Canonical Allele Identifier: CA349411476

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532091A>G , CM000664.2:g.178532091A>G GRCh38
NC_000002.11:g.179396818A>G , CM000664.1:g.179396818A>G GRCh37
NC_000002.10:g.179105064A>G NCBI36
NG_011618.3:g.303712T>C , LRG_391:g.303712T>C
NG_051363.1:g.14265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96820T>C (TTN) ENSP00000343764.6:p.Ser32274Pro
ENST00000342175.11:c.77905T>C (TTN) ENSP00000340554.6:p.Ser25969Pro
ENST00000359218.10:c.77704T>C (TTN) ENSP00000352154.5:p.Ser25902Pro
ENST00000342175.10:c.77905T>C (TTN) ENSP00000340554.6:p.Ser25969Pro
ENST00000342992.10:c.96820T>C (TTN) ENSP00000343764.6:p.Ser32274Pro
ENST00000359218.9:c.77704T>C (TTN) ENSP00000352154.5:p.Ser25902Pro
ENST00000460472.6:c.77329T>C (TTN) ENSP00000434586.1:p.Ser25777Pro
ENST00000589042.5:c.104524T>C (TTN) MANE Select ENSP00000467141.1:p.Ser34842Pro
ENST00000591111.5:c.99601T>C (TTN) ENSP00000465570.1:p.Ser33201Pro
ENST00000615779.4:c.99601T>C (TTN) ENSP00000483597.1:p.Ser33201Pro
NM_001256850.1:c.99601T>C (TTN) NP_001243779.1:p.Ser33201Pro
NM_001267550.2:c.104524T>C (TTN) MANE Select NP_001254479.2:p.Ser34842Pro
NM_003319.4:c.77329T>C (TTN) NP_003310.4:p.Ser25777Pro
NM_133378.4:c.96820T>C (TTN) NP_596869.4:p.Ser32274Pro
NM_133432.3:c.77704T>C (TTN) NP_597676.3:p.Ser25902Pro
NM_133437.4:c.77905T>C (TTN) NP_597681.4:p.Ser25969Pro
NR_038271.1:n.446+8455A>G (TTN-AS1)
NR_038272.1:n.220-3641A>G (TTN-AS1)
XM_011511729.1:c.103621T>C (TTN) XP_011510031.1:p.Ser34541Pro
XM_011511730.1:c.77515T>C (TTN) XP_011510032.1:p.Ser25839Pro
XM_011511731.1:c.77374T>C (TTN) XP_011510033.1:p.Ser25792Pro
XM_017004819.1:c.103417T>C (TTN) XP_016860308.1:p.Ser34473Pro
XM_017004820.1:c.98815T>C (TTN) XP_016860309.1:p.Ser32939Pro
XM_017004821.1:c.98812T>C (TTN) XP_016860310.1:p.Ser32938Pro
XM_017004822.1:c.95854T>C (TTN) XP_016860311.1:p.Ser31952Pro
XM_017004823.1:c.77470T>C (TTN) XP_016860312.1:p.Ser25824Pro
XM_024453094.1:c.98965T>C (TTN) XP_024308862.1:p.Ser32989Pro
XM_024453095.1:c.98962T>C (TTN) XP_024308863.1:p.Ser32988Pro
XM_024453096.1:c.98395T>C (TTN) XP_024308864.1:p.Ser32799Pro
XM_024453097.1:c.95737T>C (TTN) XP_024308865.1:p.Ser31913Pro
XM_024453098.1:c.95656T>C (TTN) XP_024308866.1:p.Ser31886Pro
XM_024453099.1:c.77419T>C (TTN) XP_024308867.1:p.Ser25807Pro
XM_024453100.1:c.67273T>C (TTN) XP_024308868.1:p.Ser22425Pro