Canonical Allele Identifier: CA401633418

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924990-C-A
• MyVariant Identifiers: chr17:g.80882866C>A (hg19) ; chr17:g.82924990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924990C>A , CM000679.2:g.82924990C>A	GRCh38
NC_000017.10:g.80882866C>A , CM000679.1:g.80882866C>A	GRCh37
NC_000017.9:g.78476155C>A	NCBI36
NG_011721.1:g.177927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1520C>A
ENST00000576677.6:n.1441C>A
ENST00000681983.1:n.2448C>A
ENST00000682099.1:n.1209C>A
ENST00000682213.1:c.*283C>A	ENSP00000508166.1:n.*283C>A
ENST00000682315.1:c.626C>A	ENSP00000507232.1:p.Thr209Asn
ENST00000682479.1:c.2402C>A	ENSP00000508214.1:p.Thr801Asn
ENST00000682610.1:n.1552C>A
ENST00000682654.1:c.*283C>A	ENSP00000507412.1:n.*283C>A
ENST00000682722.1:c.2261C>A	ENSP00000508364.1:p.Thr754Asn
ENST00000683041.1:c.*283C>A	ENSP00000506994.1:n.*283C>A
ENST00000683184.1:c.*1965C>A	ENSP00000507757.1:n.*1965C>A
ENST00000683282.1:c.2228C>A	ENSP00000506913.1:p.Thr743Asn
ENST00000683444.1:c.*1889C>A	ENSP00000507553.1:n.*1889C>A
ENST00000683584.1:n.1135C>A
ENST00000683821.1:c.626C>A	ENSP00000507651.1:p.Thr209Asn
ENST00000683839.1:n.1766C>A
ENST00000684000.1:c.2396C>A	ENSP00000506795.1:p.Thr799Asn
ENST00000684188.1:c.2123C>A	ENSP00000507153.1:p.Thr708Asn
ENST00000684349.1:c.2498C>A	ENSP00000508067.1:p.Thr833Asn
ENST00000684361.1:c.2312C>A	ENSP00000507364.1:p.Thr771Asn
ENST00000684408.1:c.1955C>A	ENSP00000506837.1:p.Thr652Asn
ENST00000684429.1:c.2240C>A	ENSP00000507224.1:p.Thr747Asn
ENST00000684464.1:c.2405C>A	ENSP00000508333.1:p.Thr802Asn
ENST00000684544.1:c.2231C>A	ENSP00000507337.1:p.Thr744Asn
ENST00000684559.1:n.1067C>A
ENST00000684760.1:c.2579C>A	ENSP00000507696.1:p.Thr860Asn
ENST00000684776.1:c.*795C>A	ENSP00000507861.1:n.*795C>A
ENST00000355528.9:c.2312C>A MANE Select	ENSP00000347719.4:p.Thr771Asn
ENST00000355528.8:c.2312C>A	ENSP00000347719.4:p.Thr771Asn
ENST00000539345.6:c.2312C>A	ENSP00000440671.2:p.Thr771Asn
ENST00000571618.5:n.490C>A
ENST00000571796.5:n.970C>A
ENST00000574422.1:c.626C>A	ENSP00000458599.1:p.Thr209Asn
ENST00000574818.5:n.370C>A
ENST00000574886.1:n.696C>A
ENST00000574975.5:c.689C>A	ENSP00000461680.1:p.Thr230Asn
ENST00000576760.5:c.626C>A	ENSP00000460949.1:p.Thr209Asn
NM_005993.4:c.2312C>A	NP_005984.3:p.Thr771Asn
XM_005256396.3:c.2261C>A	XP_005256453.1:p.Thr754Asn
XM_005256399.3:c.1028C>A	XP_005256456.1:p.Thr343Asn
XM_005256400.3:c.626C>A	XP_005256457.1:p.Thr209Asn
XM_005256401.3:c.626C>A	XP_005256458.1:p.Thr209Asn
XM_005256402.3:c.626C>A	XP_005256459.1:p.Thr209Asn
XM_005256403.3:c.626C>A	XP_005256460.1:p.Thr209Asn
XM_005256404.3:c.626C>A	XP_005256461.1:p.Thr209Asn
XM_006722290.2:c.2231C>A	XP_006722353.1:p.Thr744Asn
XM_006722291.2:c.1016C>A	XP_006722354.1:p.Thr339Asn
XM_006722292.2:c.626C>A	XP_006722355.1:p.Thr209Asn
XM_011523589.1:c.1967C>A	XP_011521891.1:p.Thr656Asn
XM_011523590.1:c.1955C>A	XP_011521892.1:p.Thr652Asn
XM_011523591.1:c.1952C>A	XP_011521893.1:p.Thr651Asn
XM_011523592.1:c.1865C>A	XP_011521894.1:p.Thr622Asn
XM_011523593.1:c.1559C>A	XP_011521895.1:p.Thr520Asn
XM_011523594.1:c.1040C>A	XP_011521896.1:p.Thr347Asn
XM_011523595.1:c.1007C>A	XP_011521897.1:p.Thr336Asn
XM_011523596.1:c.*43C>A	XP_011521898.1:n.*43C>A
XM_011523597.1:c.773C>A	XP_011521899.1:p.Thr258Asn
XM_011523598.1:c.770C>A	XP_011521900.1:p.Thr257Asn
XM_011523599.1:c.764C>A	XP_011521901.1:p.Thr255Asn
XM_011523600.1:c.626C>A	XP_011521902.1:p.Thr209Asn
XR_430033.2:n.2420C>A
XM_005256396.4:c.2261C>A	XP_005256453.1:p.Thr754Asn
XM_005256399.5:c.1028C>A	XP_005256456.1:p.Thr343Asn
XM_005256404.4:c.626C>A	XP_005256461.1:p.Thr209Asn
XM_006722291.4:c.1016C>A	XP_006722354.1:p.Thr339Asn
XM_006722292.3:c.626C>A	XP_006722355.1:p.Thr209Asn
XM_011523589.2:c.1967C>A	XP_011521891.1:p.Thr656Asn
XM_011523591.2:c.1952C>A	XP_011521893.1:p.Thr651Asn
XM_011523593.2:c.1559C>A	XP_011521895.1:p.Thr520Asn
XM_011523594.2:c.1040C>A	XP_011521896.1:p.Thr347Asn
XM_011523595.3:c.1007C>A	XP_011521897.1:p.Thr336Asn
XM_011523597.2:c.773C>A	XP_011521899.1:p.Thr258Asn
XM_011523599.2:c.764C>A	XP_011521901.1:p.Thr255Asn
XM_011523600.3:c.626C>A	XP_011521902.1:p.Thr209Asn
XM_017024987.1:c.2123C>A	XP_016880476.1:p.Thr708Asn
XM_017024989.1:c.674C>A	XP_016880478.1:p.Thr225Asn
XM_017024990.2:c.626C>A	XP_016880479.1:p.Thr209Asn
XM_024450899.1:c.626C>A	XP_024306667.1:p.Thr209Asn
XM_024450900.1:c.626C>A	XP_024306668.1:p.Thr209Asn
XM_024450901.1:c.626C>A	XP_024306669.1:p.Thr209Asn
XM_024450902.1:c.626C>A	XP_024306670.1:p.Thr209Asn
XR_001752597.1:n.2420C>A
XR_001752598.1:n.2420C>A
XR_001752599.1:n.2420C>A
XR_001752600.1:n.2338C>A
NM_005993.5:c.2312C>A MANE Select	NP_005984.3:p.Thr771Asn