Canonical Allele Identifier: CA349407301

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530635T>G , CM000664.2:g.178530635T>G GRCh38
NC_000002.11:g.179395362T>G , CM000664.1:g.179395362T>G GRCh37
NC_000002.10:g.179103608T>G NCBI36
NG_011618.3:g.305168A>C , LRG_391:g.305168A>C
NG_051363.1:g.12809T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98276A>C (TTN) ENSP00000343764.6:p.Lys32759Thr
ENST00000342175.11:c.79361A>C (TTN) ENSP00000340554.6:p.Lys26454Thr
ENST00000359218.10:c.79160A>C (TTN) ENSP00000352154.5:p.Lys26387Thr
ENST00000342175.10:c.79361A>C (TTN) ENSP00000340554.6:p.Lys26454Thr
ENST00000342992.10:c.98276A>C (TTN) ENSP00000343764.6:p.Lys32759Thr
ENST00000359218.9:c.79160A>C (TTN) ENSP00000352154.5:p.Lys26387Thr
ENST00000460472.6:c.78785A>C (TTN) ENSP00000434586.1:p.Lys26262Thr
ENST00000589042.5:c.105980A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35327Thr
ENST00000591111.5:c.101057A>C (TTN) ENSP00000465570.1:p.Lys33686Thr
ENST00000615779.4:c.101057A>C (TTN) ENSP00000483597.1:p.Lys33686Thr
NM_001256850.1:c.101057A>C (TTN) NP_001243779.1:p.Lys33686Thr
NM_001267550.2:c.105980A>C (TTN) MANE Select NP_001254479.2:p.Lys35327Thr
NM_003319.4:c.78785A>C (TTN) NP_003310.4:p.Lys26262Thr
NM_133378.4:c.98276A>C (TTN) NP_596869.4:p.Lys32759Thr
NM_133432.3:c.79160A>C (TTN) NP_597676.3:p.Lys26387Thr
NM_133437.4:c.79361A>C (TTN) NP_597681.4:p.Lys26454Thr
NR_038271.1:n.446+6999T>G (TTN-AS1)
NR_038272.1:n.220-5097T>G (TTN-AS1)
XM_011511729.1:c.105077A>C (TTN) XP_011510031.1:p.Lys35026Thr
XM_011511730.1:c.78971A>C (TTN) XP_011510032.1:p.Lys26324Thr
XM_011511731.1:c.78830A>C (TTN) XP_011510033.1:p.Lys26277Thr
XM_017004819.1:c.104873A>C (TTN) XP_016860308.1:p.Lys34958Thr
XM_017004820.1:c.100271A>C (TTN) XP_016860309.1:p.Lys33424Thr
XM_017004821.1:c.100268A>C (TTN) XP_016860310.1:p.Lys33423Thr
XM_017004822.1:c.97310A>C (TTN) XP_016860311.1:p.Lys32437Thr
XM_017004823.1:c.78926A>C (TTN) XP_016860312.1:p.Lys26309Thr
XM_024453094.1:c.100421A>C (TTN) XP_024308862.1:p.Lys33474Thr
XM_024453095.1:c.100418A>C (TTN) XP_024308863.1:p.Lys33473Thr
XM_024453096.1:c.99851A>C (TTN) XP_024308864.1:p.Lys33284Thr
XM_024453097.1:c.97193A>C (TTN) XP_024308865.1:p.Lys32398Thr
XM_024453098.1:c.97112A>C (TTN) XP_024308866.1:p.Lys32371Thr
XM_024453099.1:c.78875A>C (TTN) XP_024308867.1:p.Lys26292Thr
XM_024453100.1:c.68729A>C (TTN) XP_024308868.1:p.Lys22910Thr