Canonical Allele Identifier: CA349600569

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567207A>G , CM000664.2:g.178567207A>G GRCh38
NC_000002.11:g.179431934A>G , CM000664.1:g.179431934A>G GRCh37
NC_000002.10:g.179140180A>G NCBI36
NG_011618.3:g.268596T>C , LRG_391:g.268596T>C
NG_051363.1:g.49381A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71221T>C (TTN) ENSP00000343764.6:p.Ser23741Pro
ENST00000342175.11:c.52306T>C (TTN) ENSP00000340554.6:p.Ser17436Pro
ENST00000359218.10:c.52105T>C (TTN) ENSP00000352154.5:p.Ser17369Pro
ENST00000342175.10:c.52306T>C (TTN) ENSP00000340554.6:p.Ser17436Pro
ENST00000342992.10:c.71221T>C (TTN) ENSP00000343764.6:p.Ser23741Pro
ENST00000359218.9:c.52105T>C (TTN) ENSP00000352154.5:p.Ser17369Pro
ENST00000460472.6:c.51730T>C (TTN) ENSP00000434586.1:p.Ser17244Pro
ENST00000589042.5:c.78925T>C (TTN) MANE Select ENSP00000467141.1:p.Ser26309Pro
ENST00000591111.5:c.74002T>C (TTN) ENSP00000465570.1:p.Ser24668Pro
ENST00000615779.4:c.74002T>C (TTN) ENSP00000483597.1:p.Ser24668Pro
NM_001256850.1:c.74002T>C (TTN) NP_001243779.1:p.Ser24668Pro
NM_001267550.2:c.78925T>C (TTN) MANE Select NP_001254479.2:p.Ser26309Pro
NM_003319.4:c.51730T>C (TTN) NP_003310.4:p.Ser17244Pro
NM_133378.4:c.71221T>C (TTN) NP_596869.4:p.Ser23741Pro
NM_133432.3:c.52105T>C (TTN) NP_597676.3:p.Ser17369Pro
NM_133437.4:c.52306T>C (TTN) NP_597681.4:p.Ser17436Pro
NR_038271.1:n.447-4093A>G (TTN-AS1)
NR_038272.1:n.2044-15365A>G (TTN-AS1)
XM_011511729.1:c.78022T>C (TTN) XP_011510031.1:p.Ser26008Pro
XM_011511730.1:c.51916T>C (TTN) XP_011510032.1:p.Ser17306Pro
XM_011511731.1:c.51775T>C (TTN) XP_011510033.1:p.Ser17259Pro
XM_017004819.1:c.77818T>C (TTN) XP_016860308.1:p.Ser25940Pro
XM_017004820.1:c.73216T>C (TTN) XP_016860309.1:p.Ser24406Pro
XM_017004821.1:c.73213T>C (TTN) XP_016860310.1:p.Ser24405Pro
XM_017004822.1:c.70255T>C (TTN) XP_016860311.1:p.Ser23419Pro
XM_017004823.1:c.51871T>C (TTN) XP_016860312.1:p.Ser17291Pro
XM_024453094.1:c.73366T>C (TTN) XP_024308862.1:p.Ser24456Pro
XM_024453095.1:c.73363T>C (TTN) XP_024308863.1:p.Ser24455Pro
XM_024453096.1:c.72796T>C (TTN) XP_024308864.1:p.Ser24266Pro
XM_024453097.1:c.70138T>C (TTN) XP_024308865.1:p.Ser23380Pro
XM_024453098.1:c.70057T>C (TTN) XP_024308866.1:p.Ser23353Pro
XM_024453099.1:c.51820T>C (TTN) XP_024308867.1:p.Ser17274Pro
XM_024453100.1:c.41674T>C (TTN) XP_024308868.1:p.Ser13892Pro