Canonical Allele Identifier: CA502597409

Gene: TBCD

Linked Data

• gnomAD v4: 17-82924979-C-A
• MyVariant Identifiers: chr17:g.80882855C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924979C>A , CM000679.2:g.82924979C>A	GRCh38
NC_000017.10:g.80882855C>A , CM000679.1:g.80882855C>A	GRCh37
NC_000017.9:g.78476144C>A	NCBI36
NG_011721.1:g.177916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1509C>A
ENST00000576677.6:n.1430C>A
ENST00000681983.1:n.2437C>A
ENST00000682099.1:n.1198C>A
ENST00000682213.1:c.*272C>A	ENSP00000508166.1:n.*272C>A
ENST00000682315.1:c.615C>A	ENSP00000507232.1:p.Pro205=
ENST00000682479.1:c.2391C>A	ENSP00000508214.1:p.Pro797=
ENST00000682610.1:n.1541C>A
ENST00000682654.1:c.*272C>A	ENSP00000507412.1:n.*272C>A
ENST00000682722.1:c.2250C>A	ENSP00000508364.1:p.Pro750=
ENST00000683041.1:c.*272C>A	ENSP00000506994.1:n.*272C>A
ENST00000683184.1:c.*1954C>A	ENSP00000507757.1:n.*1954C>A
ENST00000683282.1:c.2217C>A	ENSP00000506913.1:p.Pro739=
ENST00000683444.1:c.*1878C>A	ENSP00000507553.1:n.*1878C>A
ENST00000683584.1:n.1124C>A
ENST00000683821.1:c.615C>A	ENSP00000507651.1:p.Pro205=
ENST00000683839.1:n.1755C>A
ENST00000684000.1:c.2385C>A	ENSP00000506795.1:p.Pro795=
ENST00000684188.1:c.2112C>A	ENSP00000507153.1:p.Pro704=
ENST00000684349.1:c.2487C>A	ENSP00000508067.1:p.Pro829=
ENST00000684361.1:c.2301C>A	ENSP00000507364.1:p.Pro767=
ENST00000684408.1:c.1944C>A	ENSP00000506837.1:p.Pro648=
ENST00000684429.1:c.2229C>A	ENSP00000507224.1:p.Pro743=
ENST00000684464.1:c.2394C>A	ENSP00000508333.1:p.Pro798=
ENST00000684544.1:c.2220C>A	ENSP00000507337.1:p.Pro740=
ENST00000684559.1:n.1056C>A
ENST00000684760.1:c.2568C>A	ENSP00000507696.1:p.Pro856=
ENST00000684776.1:c.*784C>A	ENSP00000507861.1:n.*784C>A
ENST00000355528.9:c.2301C>A MANE Select	ENSP00000347719.4:p.Pro767=
ENST00000355528.8:c.2301C>A	ENSP00000347719.4:p.Pro767=
ENST00000539345.6:c.2301C>A	ENSP00000440671.2:p.Pro767=
ENST00000571618.5:n.479C>A
ENST00000571796.5:n.959C>A
ENST00000574422.1:c.615C>A	ENSP00000458599.1:p.Pro205=
ENST00000574818.5:n.359C>A
ENST00000574886.1:n.685C>A
ENST00000574975.5:c.678C>A	ENSP00000461680.1:p.Pro226=
ENST00000576760.5:c.615C>A	ENSP00000460949.1:p.Pro205=
NM_005993.4:c.2301C>A	NP_005984.3:p.Pro767=
XM_005256396.3:c.2250C>A	XP_005256453.1:p.Pro750=
XM_005256399.3:c.1017C>A	XP_005256456.1:p.Pro339=
XM_005256400.3:c.615C>A	XP_005256457.1:p.Pro205=
XM_005256401.3:c.615C>A	XP_005256458.1:p.Pro205=
XM_005256402.3:c.615C>A	XP_005256459.1:p.Pro205=
XM_005256403.3:c.615C>A	XP_005256460.1:p.Pro205=
XM_005256404.3:c.615C>A	XP_005256461.1:p.Pro205=
XM_006722290.2:c.2220C>A	XP_006722353.1:p.Pro740=
XM_006722291.2:c.1005C>A	XP_006722354.1:p.Pro335=
XM_006722292.2:c.615C>A	XP_006722355.1:p.Pro205=
XM_011523589.1:c.1956C>A	XP_011521891.1:p.Pro652=
XM_011523590.1:c.1944C>A	XP_011521892.1:p.Pro648=
XM_011523591.1:c.1941C>A	XP_011521893.1:p.Pro647=
XM_011523592.1:c.1854C>A	XP_011521894.1:p.Pro618=
XM_011523593.1:c.1548C>A	XP_011521895.1:p.Pro516=
XM_011523594.1:c.1029C>A	XP_011521896.1:p.Pro343=
XM_011523595.1:c.996C>A	XP_011521897.1:p.Pro332=
XM_011523596.1:c.*32C>A	XP_011521898.1:n.*32C>A
XM_011523597.1:c.762C>A	XP_011521899.1:p.Pro254=
XM_011523598.1:c.759C>A	XP_011521900.1:p.Pro253=
XM_011523599.1:c.753C>A	XP_011521901.1:p.Pro251=
XM_011523600.1:c.615C>A	XP_011521902.1:p.Pro205=
XR_430033.2:n.2409C>A
XM_005256396.4:c.2250C>A	XP_005256453.1:p.Pro750=
XM_005256399.5:c.1017C>A	XP_005256456.1:p.Pro339=
XM_005256404.4:c.615C>A	XP_005256461.1:p.Pro205=
XM_006722291.4:c.1005C>A	XP_006722354.1:p.Pro335=
XM_006722292.3:c.615C>A	XP_006722355.1:p.Pro205=
XM_011523589.2:c.1956C>A	XP_011521891.1:p.Pro652=
XM_011523591.2:c.1941C>A	XP_011521893.1:p.Pro647=
XM_011523593.2:c.1548C>A	XP_011521895.1:p.Pro516=
XM_011523594.2:c.1029C>A	XP_011521896.1:p.Pro343=
XM_011523595.3:c.996C>A	XP_011521897.1:p.Pro332=
XM_011523597.2:c.762C>A	XP_011521899.1:p.Pro254=
XM_011523599.2:c.753C>A	XP_011521901.1:p.Pro251=
XM_011523600.3:c.615C>A	XP_011521902.1:p.Pro205=
XM_017024987.1:c.2112C>A	XP_016880476.1:p.Pro704=
XM_017024989.1:c.663C>A	XP_016880478.1:p.Pro221=
XM_017024990.2:c.615C>A	XP_016880479.1:p.Pro205=
XM_024450899.1:c.615C>A	XP_024306667.1:p.Pro205=
XM_024450900.1:c.615C>A	XP_024306668.1:p.Pro205=
XM_024450901.1:c.615C>A	XP_024306669.1:p.Pro205=
XM_024450902.1:c.615C>A	XP_024306670.1:p.Pro205=
XR_001752597.1:n.2409C>A
XR_001752598.1:n.2409C>A
XR_001752599.1:n.2409C>A
XR_001752600.1:n.2327C>A
NM_005993.5:c.2301C>A MANE Select	NP_005984.3:p.Pro767=