Canonical Allele Identifier: CA349405299

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530059C>G , CM000664.2:g.178530059C>G GRCh38
NC_000002.11:g.179394786C>G , CM000664.1:g.179394786C>G GRCh37
NC_000002.10:g.179103032C>G NCBI36
NG_011618.3:g.305744G>C , LRG_391:g.305744G>C
NG_051363.1:g.12233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98728G>C (TTN) ENSP00000343764.6:p.Glu32910Gln
ENST00000342175.11:c.79813G>C (TTN) ENSP00000340554.6:p.Glu26605Gln
ENST00000359218.10:c.79612G>C (TTN) ENSP00000352154.5:p.Glu26538Gln
ENST00000342175.10:c.79813G>C (TTN) ENSP00000340554.6:p.Glu26605Gln
ENST00000342992.10:c.98728G>C (TTN) ENSP00000343764.6:p.Glu32910Gln
ENST00000359218.9:c.79612G>C (TTN) ENSP00000352154.5:p.Glu26538Gln
ENST00000460472.6:c.79237G>C (TTN) ENSP00000434586.1:p.Glu26413Gln
ENST00000589042.5:c.106432G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35478Gln
ENST00000591111.5:c.101509G>C (TTN) ENSP00000465570.1:p.Glu33837Gln
ENST00000615779.4:c.101509G>C (TTN) ENSP00000483597.1:p.Glu33837Gln
NM_001256850.1:c.101509G>C (TTN) NP_001243779.1:p.Glu33837Gln
NM_001267550.2:c.106432G>C (TTN) MANE Select NP_001254479.2:p.Glu35478Gln
NM_003319.4:c.79237G>C (TTN) NP_003310.4:p.Glu26413Gln
NM_133378.4:c.98728G>C (TTN) NP_596869.4:p.Glu32910Gln
NM_133432.3:c.79612G>C (TTN) NP_597676.3:p.Glu26538Gln
NM_133437.4:c.79813G>C (TTN) NP_597681.4:p.Glu26605Gln
NR_038271.1:n.446+6423C>G (TTN-AS1)
NR_038272.1:n.220-5673C>G (TTN-AS1)
XM_011511729.1:c.105529G>C (TTN) XP_011510031.1:p.Glu35177Gln
XM_011511730.1:c.79423G>C (TTN) XP_011510032.1:p.Glu26475Gln
XM_011511731.1:c.79282G>C (TTN) XP_011510033.1:p.Glu26428Gln
XM_017004819.1:c.105325G>C (TTN) XP_016860308.1:p.Glu35109Gln
XM_017004820.1:c.100723G>C (TTN) XP_016860309.1:p.Glu33575Gln
XM_017004821.1:c.100720G>C (TTN) XP_016860310.1:p.Glu33574Gln
XM_017004822.1:c.97762G>C (TTN) XP_016860311.1:p.Glu32588Gln
XM_017004823.1:c.79378G>C (TTN) XP_016860312.1:p.Glu26460Gln
XM_024453094.1:c.100873G>C (TTN) XP_024308862.1:p.Glu33625Gln
XM_024453095.1:c.100870G>C (TTN) XP_024308863.1:p.Glu33624Gln
XM_024453096.1:c.100303G>C (TTN) XP_024308864.1:p.Glu33435Gln
XM_024453097.1:c.97645G>C (TTN) XP_024308865.1:p.Glu32549Gln
XM_024453098.1:c.97564G>C (TTN) XP_024308866.1:p.Glu32522Gln
XM_024453099.1:c.79327G>C (TTN) XP_024308867.1:p.Glu26443Gln
XM_024453100.1:c.69181G>C (TTN) XP_024308868.1:p.Glu23061Gln