Canonical Allele Identifier: CA349407223

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530603C>G , CM000664.2:g.178530603C>G GRCh38
NC_000002.11:g.179395330C>G , CM000664.1:g.179395330C>G GRCh37
NC_000002.10:g.179103576C>G NCBI36
NG_011618.3:g.305200G>C , LRG_391:g.305200G>C
NG_051363.1:g.12777C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98308G>C (TTN) ENSP00000343764.6:p.Ala32770Pro
ENST00000342175.11:c.79393G>C (TTN) ENSP00000340554.6:p.Ala26465Pro
ENST00000359218.10:c.79192G>C (TTN) ENSP00000352154.5:p.Ala26398Pro
ENST00000342175.10:c.79393G>C (TTN) ENSP00000340554.6:p.Ala26465Pro
ENST00000342992.10:c.98308G>C (TTN) ENSP00000343764.6:p.Ala32770Pro
ENST00000359218.9:c.79192G>C (TTN) ENSP00000352154.5:p.Ala26398Pro
ENST00000460472.6:c.78817G>C (TTN) ENSP00000434586.1:p.Ala26273Pro
ENST00000589042.5:c.106012G>C (TTN) MANE Select ENSP00000467141.1:p.Ala35338Pro
ENST00000591111.5:c.101089G>C (TTN) ENSP00000465570.1:p.Ala33697Pro
ENST00000615779.4:c.101089G>C (TTN) ENSP00000483597.1:p.Ala33697Pro
NM_001256850.1:c.101089G>C (TTN) NP_001243779.1:p.Ala33697Pro
NM_001267550.2:c.106012G>C (TTN) MANE Select NP_001254479.2:p.Ala35338Pro
NM_003319.4:c.78817G>C (TTN) NP_003310.4:p.Ala26273Pro
NM_133378.4:c.98308G>C (TTN) NP_596869.4:p.Ala32770Pro
NM_133432.3:c.79192G>C (TTN) NP_597676.3:p.Ala26398Pro
NM_133437.4:c.79393G>C (TTN) NP_597681.4:p.Ala26465Pro
NR_038271.1:n.446+6967C>G (TTN-AS1)
NR_038272.1:n.220-5129C>G (TTN-AS1)
XM_011511729.1:c.105109G>C (TTN) XP_011510031.1:p.Ala35037Pro
XM_011511730.1:c.79003G>C (TTN) XP_011510032.1:p.Ala26335Pro
XM_011511731.1:c.78862G>C (TTN) XP_011510033.1:p.Ala26288Pro
XM_017004819.1:c.104905G>C (TTN) XP_016860308.1:p.Ala34969Pro
XM_017004820.1:c.100303G>C (TTN) XP_016860309.1:p.Ala33435Pro
XM_017004821.1:c.100300G>C (TTN) XP_016860310.1:p.Ala33434Pro
XM_017004822.1:c.97342G>C (TTN) XP_016860311.1:p.Ala32448Pro
XM_017004823.1:c.78958G>C (TTN) XP_016860312.1:p.Ala26320Pro
XM_024453094.1:c.100453G>C (TTN) XP_024308862.1:p.Ala33485Pro
XM_024453095.1:c.100450G>C (TTN) XP_024308863.1:p.Ala33484Pro
XM_024453096.1:c.99883G>C (TTN) XP_024308864.1:p.Ala33295Pro
XM_024453097.1:c.97225G>C (TTN) XP_024308865.1:p.Ala32409Pro
XM_024453098.1:c.97144G>C (TTN) XP_024308866.1:p.Ala32382Pro
XM_024453099.1:c.78907G>C (TTN) XP_024308867.1:p.Ala26303Pro
XM_024453100.1:c.68761G>C (TTN) XP_024308868.1:p.Ala22921Pro