Canonical Allele Identifier: CA349494184

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592783T>C , CM000664.2:g.178592783T>C GRCh38
NC_000002.11:g.179457510T>C , CM000664.1:g.179457510T>C GRCh37
NC_000002.10:g.179165756T>C NCBI36
NG_011618.3:g.243020A>G , LRG_391:g.243020A>G
NG_051363.1:g.74957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51632A>G (TTN) ENSP00000343764.6:p.Asp17211Gly
ENST00000342175.11:c.32717A>G (TTN) ENSP00000340554.6:p.Asp10906Gly
ENST00000359218.10:c.32516A>G (TTN) ENSP00000352154.5:p.Asp10839Gly
ENST00000342175.10:c.32717A>G (TTN) ENSP00000340554.6:p.Asp10906Gly
ENST00000342992.10:c.51632A>G (TTN) ENSP00000343764.6:p.Asp17211Gly
ENST00000359218.9:c.32516A>G (TTN) ENSP00000352154.5:p.Asp10839Gly
ENST00000460472.6:c.32141A>G (TTN) ENSP00000434586.1:p.Asp10714Gly
ENST00000589042.5:c.59336A>G (TTN) MANE Select ENSP00000467141.1:p.Asp19779Gly
ENST00000591111.5:c.54413A>G (TTN) ENSP00000465570.1:p.Asp18138Gly
ENST00000615779.4:c.54413A>G (TTN) ENSP00000483597.1:p.Asp18138Gly
NM_001256850.1:c.54413A>G (TTN) NP_001243779.1:p.Asp18138Gly
NM_001267550.2:c.59336A>G (TTN) MANE Select NP_001254479.2:p.Asp19779Gly
NM_003319.4:c.32141A>G (TTN) NP_003310.4:p.Asp10714Gly
NM_133378.4:c.51632A>G (TTN) NP_596869.4:p.Asp17211Gly
NM_133432.3:c.32516A>G (TTN) NP_597676.3:p.Asp10839Gly
NM_133437.4:c.32717A>G (TTN) NP_597681.4:p.Asp10906Gly
NR_038271.1:n.597-4813T>C (TTN-AS1)
NR_038272.1:n.3364+1469T>C (TTN-AS1)
XM_011511729.1:c.58433A>G (TTN) XP_011510031.1:p.Asp19478Gly
XM_011511730.1:c.32327A>G (TTN) XP_011510032.1:p.Asp10776Gly
XM_011511731.1:c.32186A>G (TTN) XP_011510033.1:p.Asp10729Gly
XM_017004819.1:c.58229A>G (TTN) XP_016860308.1:p.Asp19410Gly
XM_017004820.1:c.53627A>G (TTN) XP_016860309.1:p.Asp17876Gly
XM_017004821.1:c.53624A>G (TTN) XP_016860310.1:p.Asp17875Gly
XM_017004822.1:c.50666A>G (TTN) XP_016860311.1:p.Asp16889Gly
XM_017004823.1:c.32282A>G (TTN) XP_016860312.1:p.Asp10761Gly
XM_024453094.1:c.53777A>G (TTN) XP_024308862.1:p.Asp17926Gly
XM_024453095.1:c.53774A>G (TTN) XP_024308863.1:p.Asp17925Gly
XM_024453096.1:c.53207A>G (TTN) XP_024308864.1:p.Asp17736Gly
XM_024453097.1:c.50549A>G (TTN) XP_024308865.1:p.Asp16850Gly
XM_024453098.1:c.50468A>G (TTN) XP_024308866.1:p.Asp16823Gly
XM_024453099.1:c.32231A>G (TTN) XP_024308867.1:p.Asp10744Gly
XM_024453100.1:c.22085A>G (TTN) XP_024308868.1:p.Asp7362Gly