Canonical Allele Identifier: CA401633695

Gene: TBCD

Linked Data

• MyVariant Identifiers: chr17:g.80882933G>C (hg19) ; chr17:g.82925057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925057G>C , CM000679.2:g.82925057G>C	GRCh38
NC_000017.10:g.80882933G>C , CM000679.1:g.80882933G>C	GRCh37
NC_000017.9:g.78476222G>C	NCBI36
NG_011721.1:g.177994G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1587G>C
ENST00000576677.6:n.1508G>C
ENST00000681983.1:n.2515G>C
ENST00000682099.1:n.1276G>C
ENST00000682213.1:c.*350G>C	ENSP00000508166.1:n.*350G>C
ENST00000682315.1:c.693G>C	ENSP00000507232.1:p.Gln231His
ENST00000682479.1:c.2469G>C	ENSP00000508214.1:p.Gln823His
ENST00000682610.1:n.1619G>C
ENST00000682654.1:c.*350G>C	ENSP00000507412.1:n.*350G>C
ENST00000682722.1:c.2328G>C	ENSP00000508364.1:p.Gln776His
ENST00000683041.1:c.*350G>C	ENSP00000506994.1:n.*350G>C
ENST00000683184.1:c.*2032G>C	ENSP00000507757.1:n.*2032G>C
ENST00000683282.1:c.2295G>C	ENSP00000506913.1:p.Gln765His
ENST00000683444.1:c.*1956G>C	ENSP00000507553.1:n.*1956G>C
ENST00000683584.1:n.1202G>C
ENST00000683821.1:c.693G>C	ENSP00000507651.1:p.Gln231His
ENST00000683839.1:n.1833G>C
ENST00000684000.1:c.2463G>C	ENSP00000506795.1:p.Gln821His
ENST00000684188.1:c.2190G>C	ENSP00000507153.1:p.Gln730His
ENST00000684349.1:c.2565G>C	ENSP00000508067.1:p.Gln855His
ENST00000684361.1:c.2379G>C	ENSP00000507364.1:p.Gln793His
ENST00000684408.1:c.2022G>C	ENSP00000506837.1:p.Gln674His
ENST00000684429.1:c.2307G>C	ENSP00000507224.1:p.Gln769His
ENST00000684464.1:c.2472G>C	ENSP00000508333.1:p.Gln824His
ENST00000684544.1:c.2298G>C	ENSP00000507337.1:p.Gln766His
ENST00000684559.1:n.1134G>C
ENST00000684760.1:c.2646G>C	ENSP00000507696.1:p.Gln882His
ENST00000684776.1:c.*862G>C	ENSP00000507861.1:n.*862G>C
ENST00000355528.9:c.2379G>C MANE Select	ENSP00000347719.4:p.Gln793His
ENST00000355528.8:c.2379G>C	ENSP00000347719.4:p.Gln793His
ENST00000539345.6:c.2379G>C	ENSP00000440671.2:p.Gln793His
ENST00000571618.5:n.557G>C
ENST00000571796.5:n.1037G>C
ENST00000574422.1:c.693G>C	ENSP00000458599.1:p.Gln231His
ENST00000574818.5:n.437G>C
ENST00000574886.1:n.763G>C
ENST00000576760.5:c.693G>C	ENSP00000460949.1:p.Gln231His
NM_005993.4:c.2379G>C	NP_005984.3:p.Gln793His
XM_005256396.3:c.2328G>C	XP_005256453.1:p.Gln776His
XM_005256399.3:c.1095G>C	XP_005256456.1:p.Gln365His
XM_005256400.3:c.693G>C	XP_005256457.1:p.Gln231His
XM_005256401.3:c.693G>C	XP_005256458.1:p.Gln231His
XM_005256402.3:c.693G>C	XP_005256459.1:p.Gln231His
XM_005256403.3:c.693G>C	XP_005256460.1:p.Gln231His
XM_005256404.3:c.693G>C	XP_005256461.1:p.Gln231His
XM_006722290.2:c.2298G>C	XP_006722353.1:p.Gln766His
XM_006722291.2:c.1083G>C	XP_006722354.1:p.Gln361His
XM_006722292.2:c.693G>C	XP_006722355.1:p.Gln231His
XM_011523589.1:c.2034G>C	XP_011521891.1:p.Gln678His
XM_011523590.1:c.2022G>C	XP_011521892.1:p.Gln674His
XM_011523591.1:c.2019G>C	XP_011521893.1:p.Gln673His
XM_011523592.1:c.1932G>C	XP_011521894.1:p.Gln644His
XM_011523593.1:c.1626G>C	XP_011521895.1:p.Gln542His
XM_011523594.1:c.1107G>C	XP_011521896.1:p.Gln369His
XM_011523595.1:c.1074G>C	XP_011521897.1:p.Gln358His
XM_011523597.1:c.840G>C	XP_011521899.1:p.Gln280His
XM_011523598.1:c.837G>C	XP_011521900.1:p.Gln279His
XM_011523599.1:c.831G>C	XP_011521901.1:p.Gln277His
XM_011523600.1:c.693G>C	XP_011521902.1:p.Gln231His
XR_430033.2:n.2487G>C
XM_005256396.4:c.2328G>C	XP_005256453.1:p.Gln776His
XM_005256399.5:c.1095G>C	XP_005256456.1:p.Gln365His
XM_005256404.4:c.693G>C	XP_005256461.1:p.Gln231His
XM_006722291.4:c.1083G>C	XP_006722354.1:p.Gln361His
XM_006722292.3:c.693G>C	XP_006722355.1:p.Gln231His
XM_011523589.2:c.2034G>C	XP_011521891.1:p.Gln678His
XM_011523591.2:c.2019G>C	XP_011521893.1:p.Gln673His
XM_011523593.2:c.1626G>C	XP_011521895.1:p.Gln542His
XM_011523594.2:c.1107G>C	XP_011521896.1:p.Gln369His
XM_011523595.3:c.1074G>C	XP_011521897.1:p.Gln358His
XM_011523597.2:c.840G>C	XP_011521899.1:p.Gln280His
XM_011523599.2:c.831G>C	XP_011521901.1:p.Gln277His
XM_011523600.3:c.693G>C	XP_011521902.1:p.Gln231His
XM_017024987.1:c.2190G>C	XP_016880476.1:p.Gln730His
XM_017024989.1:c.741G>C	XP_016880478.1:p.Gln247His
XM_017024990.2:c.693G>C	XP_016880479.1:p.Gln231His
XM_024450899.1:c.693G>C	XP_024306667.1:p.Gln231His
XM_024450900.1:c.693G>C	XP_024306668.1:p.Gln231His
XM_024450901.1:c.693G>C	XP_024306669.1:p.Gln231His
XM_024450902.1:c.693G>C	XP_024306670.1:p.Gln231His
XR_001752597.1:n.2487G>C
XR_001752598.1:n.2487G>C
XR_001752599.1:n.2487G>C
XR_001752600.1:n.2405G>C
NM_005993.5:c.2379G>C MANE Select	NP_005984.3:p.Gln793His