Canonical Allele Identifier: CA349411667

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532151A>C , CM000664.2:g.178532151A>C GRCh38
NC_000002.11:g.179396878A>C , CM000664.1:g.179396878A>C GRCh37
NC_000002.10:g.179105124A>C NCBI36
NG_011618.3:g.303652T>G , LRG_391:g.303652T>G
NG_051363.1:g.14325A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96760T>G (TTN) ENSP00000343764.6:p.Ser32254Ala
ENST00000342175.11:c.77845T>G (TTN) ENSP00000340554.6:p.Ser25949Ala
ENST00000359218.10:c.77644T>G (TTN) ENSP00000352154.5:p.Ser25882Ala
ENST00000342175.10:c.77845T>G (TTN) ENSP00000340554.6:p.Ser25949Ala
ENST00000342992.10:c.96760T>G (TTN) ENSP00000343764.6:p.Ser32254Ala
ENST00000359218.9:c.77644T>G (TTN) ENSP00000352154.5:p.Ser25882Ala
ENST00000460472.6:c.77269T>G (TTN) ENSP00000434586.1:p.Ser25757Ala
ENST00000589042.5:c.104464T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34822Ala
ENST00000591111.5:c.99541T>G (TTN) ENSP00000465570.1:p.Ser33181Ala
ENST00000615779.4:c.99541T>G (TTN) ENSP00000483597.1:p.Ser33181Ala
NM_001256850.1:c.99541T>G (TTN) NP_001243779.1:p.Ser33181Ala
NM_001267550.2:c.104464T>G (TTN) MANE Select NP_001254479.2:p.Ser34822Ala
NM_003319.4:c.77269T>G (TTN) NP_003310.4:p.Ser25757Ala
NM_133378.4:c.96760T>G (TTN) NP_596869.4:p.Ser32254Ala
NM_133432.3:c.77644T>G (TTN) NP_597676.3:p.Ser25882Ala
NM_133437.4:c.77845T>G (TTN) NP_597681.4:p.Ser25949Ala
NR_038271.1:n.446+8515A>C (TTN-AS1)
NR_038272.1:n.220-3581A>C (TTN-AS1)
XM_011511729.1:c.103561T>G (TTN) XP_011510031.1:p.Ser34521Ala
XM_011511730.1:c.77455T>G (TTN) XP_011510032.1:p.Ser25819Ala
XM_011511731.1:c.77314T>G (TTN) XP_011510033.1:p.Ser25772Ala
XM_017004819.1:c.103357T>G (TTN) XP_016860308.1:p.Ser34453Ala
XM_017004820.1:c.98755T>G (TTN) XP_016860309.1:p.Ser32919Ala
XM_017004821.1:c.98752T>G (TTN) XP_016860310.1:p.Ser32918Ala
XM_017004822.1:c.95794T>G (TTN) XP_016860311.1:p.Ser31932Ala
XM_017004823.1:c.77410T>G (TTN) XP_016860312.1:p.Ser25804Ala
XM_024453094.1:c.98905T>G (TTN) XP_024308862.1:p.Ser32969Ala
XM_024453095.1:c.98902T>G (TTN) XP_024308863.1:p.Ser32968Ala
XM_024453096.1:c.98335T>G (TTN) XP_024308864.1:p.Ser32779Ala
XM_024453097.1:c.95677T>G (TTN) XP_024308865.1:p.Ser31893Ala
XM_024453098.1:c.95596T>G (TTN) XP_024308866.1:p.Ser31866Ala
XM_024453099.1:c.77359T>G (TTN) XP_024308867.1:p.Ser25787Ala
XM_024453100.1:c.67213T>G (TTN) XP_024308868.1:p.Ser22405Ala