Canonical Allele Identifier: CA401633303

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924965-G-A
• MyVariant Identifiers: chr17:g.80882841G>A (hg19) ; chr17:g.82924965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924965G>A , CM000679.2:g.82924965G>A	GRCh38
NC_000017.10:g.80882841G>A , CM000679.1:g.80882841G>A	GRCh37
NC_000017.9:g.78476130G>A	NCBI36
NG_011721.1:g.177902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1495G>A
ENST00000576677.6:n.1416G>A
ENST00000681983.1:n.2423G>A
ENST00000682099.1:n.1184G>A
ENST00000682213.1:c.*258G>A	ENSP00000508166.1:n.*258G>A
ENST00000682315.1:c.601G>A	ENSP00000507232.1:p.Glu201Lys
ENST00000682479.1:c.2377G>A	ENSP00000508214.1:p.Glu793Lys
ENST00000682610.1:n.1527G>A
ENST00000682654.1:c.*258G>A	ENSP00000507412.1:n.*258G>A
ENST00000682722.1:c.2236G>A	ENSP00000508364.1:p.Glu746Lys
ENST00000683041.1:c.*258G>A	ENSP00000506994.1:n.*258G>A
ENST00000683184.1:c.*1940G>A	ENSP00000507757.1:n.*1940G>A
ENST00000683282.1:c.2203G>A	ENSP00000506913.1:p.Glu735Lys
ENST00000683444.1:c.*1864G>A	ENSP00000507553.1:n.*1864G>A
ENST00000683584.1:n.1110G>A
ENST00000683821.1:c.601G>A	ENSP00000507651.1:p.Glu201Lys
ENST00000683839.1:n.1741G>A
ENST00000684000.1:c.2371G>A	ENSP00000506795.1:p.Glu791Lys
ENST00000684188.1:c.2098G>A	ENSP00000507153.1:p.Glu700Lys
ENST00000684349.1:c.2473G>A	ENSP00000508067.1:p.Glu825Lys
ENST00000684361.1:c.2287G>A	ENSP00000507364.1:p.Glu763Lys
ENST00000684408.1:c.1930G>A	ENSP00000506837.1:p.Glu644Lys
ENST00000684429.1:c.2215G>A	ENSP00000507224.1:p.Glu739Lys
ENST00000684464.1:c.2380G>A	ENSP00000508333.1:p.Glu794Lys
ENST00000684544.1:c.2206G>A	ENSP00000507337.1:p.Glu736Lys
ENST00000684559.1:n.1042G>A
ENST00000684760.1:c.2554G>A	ENSP00000507696.1:p.Glu852Lys
ENST00000684776.1:c.*770G>A	ENSP00000507861.1:n.*770G>A
ENST00000355528.9:c.2287G>A MANE Select	ENSP00000347719.4:p.Glu763Lys
ENST00000355528.8:c.2287G>A	ENSP00000347719.4:p.Glu763Lys
ENST00000539345.6:c.2287G>A	ENSP00000440671.2:p.Glu763Lys
ENST00000571618.5:n.465G>A
ENST00000571796.5:n.945G>A
ENST00000574422.1:c.601G>A	ENSP00000458599.1:p.Glu201Lys
ENST00000574818.5:n.345G>A
ENST00000574886.1:n.671G>A
ENST00000574975.5:c.664G>A	ENSP00000461680.1:p.Glu222Lys
ENST00000576760.5:c.601G>A	ENSP00000460949.1:p.Glu201Lys
NM_005993.4:c.2287G>A	NP_005984.3:p.Glu763Lys
XM_005256396.3:c.2236G>A	XP_005256453.1:p.Glu746Lys
XM_005256399.3:c.1003G>A	XP_005256456.1:p.Glu335Lys
XM_005256400.3:c.601G>A	XP_005256457.1:p.Glu201Lys
XM_005256401.3:c.601G>A	XP_005256458.1:p.Glu201Lys
XM_005256402.3:c.601G>A	XP_005256459.1:p.Glu201Lys
XM_005256403.3:c.601G>A	XP_005256460.1:p.Glu201Lys
XM_005256404.3:c.601G>A	XP_005256461.1:p.Glu201Lys
XM_006722290.2:c.2206G>A	XP_006722353.1:p.Glu736Lys
XM_006722291.2:c.991G>A	XP_006722354.1:p.Glu331Lys
XM_006722292.2:c.601G>A	XP_006722355.1:p.Glu201Lys
XM_011523589.1:c.1942G>A	XP_011521891.1:p.Glu648Lys
XM_011523590.1:c.1930G>A	XP_011521892.1:p.Glu644Lys
XM_011523591.1:c.1927G>A	XP_011521893.1:p.Glu643Lys
XM_011523592.1:c.1840G>A	XP_011521894.1:p.Glu614Lys
XM_011523593.1:c.1534G>A	XP_011521895.1:p.Glu512Lys
XM_011523594.1:c.1015G>A	XP_011521896.1:p.Glu339Lys
XM_011523595.1:c.982G>A	XP_011521897.1:p.Glu328Lys
XM_011523596.1:c.*18G>A	XP_011521898.1:n.*18G>A
XM_011523597.1:c.748G>A	XP_011521899.1:p.Glu250Lys
XM_011523598.1:c.745G>A	XP_011521900.1:p.Glu249Lys
XM_011523599.1:c.739G>A	XP_011521901.1:p.Glu247Lys
XM_011523600.1:c.601G>A	XP_011521902.1:p.Glu201Lys
XR_430033.2:n.2395G>A
XM_005256396.4:c.2236G>A	XP_005256453.1:p.Glu746Lys
XM_005256399.5:c.1003G>A	XP_005256456.1:p.Glu335Lys
XM_005256404.4:c.601G>A	XP_005256461.1:p.Glu201Lys
XM_006722291.4:c.991G>A	XP_006722354.1:p.Glu331Lys
XM_006722292.3:c.601G>A	XP_006722355.1:p.Glu201Lys
XM_011523589.2:c.1942G>A	XP_011521891.1:p.Glu648Lys
XM_011523591.2:c.1927G>A	XP_011521893.1:p.Glu643Lys
XM_011523593.2:c.1534G>A	XP_011521895.1:p.Glu512Lys
XM_011523594.2:c.1015G>A	XP_011521896.1:p.Glu339Lys
XM_011523595.3:c.982G>A	XP_011521897.1:p.Glu328Lys
XM_011523597.2:c.748G>A	XP_011521899.1:p.Glu250Lys
XM_011523599.2:c.739G>A	XP_011521901.1:p.Glu247Lys
XM_011523600.3:c.601G>A	XP_011521902.1:p.Glu201Lys
XM_017024987.1:c.2098G>A	XP_016880476.1:p.Glu700Lys
XM_017024989.1:c.649G>A	XP_016880478.1:p.Glu217Lys
XM_017024990.2:c.601G>A	XP_016880479.1:p.Glu201Lys
XM_024450899.1:c.601G>A	XP_024306667.1:p.Glu201Lys
XM_024450900.1:c.601G>A	XP_024306668.1:p.Glu201Lys
XM_024450901.1:c.601G>A	XP_024306669.1:p.Glu201Lys
XM_024450902.1:c.601G>A	XP_024306670.1:p.Glu201Lys
XR_001752597.1:n.2395G>A
XR_001752598.1:n.2395G>A
XR_001752599.1:n.2395G>A
XR_001752600.1:n.2313G>A
NM_005993.5:c.2287G>A MANE Select	NP_005984.3:p.Glu763Lys