Canonical Allele Identifier: CA349411934

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532265A>G , CM000664.2:g.178532265A>G GRCh38
NC_000002.11:g.179396992A>G , CM000664.1:g.179396992A>G GRCh37
NC_000002.10:g.179105238A>G NCBI36
NG_011618.3:g.303538T>C , LRG_391:g.303538T>C
NG_051363.1:g.14439A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96646T>C (TTN) ENSP00000343764.6:p.Ser32216Pro
ENST00000342175.11:c.77731T>C (TTN) ENSP00000340554.6:p.Ser25911Pro
ENST00000359218.10:c.77530T>C (TTN) ENSP00000352154.5:p.Ser25844Pro
ENST00000342175.10:c.77731T>C (TTN) ENSP00000340554.6:p.Ser25911Pro
ENST00000342992.10:c.96646T>C (TTN) ENSP00000343764.6:p.Ser32216Pro
ENST00000359218.9:c.77530T>C (TTN) ENSP00000352154.5:p.Ser25844Pro
ENST00000460472.6:c.77155T>C (TTN) ENSP00000434586.1:p.Ser25719Pro
ENST00000589042.5:c.104350T>C (TTN) MANE Select ENSP00000467141.1:p.Ser34784Pro
ENST00000591111.5:c.99427T>C (TTN) ENSP00000465570.1:p.Ser33143Pro
ENST00000615779.4:c.99427T>C (TTN) ENSP00000483597.1:p.Ser33143Pro
NM_001256850.1:c.99427T>C (TTN) NP_001243779.1:p.Ser33143Pro
NM_001267550.2:c.104350T>C (TTN) MANE Select NP_001254479.2:p.Ser34784Pro
NM_003319.4:c.77155T>C (TTN) NP_003310.4:p.Ser25719Pro
NM_133378.4:c.96646T>C (TTN) NP_596869.4:p.Ser32216Pro
NM_133432.3:c.77530T>C (TTN) NP_597676.3:p.Ser25844Pro
NM_133437.4:c.77731T>C (TTN) NP_597681.4:p.Ser25911Pro
NR_038271.1:n.446+8629A>G (TTN-AS1)
NR_038272.1:n.220-3467A>G (TTN-AS1)
XM_011511729.1:c.103447T>C (TTN) XP_011510031.1:p.Ser34483Pro
XM_011511730.1:c.77341T>C (TTN) XP_011510032.1:p.Ser25781Pro
XM_011511731.1:c.77200T>C (TTN) XP_011510033.1:p.Ser25734Pro
XM_017004819.1:c.103243T>C (TTN) XP_016860308.1:p.Ser34415Pro
XM_017004820.1:c.98641T>C (TTN) XP_016860309.1:p.Ser32881Pro
XM_017004821.1:c.98638T>C (TTN) XP_016860310.1:p.Ser32880Pro
XM_017004822.1:c.95680T>C (TTN) XP_016860311.1:p.Ser31894Pro
XM_017004823.1:c.77296T>C (TTN) XP_016860312.1:p.Ser25766Pro
XM_024453094.1:c.98791T>C (TTN) XP_024308862.1:p.Ser32931Pro
XM_024453095.1:c.98788T>C (TTN) XP_024308863.1:p.Ser32930Pro
XM_024453096.1:c.98221T>C (TTN) XP_024308864.1:p.Ser32741Pro
XM_024453097.1:c.95563T>C (TTN) XP_024308865.1:p.Ser31855Pro
XM_024453098.1:c.95482T>C (TTN) XP_024308866.1:p.Ser31828Pro
XM_024453099.1:c.77245T>C (TTN) XP_024308867.1:p.Ser25749Pro
XM_024453100.1:c.67099T>C (TTN) XP_024308868.1:p.Ser22367Pro