Canonical Allele Identifier: CA401633561

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925023-T-C
• MyVariant Identifiers: chr17:g.80882899T>C (hg19) ; chr17:g.82925023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925023T>C , CM000679.2:g.82925023T>C	GRCh38
NC_000017.10:g.80882899T>C , CM000679.1:g.80882899T>C	GRCh37
NC_000017.9:g.78476188T>C	NCBI36
NG_011721.1:g.177960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1553T>C
ENST00000576677.6:n.1474T>C
ENST00000681983.1:n.2481T>C
ENST00000682099.1:n.1242T>C
ENST00000682213.1:c.*316T>C	ENSP00000508166.1:n.*316T>C
ENST00000682315.1:c.659T>C	ENSP00000507232.1:p.Leu220Pro
ENST00000682479.1:c.2435T>C	ENSP00000508214.1:p.Leu812Pro
ENST00000682610.1:n.1585T>C
ENST00000682654.1:c.*316T>C	ENSP00000507412.1:n.*316T>C
ENST00000682722.1:c.2294T>C	ENSP00000508364.1:p.Leu765Pro
ENST00000683041.1:c.*316T>C	ENSP00000506994.1:n.*316T>C
ENST00000683184.1:c.*1998T>C	ENSP00000507757.1:n.*1998T>C
ENST00000683282.1:c.2261T>C	ENSP00000506913.1:p.Leu754Pro
ENST00000683444.1:c.*1922T>C	ENSP00000507553.1:n.*1922T>C
ENST00000683584.1:n.1168T>C
ENST00000683821.1:c.659T>C	ENSP00000507651.1:p.Leu220Pro
ENST00000683839.1:n.1799T>C
ENST00000684000.1:c.2429T>C	ENSP00000506795.1:p.Leu810Pro
ENST00000684188.1:c.2156T>C	ENSP00000507153.1:p.Leu719Pro
ENST00000684349.1:c.2531T>C	ENSP00000508067.1:p.Leu844Pro
ENST00000684361.1:c.2345T>C	ENSP00000507364.1:p.Leu782Pro
ENST00000684408.1:c.1988T>C	ENSP00000506837.1:p.Leu663Pro
ENST00000684429.1:c.2273T>C	ENSP00000507224.1:p.Leu758Pro
ENST00000684464.1:c.2438T>C	ENSP00000508333.1:p.Leu813Pro
ENST00000684544.1:c.2264T>C	ENSP00000507337.1:p.Leu755Pro
ENST00000684559.1:n.1100T>C
ENST00000684760.1:c.2612T>C	ENSP00000507696.1:p.Leu871Pro
ENST00000684776.1:c.*828T>C	ENSP00000507861.1:n.*828T>C
ENST00000355528.9:c.2345T>C MANE Select	ENSP00000347719.4:p.Leu782Pro
ENST00000355528.8:c.2345T>C	ENSP00000347719.4:p.Leu782Pro
ENST00000539345.6:c.2345T>C	ENSP00000440671.2:p.Leu782Pro
ENST00000571618.5:n.523T>C
ENST00000571796.5:n.1003T>C
ENST00000574422.1:c.659T>C	ENSP00000458599.1:p.Leu220Pro
ENST00000574818.5:n.403T>C
ENST00000574886.1:n.729T>C
ENST00000574975.5:c.722T>C	ENSP00000461680.1:p.Leu241Pro
ENST00000576760.5:c.659T>C	ENSP00000460949.1:p.Leu220Pro
NM_005993.4:c.2345T>C	NP_005984.3:p.Leu782Pro
XM_005256396.3:c.2294T>C	XP_005256453.1:p.Leu765Pro
XM_005256399.3:c.1061T>C	XP_005256456.1:p.Leu354Pro
XM_005256400.3:c.659T>C	XP_005256457.1:p.Leu220Pro
XM_005256401.3:c.659T>C	XP_005256458.1:p.Leu220Pro
XM_005256402.3:c.659T>C	XP_005256459.1:p.Leu220Pro
XM_005256403.3:c.659T>C	XP_005256460.1:p.Leu220Pro
XM_005256404.3:c.659T>C	XP_005256461.1:p.Leu220Pro
XM_006722290.2:c.2264T>C	XP_006722353.1:p.Leu755Pro
XM_006722291.2:c.1049T>C	XP_006722354.1:p.Leu350Pro
XM_006722292.2:c.659T>C	XP_006722355.1:p.Leu220Pro
XM_011523589.1:c.2000T>C	XP_011521891.1:p.Leu667Pro
XM_011523590.1:c.1988T>C	XP_011521892.1:p.Leu663Pro
XM_011523591.1:c.1985T>C	XP_011521893.1:p.Leu662Pro
XM_011523592.1:c.1898T>C	XP_011521894.1:p.Leu633Pro
XM_011523593.1:c.1592T>C	XP_011521895.1:p.Leu531Pro
XM_011523594.1:c.1073T>C	XP_011521896.1:p.Leu358Pro
XM_011523595.1:c.1040T>C	XP_011521897.1:p.Leu347Pro
XM_011523596.1:c.*76T>C	XP_011521898.1:n.*76T>C
XM_011523597.1:c.806T>C	XP_011521899.1:p.Leu269Pro
XM_011523598.1:c.803T>C	XP_011521900.1:p.Leu268Pro
XM_011523599.1:c.797T>C	XP_011521901.1:p.Leu266Pro
XM_011523600.1:c.659T>C	XP_011521902.1:p.Leu220Pro
XR_430033.2:n.2453T>C
XM_005256396.4:c.2294T>C	XP_005256453.1:p.Leu765Pro
XM_005256399.5:c.1061T>C	XP_005256456.1:p.Leu354Pro
XM_005256404.4:c.659T>C	XP_005256461.1:p.Leu220Pro
XM_006722291.4:c.1049T>C	XP_006722354.1:p.Leu350Pro
XM_006722292.3:c.659T>C	XP_006722355.1:p.Leu220Pro
XM_011523589.2:c.2000T>C	XP_011521891.1:p.Leu667Pro
XM_011523591.2:c.1985T>C	XP_011521893.1:p.Leu662Pro
XM_011523593.2:c.1592T>C	XP_011521895.1:p.Leu531Pro
XM_011523594.2:c.1073T>C	XP_011521896.1:p.Leu358Pro
XM_011523595.3:c.1040T>C	XP_011521897.1:p.Leu347Pro
XM_011523597.2:c.806T>C	XP_011521899.1:p.Leu269Pro
XM_011523599.2:c.797T>C	XP_011521901.1:p.Leu266Pro
XM_011523600.3:c.659T>C	XP_011521902.1:p.Leu220Pro
XM_017024987.1:c.2156T>C	XP_016880476.1:p.Leu719Pro
XM_017024989.1:c.707T>C	XP_016880478.1:p.Leu236Pro
XM_017024990.2:c.659T>C	XP_016880479.1:p.Leu220Pro
XM_024450899.1:c.659T>C	XP_024306667.1:p.Leu220Pro
XM_024450900.1:c.659T>C	XP_024306668.1:p.Leu220Pro
XM_024450901.1:c.659T>C	XP_024306669.1:p.Leu220Pro
XM_024450902.1:c.659T>C	XP_024306670.1:p.Leu220Pro
XR_001752597.1:n.2453T>C
XR_001752598.1:n.2453T>C
XR_001752599.1:n.2453T>C
XR_001752600.1:n.2371T>C
NM_005993.5:c.2345T>C MANE Select	NP_005984.3:p.Leu782Pro