Canonical Allele Identifier: CA349420561

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535108C>G , CM000664.2:g.178535108C>G GRCh38
NC_000002.11:g.179399835C>G , CM000664.1:g.179399835C>G GRCh37
NC_000002.10:g.179108081C>G NCBI36
NG_011618.3:g.300695G>C , LRG_391:g.300695G>C
NG_051363.1:g.17282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.93803G>C (TTN) ENSP00000343764.6:p.Cys31268Ser
ENST00000342175.11:c.74888G>C (TTN) ENSP00000340554.6:p.Cys24963Ser
ENST00000359218.10:c.74687G>C (TTN) ENSP00000352154.5:p.Cys24896Ser
ENST00000342175.10:c.74888G>C (TTN) ENSP00000340554.6:p.Cys24963Ser
ENST00000342992.10:c.93803G>C (TTN) ENSP00000343764.6:p.Cys31268Ser
ENST00000359218.9:c.74687G>C (TTN) ENSP00000352154.5:p.Cys24896Ser
ENST00000460472.6:c.74312G>C (TTN) ENSP00000434586.1:p.Cys24771Ser
ENST00000589042.5:c.101507G>C (TTN) MANE Select ENSP00000467141.1:p.Cys33836Ser
ENST00000591111.5:c.96584G>C (TTN) ENSP00000465570.1:p.Cys32195Ser
ENST00000615779.4:c.96584G>C (TTN) ENSP00000483597.1:p.Cys32195Ser
NM_001256850.1:c.96584G>C (TTN) NP_001243779.1:p.Cys32195Ser
NM_001267550.2:c.101507G>C (TTN) MANE Select NP_001254479.2:p.Cys33836Ser
NM_003319.4:c.74312G>C (TTN) NP_003310.4:p.Cys24771Ser
NM_133378.4:c.93803G>C (TTN) NP_596869.4:p.Cys31268Ser
NM_133432.3:c.74687G>C (TTN) NP_597676.3:p.Cys24896Ser
NM_133437.4:c.74888G>C (TTN) NP_597681.4:p.Cys24963Ser
NR_038271.1:n.446+11472C>G (TTN-AS1)
NR_038272.1:n.220-624C>G (TTN-AS1)
XM_011511729.1:c.100604G>C (TTN) XP_011510031.1:p.Cys33535Ser
XM_011511730.1:c.74498G>C (TTN) XP_011510032.1:p.Cys24833Ser
XM_011511731.1:c.74357G>C (TTN) XP_011510033.1:p.Cys24786Ser
XM_017004819.1:c.100400G>C (TTN) XP_016860308.1:p.Cys33467Ser
XM_017004820.1:c.95798G>C (TTN) XP_016860309.1:p.Cys31933Ser
XM_017004821.1:c.95795G>C (TTN) XP_016860310.1:p.Cys31932Ser
XM_017004822.1:c.92837G>C (TTN) XP_016860311.1:p.Cys30946Ser
XM_017004823.1:c.74453G>C (TTN) XP_016860312.1:p.Cys24818Ser
XM_024453094.1:c.95948G>C (TTN) XP_024308862.1:p.Cys31983Ser
XM_024453095.1:c.95945G>C (TTN) XP_024308863.1:p.Cys31982Ser
XM_024453096.1:c.95378G>C (TTN) XP_024308864.1:p.Cys31793Ser
XM_024453097.1:c.92720G>C (TTN) XP_024308865.1:p.Cys30907Ser
XM_024453098.1:c.92639G>C (TTN) XP_024308866.1:p.Cys30880Ser
XM_024453099.1:c.74402G>C (TTN) XP_024308867.1:p.Cys24801Ser
XM_024453100.1:c.64256G>C (TTN) XP_024308868.1:p.Cys21419Ser