identifier: CA8861967

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82814860C>T , CM000679.2:g.82814860C>T	GRCh38
NC_000017.10:g.80772736C>T , CM000679.1:g.80772736C>T	GRCh37
NC_000017.9:g.78366025C>T	NCBI36
NG_011721.1:g.67797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681983.1:n.1380C>T
ENST00000682107.1:n.1364C>T
ENST00000682213.1:c.1244C>T	ENSP00000508166.1:p.Ala415Val
ENST00000682479.1:c.1334C>T	ENSP00000508214.1:p.Ala445Val
ENST00000682610.1:n.484C>T
ENST00000682722.1:c.1193C>T	ENSP00000508364.1:p.Ala398Val
ENST00000682921.1:n.1166C>T
ENST00000683009.1:n.1364C>T
ENST00000683041.1:c.1244C>T	ENSP00000506994.1:p.Ala415Val
ENST00000683184.1:c.*897C>T	ENSP00000507757.1:n.*897C>T
ENST00000683282.1:c.1244C>T	ENSP00000506913.1:p.Ala415Val
ENST00000683444.1:c.*821C>T	ENSP00000507553.1:n.*821C>T
ENST00000684000.1:c.1328C>T	ENSP00000506795.1:p.Ala443Val
ENST00000684188.1:c.1055C>T	ENSP00000507153.1:p.Ala352Val
ENST00000684349.1:c.1244C>T	ENSP00000508067.1:p.Ala415Val
ENST00000684361.1:c.1244C>T	ENSP00000507364.1:p.Ala415Val
ENST00000684408.1:c.1244C>T	ENSP00000506837.1:p.Ala415Val
ENST00000684429.1:c.1172C>T	ENSP00000507224.1:p.Ala391Val
ENST00000684464.1:c.1244C>T	ENSP00000508333.1:p.Ala415Val
ENST00000684544.1:c.1244C>T	ENSP00000507337.1:p.Ala415Val
ENST00000684760.1:c.1244C>T	ENSP00000507696.1:p.Ala415Val
ENST00000684776.1:c.1223+5078C>T	ENSP00000507861.1:n.1223+5078C>T
ENST00000355528.9:c.1244C>T MANE Select	ENSP00000347719.4:p.Ala415Val
ENST00000355528.8:c.1244C>T	ENSP00000347719.4:p.Ala415Val
ENST00000539345.6:c.1244C>T	ENSP00000440671.2:p.Ala415Val
NM_005993.4:c.1244C>T	NP_005984.3:p.Ala415Val
XM_005256396.3:c.1193C>T	XP_005256453.1:p.Ala398Val
XM_006722290.2:c.1244C>T	XP_006722353.1:p.Ala415Val
XM_011523589.1:c.899C>T	XP_011521891.1:p.Ala300Val
XM_011523590.1:c.1244C>T	XP_011521892.1:p.Ala415Val
XM_011523591.1:c.884C>T	XP_011521893.1:p.Ala295Val
XM_011523592.1:c.797C>T	XP_011521894.1:p.Ala266Val
XM_011523593.1:c.491C>T	XP_011521895.1:p.Ala164Val
XM_011523596.1:c.1244C>T	XP_011521898.1:p.Ala415Val
XR_430033.2:n.1352C>T
XM_005256396.4:c.1193C>T	XP_005256453.1:p.Ala398Val
XM_011523589.2:c.899C>T	XP_011521891.1:p.Ala300Val
XM_011523591.2:c.884C>T	XP_011521893.1:p.Ala295Val
XM_011523593.2:c.491C>T	XP_011521895.1:p.Ala164Val
XM_017024987.1:c.1055C>T	XP_016880476.1:p.Ala352Val
XM_017024988.1:c.1244C>T	XP_016880477.1:p.Ala415Val
XR_001752597.1:n.1352C>T
XR_001752598.1:n.1352C>T
XR_001752599.1:n.1352C>T
XR_001752600.1:n.1352C>T
NM_005993.5:c.1244C>T MANE Select	NP_005984.3:p.Ala415Val