Canonical Allele Identifier: CA401633319

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924968-C-T
• MyVariant Identifiers: chr17:g.80882844C>T (hg19) ; chr17:g.82924968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924968C>T , CM000679.2:g.82924968C>T	GRCh38
NC_000017.10:g.80882844C>T , CM000679.1:g.80882844C>T	GRCh37
NC_000017.9:g.78476133C>T	NCBI36
NG_011721.1:g.177905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1498C>T
ENST00000576677.6:n.1419C>T
ENST00000681983.1:n.2426C>T
ENST00000682099.1:n.1187C>T
ENST00000682213.1:c.*261C>T	ENSP00000508166.1:n.*261C>T
ENST00000682315.1:c.604C>T	ENSP00000507232.1:p.Leu202Phe
ENST00000682479.1:c.2380C>T	ENSP00000508214.1:p.Leu794Phe
ENST00000682610.1:n.1530C>T
ENST00000682654.1:c.*261C>T	ENSP00000507412.1:n.*261C>T
ENST00000682722.1:c.2239C>T	ENSP00000508364.1:p.Leu747Phe
ENST00000683041.1:c.*261C>T	ENSP00000506994.1:n.*261C>T
ENST00000683184.1:c.*1943C>T	ENSP00000507757.1:n.*1943C>T
ENST00000683282.1:c.2206C>T	ENSP00000506913.1:p.Leu736Phe
ENST00000683444.1:c.*1867C>T	ENSP00000507553.1:n.*1867C>T
ENST00000683584.1:n.1113C>T
ENST00000683821.1:c.604C>T	ENSP00000507651.1:p.Leu202Phe
ENST00000683839.1:n.1744C>T
ENST00000684000.1:c.2374C>T	ENSP00000506795.1:p.Leu792Phe
ENST00000684188.1:c.2101C>T	ENSP00000507153.1:p.Leu701Phe
ENST00000684349.1:c.2476C>T	ENSP00000508067.1:p.Leu826Phe
ENST00000684361.1:c.2290C>T	ENSP00000507364.1:p.Leu764Phe
ENST00000684408.1:c.1933C>T	ENSP00000506837.1:p.Leu645Phe
ENST00000684429.1:c.2218C>T	ENSP00000507224.1:p.Leu740Phe
ENST00000684464.1:c.2383C>T	ENSP00000508333.1:p.Leu795Phe
ENST00000684544.1:c.2209C>T	ENSP00000507337.1:p.Leu737Phe
ENST00000684559.1:n.1045C>T
ENST00000684760.1:c.2557C>T	ENSP00000507696.1:p.Leu853Phe
ENST00000684776.1:c.*773C>T	ENSP00000507861.1:n.*773C>T
ENST00000355528.9:c.2290C>T MANE Select	ENSP00000347719.4:p.Leu764Phe
ENST00000355528.8:c.2290C>T	ENSP00000347719.4:p.Leu764Phe
ENST00000539345.6:c.2290C>T	ENSP00000440671.2:p.Leu764Phe
ENST00000571618.5:n.468C>T
ENST00000571796.5:n.948C>T
ENST00000574422.1:c.604C>T	ENSP00000458599.1:p.Leu202Phe
ENST00000574818.5:n.348C>T
ENST00000574886.1:n.674C>T
ENST00000574975.5:c.667C>T	ENSP00000461680.1:p.Leu223Phe
ENST00000576760.5:c.604C>T	ENSP00000460949.1:p.Leu202Phe
NM_005993.4:c.2290C>T	NP_005984.3:p.Leu764Phe
XM_005256396.3:c.2239C>T	XP_005256453.1:p.Leu747Phe
XM_005256399.3:c.1006C>T	XP_005256456.1:p.Leu336Phe
XM_005256400.3:c.604C>T	XP_005256457.1:p.Leu202Phe
XM_005256401.3:c.604C>T	XP_005256458.1:p.Leu202Phe
XM_005256402.3:c.604C>T	XP_005256459.1:p.Leu202Phe
XM_005256403.3:c.604C>T	XP_005256460.1:p.Leu202Phe
XM_005256404.3:c.604C>T	XP_005256461.1:p.Leu202Phe
XM_006722290.2:c.2209C>T	XP_006722353.1:p.Leu737Phe
XM_006722291.2:c.994C>T	XP_006722354.1:p.Leu332Phe
XM_006722292.2:c.604C>T	XP_006722355.1:p.Leu202Phe
XM_011523589.1:c.1945C>T	XP_011521891.1:p.Leu649Phe
XM_011523590.1:c.1933C>T	XP_011521892.1:p.Leu645Phe
XM_011523591.1:c.1930C>T	XP_011521893.1:p.Leu644Phe
XM_011523592.1:c.1843C>T	XP_011521894.1:p.Leu615Phe
XM_011523593.1:c.1537C>T	XP_011521895.1:p.Leu513Phe
XM_011523594.1:c.1018C>T	XP_011521896.1:p.Leu340Phe
XM_011523595.1:c.985C>T	XP_011521897.1:p.Leu329Phe
XM_011523596.1:c.*21C>T	XP_011521898.1:n.*21C>T
XM_011523597.1:c.751C>T	XP_011521899.1:p.Leu251Phe
XM_011523598.1:c.748C>T	XP_011521900.1:p.Leu250Phe
XM_011523599.1:c.742C>T	XP_011521901.1:p.Leu248Phe
XM_011523600.1:c.604C>T	XP_011521902.1:p.Leu202Phe
XR_430033.2:n.2398C>T
XM_005256396.4:c.2239C>T	XP_005256453.1:p.Leu747Phe
XM_005256399.5:c.1006C>T	XP_005256456.1:p.Leu336Phe
XM_005256404.4:c.604C>T	XP_005256461.1:p.Leu202Phe
XM_006722291.4:c.994C>T	XP_006722354.1:p.Leu332Phe
XM_006722292.3:c.604C>T	XP_006722355.1:p.Leu202Phe
XM_011523589.2:c.1945C>T	XP_011521891.1:p.Leu649Phe
XM_011523591.2:c.1930C>T	XP_011521893.1:p.Leu644Phe
XM_011523593.2:c.1537C>T	XP_011521895.1:p.Leu513Phe
XM_011523594.2:c.1018C>T	XP_011521896.1:p.Leu340Phe
XM_011523595.3:c.985C>T	XP_011521897.1:p.Leu329Phe
XM_011523597.2:c.751C>T	XP_011521899.1:p.Leu251Phe
XM_011523599.2:c.742C>T	XP_011521901.1:p.Leu248Phe
XM_011523600.3:c.604C>T	XP_011521902.1:p.Leu202Phe
XM_017024987.1:c.2101C>T	XP_016880476.1:p.Leu701Phe
XM_017024989.1:c.652C>T	XP_016880478.1:p.Leu218Phe
XM_017024990.2:c.604C>T	XP_016880479.1:p.Leu202Phe
XM_024450899.1:c.604C>T	XP_024306667.1:p.Leu202Phe
XM_024450900.1:c.604C>T	XP_024306668.1:p.Leu202Phe
XM_024450901.1:c.604C>T	XP_024306669.1:p.Leu202Phe
XM_024450902.1:c.604C>T	XP_024306670.1:p.Leu202Phe
XR_001752597.1:n.2398C>T
XR_001752598.1:n.2398C>T
XR_001752599.1:n.2398C>T
XR_001752600.1:n.2316C>T
NM_005993.5:c.2290C>T MANE Select	NP_005984.3:p.Leu764Phe