Canonical Allele Identifier: CA349405870

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530256C>G , CM000664.2:g.178530256C>G GRCh38
NC_000002.11:g.179394983C>G , CM000664.1:g.179394983C>G GRCh37
NC_000002.10:g.179103229C>G NCBI36
NG_011618.3:g.305547G>C , LRG_391:g.305547G>C
NG_051363.1:g.12430C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98655G>C (TTN) ENSP00000343764.6:p.Trp32885Cys
ENST00000342175.11:c.79740G>C (TTN) ENSP00000340554.6:p.Trp26580Cys
ENST00000359218.10:c.79539G>C (TTN) ENSP00000352154.5:p.Trp26513Cys
ENST00000342175.10:c.79740G>C (TTN) ENSP00000340554.6:p.Trp26580Cys
ENST00000342992.10:c.98655G>C (TTN) ENSP00000343764.6:p.Trp32885Cys
ENST00000359218.9:c.79539G>C (TTN) ENSP00000352154.5:p.Trp26513Cys
ENST00000460472.6:c.79164G>C (TTN) ENSP00000434586.1:p.Trp26388Cys
ENST00000589042.5:c.106359G>C (TTN) MANE Select ENSP00000467141.1:p.Trp35453Cys
ENST00000591111.5:c.101436G>C (TTN) ENSP00000465570.1:p.Trp33812Cys
ENST00000615779.4:c.101436G>C (TTN) ENSP00000483597.1:p.Trp33812Cys
NM_001256850.1:c.101436G>C (TTN) NP_001243779.1:p.Trp33812Cys
NM_001267550.2:c.106359G>C (TTN) MANE Select NP_001254479.2:p.Trp35453Cys
NM_003319.4:c.79164G>C (TTN) NP_003310.4:p.Trp26388Cys
NM_133378.4:c.98655G>C (TTN) NP_596869.4:p.Trp32885Cys
NM_133432.3:c.79539G>C (TTN) NP_597676.3:p.Trp26513Cys
NM_133437.4:c.79740G>C (TTN) NP_597681.4:p.Trp26580Cys
NR_038271.1:n.446+6620C>G (TTN-AS1)
NR_038272.1:n.220-5476C>G (TTN-AS1)
XM_011511729.1:c.105456G>C (TTN) XP_011510031.1:p.Trp35152Cys
XM_011511730.1:c.79350G>C (TTN) XP_011510032.1:p.Trp26450Cys
XM_011511731.1:c.79209G>C (TTN) XP_011510033.1:p.Trp26403Cys
XM_017004819.1:c.105252G>C (TTN) XP_016860308.1:p.Trp35084Cys
XM_017004820.1:c.100650G>C (TTN) XP_016860309.1:p.Trp33550Cys
XM_017004821.1:c.100647G>C (TTN) XP_016860310.1:p.Trp33549Cys
XM_017004822.1:c.97689G>C (TTN) XP_016860311.1:p.Trp32563Cys
XM_017004823.1:c.79305G>C (TTN) XP_016860312.1:p.Trp26435Cys
XM_024453094.1:c.100800G>C (TTN) XP_024308862.1:p.Trp33600Cys
XM_024453095.1:c.100797G>C (TTN) XP_024308863.1:p.Trp33599Cys
XM_024453096.1:c.100230G>C (TTN) XP_024308864.1:p.Trp33410Cys
XM_024453097.1:c.97572G>C (TTN) XP_024308865.1:p.Trp32524Cys
XM_024453098.1:c.97491G>C (TTN) XP_024308866.1:p.Trp32497Cys
XM_024453099.1:c.79254G>C (TTN) XP_024308867.1:p.Trp26418Cys
XM_024453100.1:c.69108G>C (TTN) XP_024308868.1:p.Trp23036Cys