Canonical Allele Identifier: CA349507090

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594024A>C , CM000664.2:g.178594024A>C GRCh38
NC_000002.11:g.179458751A>C , CM000664.1:g.179458751A>C GRCh37
NC_000002.10:g.179166997A>C NCBI36
NG_011618.3:g.241779T>G , LRG_391:g.241779T>G
NG_051363.1:g.76198A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.50665T>G (TTN) ENSP00000343764.6:p.Tyr16889Asp
ENST00000342175.11:c.31750T>G (TTN) ENSP00000340554.6:p.Tyr10584Asp
ENST00000359218.10:c.31549T>G (TTN) ENSP00000352154.5:p.Tyr10517Asp
ENST00000342175.10:c.31750T>G (TTN) ENSP00000340554.6:p.Tyr10584Asp
ENST00000342992.10:c.50665T>G (TTN) ENSP00000343764.6:p.Tyr16889Asp
ENST00000359218.9:c.31549T>G (TTN) ENSP00000352154.5:p.Tyr10517Asp
ENST00000460472.6:c.31174T>G (TTN) ENSP00000434586.1:p.Tyr10392Asp
ENST00000589042.5:c.58369T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr19457Asp
ENST00000591111.5:c.53446T>G (TTN) ENSP00000465570.1:p.Tyr17816Asp
ENST00000615779.4:c.53446T>G (TTN) ENSP00000483597.1:p.Tyr17816Asp
NM_001256850.1:c.53446T>G (TTN) NP_001243779.1:p.Tyr17816Asp
NM_001267550.2:c.58369T>G (TTN) MANE Select NP_001254479.2:p.Tyr19457Asp
NM_003319.4:c.31174T>G (TTN) NP_003310.4:p.Tyr10392Asp
NM_133378.4:c.50665T>G (TTN) NP_596869.4:p.Tyr16889Asp
NM_133432.3:c.31549T>G (TTN) NP_597676.3:p.Tyr10517Asp
NM_133437.4:c.31750T>G (TTN) NP_597681.4:p.Tyr10584Asp
NR_038271.1:n.597-3572A>C (TTN-AS1)
NR_038272.1:n.3364+2710A>C (TTN-AS1)
XM_011511729.1:c.57466T>G (TTN) XP_011510031.1:p.Tyr19156Asp
XM_011511730.1:c.31360T>G (TTN) XP_011510032.1:p.Tyr10454Asp
XM_011511731.1:c.31219T>G (TTN) XP_011510033.1:p.Tyr10407Asp
XM_017004819.1:c.57262T>G (TTN) XP_016860308.1:p.Tyr19088Asp
XM_017004820.1:c.52660T>G (TTN) XP_016860309.1:p.Tyr17554Asp
XM_017004821.1:c.52657T>G (TTN) XP_016860310.1:p.Tyr17553Asp
XM_017004822.1:c.49699T>G (TTN) XP_016860311.1:p.Tyr16567Asp
XM_017004823.1:c.31315T>G (TTN) XP_016860312.1:p.Tyr10439Asp
XM_024453094.1:c.52810T>G (TTN) XP_024308862.1:p.Tyr17604Asp
XM_024453095.1:c.52807T>G (TTN) XP_024308863.1:p.Tyr17603Asp
XM_024453096.1:c.52240T>G (TTN) XP_024308864.1:p.Tyr17414Asp
XM_024453097.1:c.49582T>G (TTN) XP_024308865.1:p.Tyr16528Asp
XM_024453098.1:c.49501T>G (TTN) XP_024308866.1:p.Tyr16501Asp
XM_024453099.1:c.31264T>G (TTN) XP_024308867.1:p.Tyr10422Asp
XM_024453100.1:c.21118T>G (TTN) XP_024308868.1:p.Tyr7040Asp