Canonical Allele Identifier: CA349411538

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532115A>G , CM000664.2:g.178532115A>G GRCh38
NC_000002.11:g.179396842A>G , CM000664.1:g.179396842A>G GRCh37
NC_000002.10:g.179105088A>G NCBI36
NG_011618.3:g.303688T>C , LRG_391:g.303688T>C
NG_051363.1:g.14289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96796T>C (TTN) ENSP00000343764.6:p.Ser32266Pro
ENST00000342175.11:c.77881T>C (TTN) ENSP00000340554.6:p.Ser25961Pro
ENST00000359218.10:c.77680T>C (TTN) ENSP00000352154.5:p.Ser25894Pro
ENST00000342175.10:c.77881T>C (TTN) ENSP00000340554.6:p.Ser25961Pro
ENST00000342992.10:c.96796T>C (TTN) ENSP00000343764.6:p.Ser32266Pro
ENST00000359218.9:c.77680T>C (TTN) ENSP00000352154.5:p.Ser25894Pro
ENST00000460472.6:c.77305T>C (TTN) ENSP00000434586.1:p.Ser25769Pro
ENST00000589042.5:c.104500T>C (TTN) MANE Select ENSP00000467141.1:p.Ser34834Pro
ENST00000591111.5:c.99577T>C (TTN) ENSP00000465570.1:p.Ser33193Pro
ENST00000615779.4:c.99577T>C (TTN) ENSP00000483597.1:p.Ser33193Pro
NM_001256850.1:c.99577T>C (TTN) NP_001243779.1:p.Ser33193Pro
NM_001267550.2:c.104500T>C (TTN) MANE Select NP_001254479.2:p.Ser34834Pro
NM_003319.4:c.77305T>C (TTN) NP_003310.4:p.Ser25769Pro
NM_133378.4:c.96796T>C (TTN) NP_596869.4:p.Ser32266Pro
NM_133432.3:c.77680T>C (TTN) NP_597676.3:p.Ser25894Pro
NM_133437.4:c.77881T>C (TTN) NP_597681.4:p.Ser25961Pro
NR_038271.1:n.446+8479A>G (TTN-AS1)
NR_038272.1:n.220-3617A>G (TTN-AS1)
XM_011511729.1:c.103597T>C (TTN) XP_011510031.1:p.Ser34533Pro
XM_011511730.1:c.77491T>C (TTN) XP_011510032.1:p.Ser25831Pro
XM_011511731.1:c.77350T>C (TTN) XP_011510033.1:p.Ser25784Pro
XM_017004819.1:c.103393T>C (TTN) XP_016860308.1:p.Ser34465Pro
XM_017004820.1:c.98791T>C (TTN) XP_016860309.1:p.Ser32931Pro
XM_017004821.1:c.98788T>C (TTN) XP_016860310.1:p.Ser32930Pro
XM_017004822.1:c.95830T>C (TTN) XP_016860311.1:p.Ser31944Pro
XM_017004823.1:c.77446T>C (TTN) XP_016860312.1:p.Ser25816Pro
XM_024453094.1:c.98941T>C (TTN) XP_024308862.1:p.Ser32981Pro
XM_024453095.1:c.98938T>C (TTN) XP_024308863.1:p.Ser32980Pro
XM_024453096.1:c.98371T>C (TTN) XP_024308864.1:p.Ser32791Pro
XM_024453097.1:c.95713T>C (TTN) XP_024308865.1:p.Ser31905Pro
XM_024453098.1:c.95632T>C (TTN) XP_024308866.1:p.Ser31878Pro
XM_024453099.1:c.77395T>C (TTN) XP_024308867.1:p.Ser25799Pro
XM_024453100.1:c.67249T>C (TTN) XP_024308868.1:p.Ser22417Pro