Canonical Allele Identifier: CA349400195

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527603G>C , CM000664.2:g.178527603G>C GRCh38
NC_000002.11:g.179392330G>C , CM000664.1:g.179392330G>C GRCh37
NC_000002.10:g.179100576G>C NCBI36
NG_011618.3:g.308200C>G , LRG_391:g.308200C>G
NG_051363.1:g.9777G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99819C>G (TTN) ENSP00000343764.6:p.Ser33273Arg
ENST00000342175.11:c.80904C>G (TTN) ENSP00000340554.6:p.Ser26968Arg
ENST00000359218.10:c.80703C>G (TTN) ENSP00000352154.5:p.Ser26901Arg
ENST00000342175.10:c.80904C>G (TTN) ENSP00000340554.6:p.Ser26968Arg
ENST00000342992.10:c.99819C>G (TTN) ENSP00000343764.6:p.Ser33273Arg
ENST00000359218.9:c.80703C>G (TTN) ENSP00000352154.5:p.Ser26901Arg
ENST00000460472.6:c.80328C>G (TTN) ENSP00000434586.1:p.Ser26776Arg
ENST00000589042.5:c.107523C>G (TTN) MANE Select ENSP00000467141.1:p.Ser35841Arg
ENST00000591111.5:c.102600C>G (TTN) ENSP00000465570.1:p.Ser34200Arg
ENST00000615779.4:c.102600C>G (TTN) ENSP00000483597.1:p.Ser34200Arg
NM_001256850.1:c.102600C>G (TTN) NP_001243779.1:p.Ser34200Arg
NM_001267550.2:c.107523C>G (TTN) MANE Select NP_001254479.2:p.Ser35841Arg
NM_003319.4:c.80328C>G (TTN) NP_003310.4:p.Ser26776Arg
NM_133378.4:c.99819C>G (TTN) NP_596869.4:p.Ser33273Arg
NM_133432.3:c.80703C>G (TTN) NP_597676.3:p.Ser26901Arg
NM_133437.4:c.80904C>G (TTN) NP_597681.4:p.Ser26968Arg
NR_038271.1:n.446+3967G>C (TTN-AS1)
NR_038272.1:n.219+3967G>C (TTN-AS1)
XM_011511729.1:c.106620C>G (TTN) XP_011510031.1:p.Ser35540Arg
XM_011511730.1:c.80514C>G (TTN) XP_011510032.1:p.Ser26838Arg
XM_011511731.1:c.80373C>G (TTN) XP_011510033.1:p.Ser26791Arg
XM_017004819.1:c.106416C>G (TTN) XP_016860308.1:p.Ser35472Arg
XM_017004820.1:c.101814C>G (TTN) XP_016860309.1:p.Ser33938Arg
XM_017004821.1:c.101811C>G (TTN) XP_016860310.1:p.Ser33937Arg
XM_017004822.1:c.98853C>G (TTN) XP_016860311.1:p.Ser32951Arg
XM_017004823.1:c.80469C>G (TTN) XP_016860312.1:p.Ser26823Arg
XM_024453094.1:c.101964C>G (TTN) XP_024308862.1:p.Ser33988Arg
XM_024453095.1:c.101961C>G (TTN) XP_024308863.1:p.Ser33987Arg
XM_024453096.1:c.101394C>G (TTN) XP_024308864.1:p.Ser33798Arg
XM_024453097.1:c.98736C>G (TTN) XP_024308865.1:p.Ser32912Arg
XM_024453098.1:c.98655C>G (TTN) XP_024308866.1:p.Ser32885Arg
XM_024453099.1:c.80418C>G (TTN) XP_024308867.1:p.Ser26806Arg
XM_024453100.1:c.70272C>G (TTN) XP_024308868.1:p.Ser23424Arg