Canonical Allele Identifier: CA349405229

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530044C>A , CM000664.2:g.178530044C>A GRCh38
NC_000002.11:g.179394771C>A , CM000664.1:g.179394771C>A GRCh37
NC_000002.10:g.179103017C>A NCBI36
NG_011618.3:g.305759G>T , LRG_391:g.305759G>T
NG_051363.1:g.12218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98743G>T (TTN) ENSP00000343764.6:p.Asp32915Tyr
ENST00000342175.11:c.79828G>T (TTN) ENSP00000340554.6:p.Asp26610Tyr
ENST00000359218.10:c.79627G>T (TTN) ENSP00000352154.5:p.Asp26543Tyr
ENST00000342175.10:c.79828G>T (TTN) ENSP00000340554.6:p.Asp26610Tyr
ENST00000342992.10:c.98743G>T (TTN) ENSP00000343764.6:p.Asp32915Tyr
ENST00000359218.9:c.79627G>T (TTN) ENSP00000352154.5:p.Asp26543Tyr
ENST00000460472.6:c.79252G>T (TTN) ENSP00000434586.1:p.Asp26418Tyr
ENST00000589042.5:c.106447G>T (TTN) MANE Select ENSP00000467141.1:p.Asp35483Tyr
ENST00000591111.5:c.101524G>T (TTN) ENSP00000465570.1:p.Asp33842Tyr
ENST00000615779.4:c.101524G>T (TTN) ENSP00000483597.1:p.Asp33842Tyr
NM_001256850.1:c.101524G>T (TTN) NP_001243779.1:p.Asp33842Tyr
NM_001267550.2:c.106447G>T (TTN) MANE Select NP_001254479.2:p.Asp35483Tyr
NM_003319.4:c.79252G>T (TTN) NP_003310.4:p.Asp26418Tyr
NM_133378.4:c.98743G>T (TTN) NP_596869.4:p.Asp32915Tyr
NM_133432.3:c.79627G>T (TTN) NP_597676.3:p.Asp26543Tyr
NM_133437.4:c.79828G>T (TTN) NP_597681.4:p.Asp26610Tyr
NR_038271.1:n.446+6408C>A (TTN-AS1)
NR_038272.1:n.220-5688C>A (TTN-AS1)
XM_011511729.1:c.105544G>T (TTN) XP_011510031.1:p.Asp35182Tyr
XM_011511730.1:c.79438G>T (TTN) XP_011510032.1:p.Asp26480Tyr
XM_011511731.1:c.79297G>T (TTN) XP_011510033.1:p.Asp26433Tyr
XM_017004819.1:c.105340G>T (TTN) XP_016860308.1:p.Asp35114Tyr
XM_017004820.1:c.100738G>T (TTN) XP_016860309.1:p.Asp33580Tyr
XM_017004821.1:c.100735G>T (TTN) XP_016860310.1:p.Asp33579Tyr
XM_017004822.1:c.97777G>T (TTN) XP_016860311.1:p.Asp32593Tyr
XM_017004823.1:c.79393G>T (TTN) XP_016860312.1:p.Asp26465Tyr
XM_024453094.1:c.100888G>T (TTN) XP_024308862.1:p.Asp33630Tyr
XM_024453095.1:c.100885G>T (TTN) XP_024308863.1:p.Asp33629Tyr
XM_024453096.1:c.100318G>T (TTN) XP_024308864.1:p.Asp33440Tyr
XM_024453097.1:c.97660G>T (TTN) XP_024308865.1:p.Asp32554Tyr
XM_024453098.1:c.97579G>T (TTN) XP_024308866.1:p.Asp32527Tyr
XM_024453099.1:c.79342G>T (TTN) XP_024308867.1:p.Asp26448Tyr
XM_024453100.1:c.69196G>T (TTN) XP_024308868.1:p.Asp23066Tyr