Canonical Allele Identifier: CA401633322

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924969-T-A
• MyVariant Identifiers: chr17:g.80882845T>A (hg19) ; chr17:g.82924969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924969T>A , CM000679.2:g.82924969T>A	GRCh38
NC_000017.10:g.80882845T>A , CM000679.1:g.80882845T>A	GRCh37
NC_000017.9:g.78476134T>A	NCBI36
NG_011721.1:g.177906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1499T>A
ENST00000576677.6:n.1420T>A
ENST00000681983.1:n.2427T>A
ENST00000682099.1:n.1188T>A
ENST00000682213.1:c.*262T>A	ENSP00000508166.1:n.*262T>A
ENST00000682315.1:c.605T>A	ENSP00000507232.1:p.Leu202His
ENST00000682479.1:c.2381T>A	ENSP00000508214.1:p.Leu794His
ENST00000682610.1:n.1531T>A
ENST00000682654.1:c.*262T>A	ENSP00000507412.1:n.*262T>A
ENST00000682722.1:c.2240T>A	ENSP00000508364.1:p.Leu747His
ENST00000683041.1:c.*262T>A	ENSP00000506994.1:n.*262T>A
ENST00000683184.1:c.*1944T>A	ENSP00000507757.1:n.*1944T>A
ENST00000683282.1:c.2207T>A	ENSP00000506913.1:p.Leu736His
ENST00000683444.1:c.*1868T>A	ENSP00000507553.1:n.*1868T>A
ENST00000683584.1:n.1114T>A
ENST00000683821.1:c.605T>A	ENSP00000507651.1:p.Leu202His
ENST00000683839.1:n.1745T>A
ENST00000684000.1:c.2375T>A	ENSP00000506795.1:p.Leu792His
ENST00000684188.1:c.2102T>A	ENSP00000507153.1:p.Leu701His
ENST00000684349.1:c.2477T>A	ENSP00000508067.1:p.Leu826His
ENST00000684361.1:c.2291T>A	ENSP00000507364.1:p.Leu764His
ENST00000684408.1:c.1934T>A	ENSP00000506837.1:p.Leu645His
ENST00000684429.1:c.2219T>A	ENSP00000507224.1:p.Leu740His
ENST00000684464.1:c.2384T>A	ENSP00000508333.1:p.Leu795His
ENST00000684544.1:c.2210T>A	ENSP00000507337.1:p.Leu737His
ENST00000684559.1:n.1046T>A
ENST00000684760.1:c.2558T>A	ENSP00000507696.1:p.Leu853His
ENST00000684776.1:c.*774T>A	ENSP00000507861.1:n.*774T>A
ENST00000355528.9:c.2291T>A MANE Select	ENSP00000347719.4:p.Leu764His
ENST00000355528.8:c.2291T>A	ENSP00000347719.4:p.Leu764His
ENST00000539345.6:c.2291T>A	ENSP00000440671.2:p.Leu764His
ENST00000571618.5:n.469T>A
ENST00000571796.5:n.949T>A
ENST00000574422.1:c.605T>A	ENSP00000458599.1:p.Leu202His
ENST00000574818.5:n.349T>A
ENST00000574886.1:n.675T>A
ENST00000574975.5:c.668T>A	ENSP00000461680.1:p.Leu223His
ENST00000576760.5:c.605T>A	ENSP00000460949.1:p.Leu202His
NM_005993.4:c.2291T>A	NP_005984.3:p.Leu764His
XM_005256396.3:c.2240T>A	XP_005256453.1:p.Leu747His
XM_005256399.3:c.1007T>A	XP_005256456.1:p.Leu336His
XM_005256400.3:c.605T>A	XP_005256457.1:p.Leu202His
XM_005256401.3:c.605T>A	XP_005256458.1:p.Leu202His
XM_005256402.3:c.605T>A	XP_005256459.1:p.Leu202His
XM_005256403.3:c.605T>A	XP_005256460.1:p.Leu202His
XM_005256404.3:c.605T>A	XP_005256461.1:p.Leu202His
XM_006722290.2:c.2210T>A	XP_006722353.1:p.Leu737His
XM_006722291.2:c.995T>A	XP_006722354.1:p.Leu332His
XM_006722292.2:c.605T>A	XP_006722355.1:p.Leu202His
XM_011523589.1:c.1946T>A	XP_011521891.1:p.Leu649His
XM_011523590.1:c.1934T>A	XP_011521892.1:p.Leu645His
XM_011523591.1:c.1931T>A	XP_011521893.1:p.Leu644His
XM_011523592.1:c.1844T>A	XP_011521894.1:p.Leu615His
XM_011523593.1:c.1538T>A	XP_011521895.1:p.Leu513His
XM_011523594.1:c.1019T>A	XP_011521896.1:p.Leu340His
XM_011523595.1:c.986T>A	XP_011521897.1:p.Leu329His
XM_011523596.1:c.*22T>A	XP_011521898.1:n.*22T>A
XM_011523597.1:c.752T>A	XP_011521899.1:p.Leu251His
XM_011523598.1:c.749T>A	XP_011521900.1:p.Leu250His
XM_011523599.1:c.743T>A	XP_011521901.1:p.Leu248His
XM_011523600.1:c.605T>A	XP_011521902.1:p.Leu202His
XR_430033.2:n.2399T>A
XM_005256396.4:c.2240T>A	XP_005256453.1:p.Leu747His
XM_005256399.5:c.1007T>A	XP_005256456.1:p.Leu336His
XM_005256404.4:c.605T>A	XP_005256461.1:p.Leu202His
XM_006722291.4:c.995T>A	XP_006722354.1:p.Leu332His
XM_006722292.3:c.605T>A	XP_006722355.1:p.Leu202His
XM_011523589.2:c.1946T>A	XP_011521891.1:p.Leu649His
XM_011523591.2:c.1931T>A	XP_011521893.1:p.Leu644His
XM_011523593.2:c.1538T>A	XP_011521895.1:p.Leu513His
XM_011523594.2:c.1019T>A	XP_011521896.1:p.Leu340His
XM_011523595.3:c.986T>A	XP_011521897.1:p.Leu329His
XM_011523597.2:c.752T>A	XP_011521899.1:p.Leu251His
XM_011523599.2:c.743T>A	XP_011521901.1:p.Leu248His
XM_011523600.3:c.605T>A	XP_011521902.1:p.Leu202His
XM_017024987.1:c.2102T>A	XP_016880476.1:p.Leu701His
XM_017024989.1:c.653T>A	XP_016880478.1:p.Leu218His
XM_017024990.2:c.605T>A	XP_016880479.1:p.Leu202His
XM_024450899.1:c.605T>A	XP_024306667.1:p.Leu202His
XM_024450900.1:c.605T>A	XP_024306668.1:p.Leu202His
XM_024450901.1:c.605T>A	XP_024306669.1:p.Leu202His
XM_024450902.1:c.605T>A	XP_024306670.1:p.Leu202His
XR_001752597.1:n.2399T>A
XR_001752598.1:n.2399T>A
XR_001752599.1:n.2399T>A
XR_001752600.1:n.2317T>A
NM_005993.5:c.2291T>A MANE Select	NP_005984.3:p.Leu764His