Canonical Allele Identifier: CA401633359

Gene: TBCD

Linked Data

• ClinVar Variation Id: 1419389
• ClinVar RCV Id: RCV001940647
• dbSNP Id: rs1247310580
• gnomAD v2: 17-80882854-C-T
• gnomAD v3: 17-82924978-C-T
• gnomAD v4: 17-82924978-C-T
• MyVariant Identifiers: chr17:g.80882854C>T (hg19) ; chr17:g.82924978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924978C>T , CM000679.2:g.82924978C>T	GRCh38
NC_000017.10:g.80882854C>T , CM000679.1:g.80882854C>T	GRCh37
NC_000017.9:g.78476143C>T	NCBI36
NG_011721.1:g.177915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1508C>T
ENST00000576677.6:n.1429C>T
ENST00000681983.1:n.2436C>T
ENST00000682099.1:n.1197C>T
ENST00000682213.1:c.*271C>T	ENSP00000508166.1:n.*271C>T
ENST00000682315.1:c.614C>T	ENSP00000507232.1:p.Pro205Leu
ENST00000682479.1:c.2390C>T	ENSP00000508214.1:p.Pro797Leu
ENST00000682610.1:n.1540C>T
ENST00000682654.1:c.*271C>T	ENSP00000507412.1:n.*271C>T
ENST00000682722.1:c.2249C>T	ENSP00000508364.1:p.Pro750Leu
ENST00000683041.1:c.*271C>T	ENSP00000506994.1:n.*271C>T
ENST00000683184.1:c.*1953C>T	ENSP00000507757.1:n.*1953C>T
ENST00000683282.1:c.2216C>T	ENSP00000506913.1:p.Pro739Leu
ENST00000683444.1:c.*1877C>T	ENSP00000507553.1:n.*1877C>T
ENST00000683584.1:n.1123C>T
ENST00000683821.1:c.614C>T	ENSP00000507651.1:p.Pro205Leu
ENST00000683839.1:n.1754C>T
ENST00000684000.1:c.2384C>T	ENSP00000506795.1:p.Pro795Leu
ENST00000684188.1:c.2111C>T	ENSP00000507153.1:p.Pro704Leu
ENST00000684349.1:c.2486C>T	ENSP00000508067.1:p.Pro829Leu
ENST00000684361.1:c.2300C>T	ENSP00000507364.1:p.Pro767Leu
ENST00000684408.1:c.1943C>T	ENSP00000506837.1:p.Pro648Leu
ENST00000684429.1:c.2228C>T	ENSP00000507224.1:p.Pro743Leu
ENST00000684464.1:c.2393C>T	ENSP00000508333.1:p.Pro798Leu
ENST00000684544.1:c.2219C>T	ENSP00000507337.1:p.Pro740Leu
ENST00000684559.1:n.1055C>T
ENST00000684760.1:c.2567C>T	ENSP00000507696.1:p.Pro856Leu
ENST00000684776.1:c.*783C>T	ENSP00000507861.1:n.*783C>T
ENST00000355528.9:c.2300C>T MANE Select	ENSP00000347719.4:p.Pro767Leu
ENST00000355528.8:c.2300C>T	ENSP00000347719.4:p.Pro767Leu
ENST00000539345.6:c.2300C>T	ENSP00000440671.2:p.Pro767Leu
ENST00000571618.5:n.478C>T
ENST00000571796.5:n.958C>T
ENST00000574422.1:c.614C>T	ENSP00000458599.1:p.Pro205Leu
ENST00000574818.5:n.358C>T
ENST00000574886.1:n.684C>T
ENST00000574975.5:c.677C>T	ENSP00000461680.1:p.Pro226Leu
ENST00000576760.5:c.614C>T	ENSP00000460949.1:p.Pro205Leu
NM_005993.4:c.2300C>T	NP_005984.3:p.Pro767Leu
XM_005256396.3:c.2249C>T	XP_005256453.1:p.Pro750Leu
XM_005256399.3:c.1016C>T	XP_005256456.1:p.Pro339Leu
XM_005256400.3:c.614C>T	XP_005256457.1:p.Pro205Leu
XM_005256401.3:c.614C>T	XP_005256458.1:p.Pro205Leu
XM_005256402.3:c.614C>T	XP_005256459.1:p.Pro205Leu
XM_005256403.3:c.614C>T	XP_005256460.1:p.Pro205Leu
XM_005256404.3:c.614C>T	XP_005256461.1:p.Pro205Leu
XM_006722290.2:c.2219C>T	XP_006722353.1:p.Pro740Leu
XM_006722291.2:c.1004C>T	XP_006722354.1:p.Pro335Leu
XM_006722292.2:c.614C>T	XP_006722355.1:p.Pro205Leu
XM_011523589.1:c.1955C>T	XP_011521891.1:p.Pro652Leu
XM_011523590.1:c.1943C>T	XP_011521892.1:p.Pro648Leu
XM_011523591.1:c.1940C>T	XP_011521893.1:p.Pro647Leu
XM_011523592.1:c.1853C>T	XP_011521894.1:p.Pro618Leu
XM_011523593.1:c.1547C>T	XP_011521895.1:p.Pro516Leu
XM_011523594.1:c.1028C>T	XP_011521896.1:p.Pro343Leu
XM_011523595.1:c.995C>T	XP_011521897.1:p.Pro332Leu
XM_011523596.1:c.*31C>T	XP_011521898.1:n.*31C>T
XM_011523597.1:c.761C>T	XP_011521899.1:p.Pro254Leu
XM_011523598.1:c.758C>T	XP_011521900.1:p.Pro253Leu
XM_011523599.1:c.752C>T	XP_011521901.1:p.Pro251Leu
XM_011523600.1:c.614C>T	XP_011521902.1:p.Pro205Leu
XR_430033.2:n.2408C>T
XM_005256396.4:c.2249C>T	XP_005256453.1:p.Pro750Leu
XM_005256399.5:c.1016C>T	XP_005256456.1:p.Pro339Leu
XM_005256404.4:c.614C>T	XP_005256461.1:p.Pro205Leu
XM_006722291.4:c.1004C>T	XP_006722354.1:p.Pro335Leu
XM_006722292.3:c.614C>T	XP_006722355.1:p.Pro205Leu
XM_011523589.2:c.1955C>T	XP_011521891.1:p.Pro652Leu
XM_011523591.2:c.1940C>T	XP_011521893.1:p.Pro647Leu
XM_011523593.2:c.1547C>T	XP_011521895.1:p.Pro516Leu
XM_011523594.2:c.1028C>T	XP_011521896.1:p.Pro343Leu
XM_011523595.3:c.995C>T	XP_011521897.1:p.Pro332Leu
XM_011523597.2:c.761C>T	XP_011521899.1:p.Pro254Leu
XM_011523599.2:c.752C>T	XP_011521901.1:p.Pro251Leu
XM_011523600.3:c.614C>T	XP_011521902.1:p.Pro205Leu
XM_017024987.1:c.2111C>T	XP_016880476.1:p.Pro704Leu
XM_017024989.1:c.662C>T	XP_016880478.1:p.Pro221Leu
XM_017024990.2:c.614C>T	XP_016880479.1:p.Pro205Leu
XM_024450899.1:c.614C>T	XP_024306667.1:p.Pro205Leu
XM_024450900.1:c.614C>T	XP_024306668.1:p.Pro205Leu
XM_024450901.1:c.614C>T	XP_024306669.1:p.Pro205Leu
XM_024450902.1:c.614C>T	XP_024306670.1:p.Pro205Leu
XR_001752597.1:n.2408C>T
XR_001752598.1:n.2408C>T
XR_001752599.1:n.2408C>T
XR_001752600.1:n.2326C>T
NM_005993.5:c.2300C>T MANE Select	NP_005984.3:p.Pro767Leu