Canonical Allele Identifier: CA349411822

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532219G>T , CM000664.2:g.178532219G>T GRCh38
NC_000002.11:g.179396946G>T , CM000664.1:g.179396946G>T GRCh37
NC_000002.10:g.179105192G>T NCBI36
NG_011618.3:g.303584C>A , LRG_391:g.303584C>A
NG_051363.1:g.14393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96692C>A (TTN) ENSP00000343764.6:p.Ser32231Tyr
ENST00000342175.11:c.77777C>A (TTN) ENSP00000340554.6:p.Ser25926Tyr
ENST00000359218.10:c.77576C>A (TTN) ENSP00000352154.5:p.Ser25859Tyr
ENST00000342175.10:c.77777C>A (TTN) ENSP00000340554.6:p.Ser25926Tyr
ENST00000342992.10:c.96692C>A (TTN) ENSP00000343764.6:p.Ser32231Tyr
ENST00000359218.9:c.77576C>A (TTN) ENSP00000352154.5:p.Ser25859Tyr
ENST00000460472.6:c.77201C>A (TTN) ENSP00000434586.1:p.Ser25734Tyr
ENST00000589042.5:c.104396C>A (TTN) MANE Select ENSP00000467141.1:p.Ser34799Tyr
ENST00000591111.5:c.99473C>A (TTN) ENSP00000465570.1:p.Ser33158Tyr
ENST00000615779.4:c.99473C>A (TTN) ENSP00000483597.1:p.Ser33158Tyr
NM_001256850.1:c.99473C>A (TTN) NP_001243779.1:p.Ser33158Tyr
NM_001267550.2:c.104396C>A (TTN) MANE Select NP_001254479.2:p.Ser34799Tyr
NM_003319.4:c.77201C>A (TTN) NP_003310.4:p.Ser25734Tyr
NM_133378.4:c.96692C>A (TTN) NP_596869.4:p.Ser32231Tyr
NM_133432.3:c.77576C>A (TTN) NP_597676.3:p.Ser25859Tyr
NM_133437.4:c.77777C>A (TTN) NP_597681.4:p.Ser25926Tyr
NR_038271.1:n.446+8583G>T (TTN-AS1)
NR_038272.1:n.220-3513G>T (TTN-AS1)
XM_011511729.1:c.103493C>A (TTN) XP_011510031.1:p.Ser34498Tyr
XM_011511730.1:c.77387C>A (TTN) XP_011510032.1:p.Ser25796Tyr
XM_011511731.1:c.77246C>A (TTN) XP_011510033.1:p.Ser25749Tyr
XM_017004819.1:c.103289C>A (TTN) XP_016860308.1:p.Ser34430Tyr
XM_017004820.1:c.98687C>A (TTN) XP_016860309.1:p.Ser32896Tyr
XM_017004821.1:c.98684C>A (TTN) XP_016860310.1:p.Ser32895Tyr
XM_017004822.1:c.95726C>A (TTN) XP_016860311.1:p.Ser31909Tyr
XM_017004823.1:c.77342C>A (TTN) XP_016860312.1:p.Ser25781Tyr
XM_024453094.1:c.98837C>A (TTN) XP_024308862.1:p.Ser32946Tyr
XM_024453095.1:c.98834C>A (TTN) XP_024308863.1:p.Ser32945Tyr
XM_024453096.1:c.98267C>A (TTN) XP_024308864.1:p.Ser32756Tyr
XM_024453097.1:c.95609C>A (TTN) XP_024308865.1:p.Ser31870Tyr
XM_024453098.1:c.95528C>A (TTN) XP_024308866.1:p.Ser31843Tyr
XM_024453099.1:c.77291C>A (TTN) XP_024308867.1:p.Ser25764Tyr
XM_024453100.1:c.67145C>A (TTN) XP_024308868.1:p.Ser22382Tyr