Canonical Allele Identifier: CA349398215

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527049T>C , CM000664.2:g.178527049T>C GRCh38
NC_000002.11:g.179391776T>C , CM000664.1:g.179391776T>C GRCh37
NC_000002.10:g.179100022T>C NCBI36
NG_011618.3:g.308754A>G , LRG_391:g.308754A>G
NG_051363.1:g.9223T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100235A>G (TTN) ENSP00000343764.6:p.Asp33412Gly
ENST00000342175.11:c.81320A>G (TTN) ENSP00000340554.6:p.Asp27107Gly
ENST00000359218.10:c.81119A>G (TTN) ENSP00000352154.5:p.Asp27040Gly
ENST00000342175.10:c.81320A>G (TTN) ENSP00000340554.6:p.Asp27107Gly
ENST00000342992.10:c.100235A>G (TTN) ENSP00000343764.6:p.Asp33412Gly
ENST00000359218.9:c.81119A>G (TTN) ENSP00000352154.5:p.Asp27040Gly
ENST00000460472.6:c.80744A>G (TTN) ENSP00000434586.1:p.Asp26915Gly
ENST00000589042.5:c.107939A>G (TTN) MANE Select ENSP00000467141.1:p.Asp35980Gly
ENST00000591111.5:c.103016A>G (TTN) ENSP00000465570.1:p.Asp34339Gly
ENST00000615779.4:c.103016A>G (TTN) ENSP00000483597.1:p.Asp34339Gly
NM_001256850.1:c.103016A>G (TTN) NP_001243779.1:p.Asp34339Gly
NM_001267550.2:c.107939A>G (TTN) MANE Select NP_001254479.2:p.Asp35980Gly
NM_003319.4:c.80744A>G (TTN) NP_003310.4:p.Asp26915Gly
NM_133378.4:c.100235A>G (TTN) NP_596869.4:p.Asp33412Gly
NM_133432.3:c.81119A>G (TTN) NP_597676.3:p.Asp27040Gly
NM_133437.4:c.81320A>G (TTN) NP_597681.4:p.Asp27107Gly
NR_038271.1:n.446+3413T>C (TTN-AS1)
NR_038272.1:n.219+3413T>C (TTN-AS1)
XM_011511729.1:c.107036A>G (TTN) XP_011510031.1:p.Asp35679Gly
XM_011511730.1:c.80930A>G (TTN) XP_011510032.1:p.Asp26977Gly
XM_011511731.1:c.80789A>G (TTN) XP_011510033.1:p.Asp26930Gly
XM_017004819.1:c.106832A>G (TTN) XP_016860308.1:p.Asp35611Gly
XM_017004820.1:c.102230A>G (TTN) XP_016860309.1:p.Asp34077Gly
XM_017004821.1:c.102227A>G (TTN) XP_016860310.1:p.Asp34076Gly
XM_017004822.1:c.99269A>G (TTN) XP_016860311.1:p.Asp33090Gly
XM_017004823.1:c.80885A>G (TTN) XP_016860312.1:p.Asp26962Gly
XM_024453094.1:c.102380A>G (TTN) XP_024308862.1:p.Asp34127Gly
XM_024453095.1:c.102377A>G (TTN) XP_024308863.1:p.Asp34126Gly
XM_024453096.1:c.101810A>G (TTN) XP_024308864.1:p.Asp33937Gly
XM_024453097.1:c.99152A>G (TTN) XP_024308865.1:p.Asp33051Gly
XM_024453098.1:c.99071A>G (TTN) XP_024308866.1:p.Asp33024Gly
XM_024453099.1:c.80834A>G (TTN) XP_024308867.1:p.Asp26945Gly
XM_024453100.1:c.70688A>G (TTN) XP_024308868.1:p.Asp23563Gly