Canonical Allele Identifier: CA349400205

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527607G>C , CM000664.2:g.178527607G>C GRCh38
NC_000002.11:g.179392334G>C , CM000664.1:g.179392334G>C GRCh37
NC_000002.10:g.179100580G>C NCBI36
NG_011618.3:g.308196C>G , LRG_391:g.308196C>G
NG_051363.1:g.9781G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99815C>G (TTN) ENSP00000343764.6:p.Ala33272Gly
ENST00000342175.11:c.80900C>G (TTN) ENSP00000340554.6:p.Ala26967Gly
ENST00000359218.10:c.80699C>G (TTN) ENSP00000352154.5:p.Ala26900Gly
ENST00000342175.10:c.80900C>G (TTN) ENSP00000340554.6:p.Ala26967Gly
ENST00000342992.10:c.99815C>G (TTN) ENSP00000343764.6:p.Ala33272Gly
ENST00000359218.9:c.80699C>G (TTN) ENSP00000352154.5:p.Ala26900Gly
ENST00000460472.6:c.80324C>G (TTN) ENSP00000434586.1:p.Ala26775Gly
ENST00000589042.5:c.107519C>G (TTN) MANE Select ENSP00000467141.1:p.Ala35840Gly
ENST00000591111.5:c.102596C>G (TTN) ENSP00000465570.1:p.Ala34199Gly
ENST00000615779.4:c.102596C>G (TTN) ENSP00000483597.1:p.Ala34199Gly
NM_001256850.1:c.102596C>G (TTN) NP_001243779.1:p.Ala34199Gly
NM_001267550.2:c.107519C>G (TTN) MANE Select NP_001254479.2:p.Ala35840Gly
NM_003319.4:c.80324C>G (TTN) NP_003310.4:p.Ala26775Gly
NM_133378.4:c.99815C>G (TTN) NP_596869.4:p.Ala33272Gly
NM_133432.3:c.80699C>G (TTN) NP_597676.3:p.Ala26900Gly
NM_133437.4:c.80900C>G (TTN) NP_597681.4:p.Ala26967Gly
NR_038271.1:n.446+3971G>C (TTN-AS1)
NR_038272.1:n.219+3971G>C (TTN-AS1)
XM_011511729.1:c.106616C>G (TTN) XP_011510031.1:p.Ala35539Gly
XM_011511730.1:c.80510C>G (TTN) XP_011510032.1:p.Ala26837Gly
XM_011511731.1:c.80369C>G (TTN) XP_011510033.1:p.Ala26790Gly
XM_017004819.1:c.106412C>G (TTN) XP_016860308.1:p.Ala35471Gly
XM_017004820.1:c.101810C>G (TTN) XP_016860309.1:p.Ala33937Gly
XM_017004821.1:c.101807C>G (TTN) XP_016860310.1:p.Ala33936Gly
XM_017004822.1:c.98849C>G (TTN) XP_016860311.1:p.Ala32950Gly
XM_017004823.1:c.80465C>G (TTN) XP_016860312.1:p.Ala26822Gly
XM_024453094.1:c.101960C>G (TTN) XP_024308862.1:p.Ala33987Gly
XM_024453095.1:c.101957C>G (TTN) XP_024308863.1:p.Ala33986Gly
XM_024453096.1:c.101390C>G (TTN) XP_024308864.1:p.Ala33797Gly
XM_024453097.1:c.98732C>G (TTN) XP_024308865.1:p.Ala32911Gly
XM_024453098.1:c.98651C>G (TTN) XP_024308866.1:p.Ala32884Gly
XM_024453099.1:c.80414C>G (TTN) XP_024308867.1:p.Ala26805Gly
XM_024453100.1:c.70268C>G (TTN) XP_024308868.1:p.Ala23423Gly