Canonical Allele Identifier: CA1985133

Linked Data

dbSNP Id: rs773091136

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530320G>T , CM000664.2:g.178530320G>T GRCh38
NC_000002.11:g.179395047G>T , CM000664.1:g.179395047G>T GRCh37
NC_000002.10:g.179103293G>T NCBI36
NG_011618.3:g.305483C>A , LRG_391:g.305483C>A
NG_051363.1:g.12494G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98591C>A (TTN) ENSP00000343764.6:p.Ser32864Tyr
ENST00000342175.11:c.79676C>A (TTN) ENSP00000340554.6:p.Ser26559Tyr
ENST00000359218.10:c.79475C>A (TTN) ENSP00000352154.5:p.Ser26492Tyr
ENST00000342175.10:c.79676C>A (TTN) ENSP00000340554.6:p.Ser26559Tyr
ENST00000342992.10:c.98591C>A (TTN) ENSP00000343764.6:p.Ser32864Tyr
ENST00000359218.9:c.79475C>A (TTN) ENSP00000352154.5:p.Ser26492Tyr
ENST00000460472.6:c.79100C>A (TTN) ENSP00000434586.1:p.Ser26367Tyr
ENST00000589042.5:c.106295C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35432Tyr
ENST00000591111.5:c.101372C>A (TTN) ENSP00000465570.1:p.Ser33791Tyr
ENST00000615779.4:c.101372C>A (TTN) ENSP00000483597.1:p.Ser33791Tyr
NM_001256850.1:c.101372C>A (TTN) NP_001243779.1:p.Ser33791Tyr
NM_001267550.2:c.106295C>A (TTN) MANE Select NP_001254479.2:p.Ser35432Tyr
NM_003319.4:c.79100C>A (TTN) NP_003310.4:p.Ser26367Tyr
NM_133378.4:c.98591C>A (TTN) NP_596869.4:p.Ser32864Tyr
NM_133432.3:c.79475C>A (TTN) NP_597676.3:p.Ser26492Tyr
NM_133437.4:c.79676C>A (TTN) NP_597681.4:p.Ser26559Tyr
NR_038271.1:n.446+6684G>T (TTN-AS1)
NR_038272.1:n.220-5412G>T (TTN-AS1)
XM_011511729.1:c.105392C>A (TTN) XP_011510031.1:p.Ser35131Tyr
XM_011511730.1:c.79286C>A (TTN) XP_011510032.1:p.Ser26429Tyr
XM_011511731.1:c.79145C>A (TTN) XP_011510033.1:p.Ser26382Tyr
XM_017004819.1:c.105188C>A (TTN) XP_016860308.1:p.Ser35063Tyr
XM_017004820.1:c.100586C>A (TTN) XP_016860309.1:p.Ser33529Tyr
XM_017004821.1:c.100583C>A (TTN) XP_016860310.1:p.Ser33528Tyr
XM_017004822.1:c.97625C>A (TTN) XP_016860311.1:p.Ser32542Tyr
XM_017004823.1:c.79241C>A (TTN) XP_016860312.1:p.Ser26414Tyr
XM_024453094.1:c.100736C>A (TTN) XP_024308862.1:p.Ser33579Tyr
XM_024453095.1:c.100733C>A (TTN) XP_024308863.1:p.Ser33578Tyr
XM_024453096.1:c.100166C>A (TTN) XP_024308864.1:p.Ser33389Tyr
XM_024453097.1:c.97508C>A (TTN) XP_024308865.1:p.Ser32503Tyr
XM_024453098.1:c.97427C>A (TTN) XP_024308866.1:p.Ser32476Tyr
XM_024453099.1:c.79190C>A (TTN) XP_024308867.1:p.Ser26397Tyr
XM_024453100.1:c.69044C>A (TTN) XP_024308868.1:p.Ser23015Tyr