Canonical Allele Identifier: CA349406937

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530471T>G , CM000664.2:g.178530471T>G GRCh38
NC_000002.11:g.179395198T>G , CM000664.1:g.179395198T>G GRCh37
NC_000002.10:g.179103444T>G NCBI36
NG_011618.3:g.305332A>C , LRG_391:g.305332A>C
NG_051363.1:g.12645T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98440A>C (TTN) ENSP00000343764.6:p.Ile32814Leu
ENST00000342175.11:c.79525A>C (TTN) ENSP00000340554.6:p.Ile26509Leu
ENST00000359218.10:c.79324A>C (TTN) ENSP00000352154.5:p.Ile26442Leu
ENST00000342175.10:c.79525A>C (TTN) ENSP00000340554.6:p.Ile26509Leu
ENST00000342992.10:c.98440A>C (TTN) ENSP00000343764.6:p.Ile32814Leu
ENST00000359218.9:c.79324A>C (TTN) ENSP00000352154.5:p.Ile26442Leu
ENST00000460472.6:c.78949A>C (TTN) ENSP00000434586.1:p.Ile26317Leu
ENST00000589042.5:c.106144A>C (TTN) MANE Select ENSP00000467141.1:p.Ile35382Leu
ENST00000591111.5:c.101221A>C (TTN) ENSP00000465570.1:p.Ile33741Leu
ENST00000615779.4:c.101221A>C (TTN) ENSP00000483597.1:p.Ile33741Leu
NM_001256850.1:c.101221A>C (TTN) NP_001243779.1:p.Ile33741Leu
NM_001267550.2:c.106144A>C (TTN) MANE Select NP_001254479.2:p.Ile35382Leu
NM_003319.4:c.78949A>C (TTN) NP_003310.4:p.Ile26317Leu
NM_133378.4:c.98440A>C (TTN) NP_596869.4:p.Ile32814Leu
NM_133432.3:c.79324A>C (TTN) NP_597676.3:p.Ile26442Leu
NM_133437.4:c.79525A>C (TTN) NP_597681.4:p.Ile26509Leu
NR_038271.1:n.446+6835T>G (TTN-AS1)
NR_038272.1:n.220-5261T>G (TTN-AS1)
XM_011511729.1:c.105241A>C (TTN) XP_011510031.1:p.Ile35081Leu
XM_011511730.1:c.79135A>C (TTN) XP_011510032.1:p.Ile26379Leu
XM_011511731.1:c.78994A>C (TTN) XP_011510033.1:p.Ile26332Leu
XM_017004819.1:c.105037A>C (TTN) XP_016860308.1:p.Ile35013Leu
XM_017004820.1:c.100435A>C (TTN) XP_016860309.1:p.Ile33479Leu
XM_017004821.1:c.100432A>C (TTN) XP_016860310.1:p.Ile33478Leu
XM_017004822.1:c.97474A>C (TTN) XP_016860311.1:p.Ile32492Leu
XM_017004823.1:c.79090A>C (TTN) XP_016860312.1:p.Ile26364Leu
XM_024453094.1:c.100585A>C (TTN) XP_024308862.1:p.Ile33529Leu
XM_024453095.1:c.100582A>C (TTN) XP_024308863.1:p.Ile33528Leu
XM_024453096.1:c.100015A>C (TTN) XP_024308864.1:p.Ile33339Leu
XM_024453097.1:c.97357A>C (TTN) XP_024308865.1:p.Ile32453Leu
XM_024453098.1:c.97276A>C (TTN) XP_024308866.1:p.Ile32426Leu
XM_024453099.1:c.79039A>C (TTN) XP_024308867.1:p.Ile26347Leu
XM_024453100.1:c.68893A>C (TTN) XP_024308868.1:p.Ile22965Leu