Canonical Allele Identifier: CA401633323

Gene: TBCD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1499T>C
ENST00000576677.6:n.1420T>C
ENST00000681983.1:n.2427T>C
ENST00000682099.1:n.1188T>C
ENST00000682213.1:c.*262T>C	ENSP00000508166.1:n.*262T>C
ENST00000682315.1:c.605T>C	ENSP00000507232.1:p.Leu202Pro
ENST00000682479.1:c.2381T>C	ENSP00000508214.1:p.Leu794Pro
ENST00000682610.1:n.1531T>C
ENST00000682654.1:c.*262T>C	ENSP00000507412.1:n.*262T>C
ENST00000682722.1:c.2240T>C	ENSP00000508364.1:p.Leu747Pro
ENST00000683041.1:c.*262T>C	ENSP00000506994.1:n.*262T>C
ENST00000683184.1:c.*1944T>C	ENSP00000507757.1:n.*1944T>C
ENST00000683282.1:c.2207T>C	ENSP00000506913.1:p.Leu736Pro
ENST00000683444.1:c.*1868T>C	ENSP00000507553.1:n.*1868T>C
ENST00000683584.1:n.1114T>C
ENST00000683821.1:c.605T>C	ENSP00000507651.1:p.Leu202Pro
ENST00000683839.1:n.1745T>C
ENST00000684000.1:c.2375T>C	ENSP00000506795.1:p.Leu792Pro
ENST00000684188.1:c.2102T>C	ENSP00000507153.1:p.Leu701Pro
ENST00000684349.1:c.2477T>C	ENSP00000508067.1:p.Leu826Pro
ENST00000684361.1:c.2291T>C	ENSP00000507364.1:p.Leu764Pro
ENST00000684408.1:c.1934T>C	ENSP00000506837.1:p.Leu645Pro
ENST00000684429.1:c.2219T>C	ENSP00000507224.1:p.Leu740Pro
ENST00000684464.1:c.2384T>C	ENSP00000508333.1:p.Leu795Pro
ENST00000684544.1:c.2210T>C	ENSP00000507337.1:p.Leu737Pro
ENST00000684559.1:n.1046T>C
ENST00000684760.1:c.2558T>C	ENSP00000507696.1:p.Leu853Pro
ENST00000684776.1:c.*774T>C	ENSP00000507861.1:n.*774T>C
ENST00000355528.9:c.2291T>C MANE Select	ENSP00000347719.4:p.Leu764Pro
ENST00000355528.8:c.2291T>C	ENSP00000347719.4:p.Leu764Pro
ENST00000539345.6:c.2291T>C	ENSP00000440671.2:p.Leu764Pro
ENST00000571618.5:n.469T>C
ENST00000571796.5:n.949T>C
ENST00000574422.1:c.605T>C	ENSP00000458599.1:p.Leu202Pro
ENST00000574818.5:n.349T>C
ENST00000574886.1:n.675T>C
ENST00000574975.5:c.668T>C	ENSP00000461680.1:p.Leu223Pro
ENST00000576760.5:c.605T>C	ENSP00000460949.1:p.Leu202Pro
NM_005993.4:c.2291T>C	NP_005984.3:p.Leu764Pro
XM_005256396.3:c.2240T>C	XP_005256453.1:p.Leu747Pro
XM_005256399.3:c.1007T>C	XP_005256456.1:p.Leu336Pro
XM_005256400.3:c.605T>C	XP_005256457.1:p.Leu202Pro
XM_005256401.3:c.605T>C	XP_005256458.1:p.Leu202Pro
XM_005256402.3:c.605T>C	XP_005256459.1:p.Leu202Pro
XM_005256403.3:c.605T>C	XP_005256460.1:p.Leu202Pro
XM_005256404.3:c.605T>C	XP_005256461.1:p.Leu202Pro
XM_006722290.2:c.2210T>C	XP_006722353.1:p.Leu737Pro
XM_006722291.2:c.995T>C	XP_006722354.1:p.Leu332Pro
XM_006722292.2:c.605T>C	XP_006722355.1:p.Leu202Pro
XM_011523589.1:c.1946T>C	XP_011521891.1:p.Leu649Pro
XM_011523590.1:c.1934T>C	XP_011521892.1:p.Leu645Pro
XM_011523591.1:c.1931T>C	XP_011521893.1:p.Leu644Pro
XM_011523592.1:c.1844T>C	XP_011521894.1:p.Leu615Pro
XM_011523593.1:c.1538T>C	XP_011521895.1:p.Leu513Pro
XM_011523594.1:c.1019T>C	XP_011521896.1:p.Leu340Pro
XM_011523595.1:c.986T>C	XP_011521897.1:p.Leu329Pro
XM_011523596.1:c.*22T>C	XP_011521898.1:n.*22T>C
XM_011523597.1:c.752T>C	XP_011521899.1:p.Leu251Pro
XM_011523598.1:c.749T>C	XP_011521900.1:p.Leu250Pro
XM_011523599.1:c.743T>C	XP_011521901.1:p.Leu248Pro
XM_011523600.1:c.605T>C	XP_011521902.1:p.Leu202Pro
XR_430033.2:n.2399T>C
XM_005256396.4:c.2240T>C	XP_005256453.1:p.Leu747Pro
XM_005256399.5:c.1007T>C	XP_005256456.1:p.Leu336Pro
XM_005256404.4:c.605T>C	XP_005256461.1:p.Leu202Pro
XM_006722291.4:c.995T>C	XP_006722354.1:p.Leu332Pro
XM_006722292.3:c.605T>C	XP_006722355.1:p.Leu202Pro
XM_011523589.2:c.1946T>C	XP_011521891.1:p.Leu649Pro
XM_011523591.2:c.1931T>C	XP_011521893.1:p.Leu644Pro
XM_011523593.2:c.1538T>C	XP_011521895.1:p.Leu513Pro
XM_011523594.2:c.1019T>C	XP_011521896.1:p.Leu340Pro
XM_011523595.3:c.986T>C	XP_011521897.1:p.Leu329Pro
XM_011523597.2:c.752T>C	XP_011521899.1:p.Leu251Pro
XM_011523599.2:c.743T>C	XP_011521901.1:p.Leu248Pro
XM_011523600.3:c.605T>C	XP_011521902.1:p.Leu202Pro
XM_017024987.1:c.2102T>C	XP_016880476.1:p.Leu701Pro
XM_017024989.1:c.653T>C	XP_016880478.1:p.Leu218Pro
XM_017024990.2:c.605T>C	XP_016880479.1:p.Leu202Pro
XM_024450899.1:c.605T>C	XP_024306667.1:p.Leu202Pro
XM_024450900.1:c.605T>C	XP_024306668.1:p.Leu202Pro
XM_024450901.1:c.605T>C	XP_024306669.1:p.Leu202Pro
XM_024450902.1:c.605T>C	XP_024306670.1:p.Leu202Pro
XR_001752597.1:n.2399T>C
XR_001752598.1:n.2399T>C
XR_001752599.1:n.2399T>C
XR_001752600.1:n.2317T>C
NM_005993.5:c.2291T>C MANE Select	NP_005984.3:p.Leu764Pro