Canonical Allele Identifier: CA349511701

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552564A>C , CM000664.2:g.178552564A>C GRCh38
NC_000002.11:g.179417291A>C , CM000664.1:g.179417291A>C GRCh37
NC_000002.10:g.179125537A>C NCBI36
NG_011618.3:g.283239T>G , LRG_391:g.283239T>G
NG_051363.1:g.34738A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82632T>G (TTN) ENSP00000343764.6:p.Ser27544Arg
ENST00000342175.11:c.63717T>G (TTN) ENSP00000340554.6:p.Ser21239Arg
ENST00000359218.10:c.63516T>G (TTN) ENSP00000352154.5:p.Ser21172Arg
ENST00000342175.10:c.63717T>G (TTN) ENSP00000340554.6:p.Ser21239Arg
ENST00000342992.10:c.82632T>G (TTN) ENSP00000343764.6:p.Ser27544Arg
ENST00000359218.9:c.63516T>G (TTN) ENSP00000352154.5:p.Ser21172Arg
ENST00000460472.6:c.63141T>G (TTN) ENSP00000434586.1:p.Ser21047Arg
ENST00000589042.5:c.90336T>G (TTN) MANE Select ENSP00000467141.1:p.Ser30112Arg
ENST00000591111.5:c.85413T>G (TTN) ENSP00000465570.1:p.Ser28471Arg
ENST00000615779.4:c.85413T>G (TTN) ENSP00000483597.1:p.Ser28471Arg
NM_001256850.1:c.85413T>G (TTN) NP_001243779.1:p.Ser28471Arg
NM_001267550.2:c.90336T>G (TTN) MANE Select NP_001254479.2:p.Ser30112Arg
NM_003319.4:c.63141T>G (TTN) NP_003310.4:p.Ser21047Arg
NM_133378.4:c.82632T>G (TTN) NP_596869.4:p.Ser27544Arg
NM_133432.3:c.63516T>G (TTN) NP_597676.3:p.Ser21172Arg
NM_133437.4:c.63717T>G (TTN) NP_597681.4:p.Ser21239Arg
NR_038271.1:n.447-18736A>C (TTN-AS1)
NR_038272.1:n.2043+10203A>C (TTN-AS1)
XM_011511729.1:c.89433T>G (TTN) XP_011510031.1:p.Ser29811Arg
XM_011511730.1:c.63327T>G (TTN) XP_011510032.1:p.Ser21109Arg
XM_011511731.1:c.63186T>G (TTN) XP_011510033.1:p.Ser21062Arg
XM_017004819.1:c.89229T>G (TTN) XP_016860308.1:p.Ser29743Arg
XM_017004820.1:c.84627T>G (TTN) XP_016860309.1:p.Ser28209Arg
XM_017004821.1:c.84624T>G (TTN) XP_016860310.1:p.Ser28208Arg
XM_017004822.1:c.81666T>G (TTN) XP_016860311.1:p.Ser27222Arg
XM_017004823.1:c.63282T>G (TTN) XP_016860312.1:p.Ser21094Arg
XM_024453094.1:c.84777T>G (TTN) XP_024308862.1:p.Ser28259Arg
XM_024453095.1:c.84774T>G (TTN) XP_024308863.1:p.Ser28258Arg
XM_024453096.1:c.84207T>G (TTN) XP_024308864.1:p.Ser28069Arg
XM_024453097.1:c.81549T>G (TTN) XP_024308865.1:p.Ser27183Arg
XM_024453098.1:c.81468T>G (TTN) XP_024308866.1:p.Ser27156Arg
XM_024453099.1:c.63231T>G (TTN) XP_024308867.1:p.Ser21077Arg
XM_024453100.1:c.53085T>G (TTN) XP_024308868.1:p.Ser17695Arg