Canonical Allele Identifier: CA349405329

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530064A>G , CM000664.2:g.178530064A>G GRCh38
NC_000002.11:g.179394791A>G , CM000664.1:g.179394791A>G GRCh37
NC_000002.10:g.179103037A>G NCBI36
NG_011618.3:g.305739T>C , LRG_391:g.305739T>C
NG_051363.1:g.12238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98723T>C (TTN) ENSP00000343764.6:p.Phe32908Ser
ENST00000342175.11:c.79808T>C (TTN) ENSP00000340554.6:p.Phe26603Ser
ENST00000359218.10:c.79607T>C (TTN) ENSP00000352154.5:p.Phe26536Ser
ENST00000342175.10:c.79808T>C (TTN) ENSP00000340554.6:p.Phe26603Ser
ENST00000342992.10:c.98723T>C (TTN) ENSP00000343764.6:p.Phe32908Ser
ENST00000359218.9:c.79607T>C (TTN) ENSP00000352154.5:p.Phe26536Ser
ENST00000460472.6:c.79232T>C (TTN) ENSP00000434586.1:p.Phe26411Ser
ENST00000589042.5:c.106427T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35476Ser
ENST00000591111.5:c.101504T>C (TTN) ENSP00000465570.1:p.Phe33835Ser
ENST00000615779.4:c.101504T>C (TTN) ENSP00000483597.1:p.Phe33835Ser
NM_001256850.1:c.101504T>C (TTN) NP_001243779.1:p.Phe33835Ser
NM_001267550.2:c.106427T>C (TTN) MANE Select NP_001254479.2:p.Phe35476Ser
NM_003319.4:c.79232T>C (TTN) NP_003310.4:p.Phe26411Ser
NM_133378.4:c.98723T>C (TTN) NP_596869.4:p.Phe32908Ser
NM_133432.3:c.79607T>C (TTN) NP_597676.3:p.Phe26536Ser
NM_133437.4:c.79808T>C (TTN) NP_597681.4:p.Phe26603Ser
NR_038271.1:n.446+6428A>G (TTN-AS1)
NR_038272.1:n.220-5668A>G (TTN-AS1)
XM_011511729.1:c.105524T>C (TTN) XP_011510031.1:p.Phe35175Ser
XM_011511730.1:c.79418T>C (TTN) XP_011510032.1:p.Phe26473Ser
XM_011511731.1:c.79277T>C (TTN) XP_011510033.1:p.Phe26426Ser
XM_017004819.1:c.105320T>C (TTN) XP_016860308.1:p.Phe35107Ser
XM_017004820.1:c.100718T>C (TTN) XP_016860309.1:p.Phe33573Ser
XM_017004821.1:c.100715T>C (TTN) XP_016860310.1:p.Phe33572Ser
XM_017004822.1:c.97757T>C (TTN) XP_016860311.1:p.Phe32586Ser
XM_017004823.1:c.79373T>C (TTN) XP_016860312.1:p.Phe26458Ser
XM_024453094.1:c.100868T>C (TTN) XP_024308862.1:p.Phe33623Ser
XM_024453095.1:c.100865T>C (TTN) XP_024308863.1:p.Phe33622Ser
XM_024453096.1:c.100298T>C (TTN) XP_024308864.1:p.Phe33433Ser
XM_024453097.1:c.97640T>C (TTN) XP_024308865.1:p.Phe32547Ser
XM_024453098.1:c.97559T>C (TTN) XP_024308866.1:p.Phe32520Ser
XM_024453099.1:c.79322T>C (TTN) XP_024308867.1:p.Phe26441Ser
XM_024453100.1:c.69176T>C (TTN) XP_024308868.1:p.Phe23059Ser