Canonical Allele Identifier: CA349459770

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545480C>G , CM000664.2:g.178545480C>G GRCh38
NC_000002.11:g.179410207C>G , CM000664.1:g.179410207C>G GRCh37
NC_000002.10:g.179118453C>G NCBI36
NG_011618.3:g.290323G>C , LRG_391:g.290323G>C
NG_051363.1:g.27654C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87926G>C (TTN) ENSP00000343764.6:p.Cys29309Ser
ENST00000342175.11:c.69011G>C (TTN) ENSP00000340554.6:p.Cys23004Ser
ENST00000359218.10:c.68810G>C (TTN) ENSP00000352154.5:p.Cys22937Ser
ENST00000342175.10:c.69011G>C (TTN) ENSP00000340554.6:p.Cys23004Ser
ENST00000342992.10:c.87926G>C (TTN) ENSP00000343764.6:p.Cys29309Ser
ENST00000359218.9:c.68810G>C (TTN) ENSP00000352154.5:p.Cys22937Ser
ENST00000460472.6:c.68435G>C (TTN) ENSP00000434586.1:p.Cys22812Ser
ENST00000589042.5:c.95630G>C (TTN) MANE Select ENSP00000467141.1:p.Cys31877Ser
ENST00000591111.5:c.90707G>C (TTN) ENSP00000465570.1:p.Cys30236Ser
ENST00000615779.4:c.90707G>C (TTN) ENSP00000483597.1:p.Cys30236Ser
NM_001256850.1:c.90707G>C (TTN) NP_001243779.1:p.Cys30236Ser
NM_001267550.2:c.95630G>C (TTN) MANE Select NP_001254479.2:p.Cys31877Ser
NM_003319.4:c.68435G>C (TTN) NP_003310.4:p.Cys22812Ser
NM_133378.4:c.87926G>C (TTN) NP_596869.4:p.Cys29309Ser
NM_133432.3:c.68810G>C (TTN) NP_597676.3:p.Cys22937Ser
NM_133437.4:c.69011G>C (TTN) NP_597681.4:p.Cys23004Ser
NR_038271.1:n.446+21844C>G (TTN-AS1)
NR_038272.1:n.2043+3119C>G (TTN-AS1)
XM_011511729.1:c.94727G>C (TTN) XP_011510031.1:p.Cys31576Ser
XM_011511730.1:c.68621G>C (TTN) XP_011510032.1:p.Cys22874Ser
XM_011511731.1:c.68480G>C (TTN) XP_011510033.1:p.Cys22827Ser
XM_017004819.1:c.94523G>C (TTN) XP_016860308.1:p.Cys31508Ser
XM_017004820.1:c.89921G>C (TTN) XP_016860309.1:p.Cys29974Ser
XM_017004821.1:c.89918G>C (TTN) XP_016860310.1:p.Cys29973Ser
XM_017004822.1:c.86960G>C (TTN) XP_016860311.1:p.Cys28987Ser
XM_017004823.1:c.68576G>C (TTN) XP_016860312.1:p.Cys22859Ser
XM_024453094.1:c.90071G>C (TTN) XP_024308862.1:p.Cys30024Ser
XM_024453095.1:c.90068G>C (TTN) XP_024308863.1:p.Cys30023Ser
XM_024453096.1:c.89501G>C (TTN) XP_024308864.1:p.Cys29834Ser
XM_024453097.1:c.86843G>C (TTN) XP_024308865.1:p.Cys28948Ser
XM_024453098.1:c.86762G>C (TTN) XP_024308866.1:p.Cys28921Ser
XM_024453099.1:c.68525G>C (TTN) XP_024308867.1:p.Cys22842Ser
XM_024453100.1:c.58379G>C (TTN) XP_024308868.1:p.Cys19460Ser