Canonical Allele Identifier: CA349562642

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562077A>C , CM000664.2:g.178562077A>C GRCh38
NC_000002.11:g.179426804A>C , CM000664.1:g.179426804A>C GRCh37
NC_000002.10:g.179135050A>C NCBI36
NG_011618.3:g.273726T>G , LRG_391:g.273726T>G
NG_051363.1:g.44251A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76351T>G (TTN) ENSP00000343764.6:p.Ser25451Ala
ENST00000342175.11:c.57436T>G (TTN) ENSP00000340554.6:p.Ser19146Ala
ENST00000359218.10:c.57235T>G (TTN) ENSP00000352154.5:p.Ser19079Ala
ENST00000342175.10:c.57436T>G (TTN) ENSP00000340554.6:p.Ser19146Ala
ENST00000342992.10:c.76351T>G (TTN) ENSP00000343764.6:p.Ser25451Ala
ENST00000359218.9:c.57235T>G (TTN) ENSP00000352154.5:p.Ser19079Ala
ENST00000460472.6:c.56860T>G (TTN) ENSP00000434586.1:p.Ser18954Ala
ENST00000589042.5:c.84055T>G (TTN) MANE Select ENSP00000467141.1:p.Ser28019Ala
ENST00000591111.5:c.79132T>G (TTN) ENSP00000465570.1:p.Ser26378Ala
ENST00000615779.4:c.79132T>G (TTN) ENSP00000483597.1:p.Ser26378Ala
NM_001256850.1:c.79132T>G (TTN) NP_001243779.1:p.Ser26378Ala
NM_001267550.2:c.84055T>G (TTN) MANE Select NP_001254479.2:p.Ser28019Ala
NM_003319.4:c.56860T>G (TTN) NP_003310.4:p.Ser18954Ala
NM_133378.4:c.76351T>G (TTN) NP_596869.4:p.Ser25451Ala
NM_133432.3:c.57235T>G (TTN) NP_597676.3:p.Ser19079Ala
NM_133437.4:c.57436T>G (TTN) NP_597681.4:p.Ser19146Ala
NR_038271.1:n.447-9223A>C (TTN-AS1)
NR_038272.1:n.2043+19716A>C (TTN-AS1)
XM_011511729.1:c.83152T>G (TTN) XP_011510031.1:p.Ser27718Ala
XM_011511730.1:c.57046T>G (TTN) XP_011510032.1:p.Ser19016Ala
XM_011511731.1:c.56905T>G (TTN) XP_011510033.1:p.Ser18969Ala
XM_017004819.1:c.82948T>G (TTN) XP_016860308.1:p.Ser27650Ala
XM_017004820.1:c.78346T>G (TTN) XP_016860309.1:p.Ser26116Ala
XM_017004821.1:c.78343T>G (TTN) XP_016860310.1:p.Ser26115Ala
XM_017004822.1:c.75385T>G (TTN) XP_016860311.1:p.Ser25129Ala
XM_017004823.1:c.57001T>G (TTN) XP_016860312.1:p.Ser19001Ala
XM_024453094.1:c.78496T>G (TTN) XP_024308862.1:p.Ser26166Ala
XM_024453095.1:c.78493T>G (TTN) XP_024308863.1:p.Ser26165Ala
XM_024453096.1:c.77926T>G (TTN) XP_024308864.1:p.Ser25976Ala
XM_024453097.1:c.75268T>G (TTN) XP_024308865.1:p.Ser25090Ala
XM_024453098.1:c.75187T>G (TTN) XP_024308866.1:p.Ser25063Ala
XM_024453099.1:c.56950T>G (TTN) XP_024308867.1:p.Ser18984Ala
XM_024453100.1:c.46804T>G (TTN) XP_024308868.1:p.Ser15602Ala