Canonical Allele Identifier: CA349398214

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100235A>T (TTN) ENSP00000343764.6:p.Asp33412Val
ENST00000342175.11:c.81320A>T (TTN) ENSP00000340554.6:p.Asp27107Val
ENST00000359218.10:c.81119A>T (TTN) ENSP00000352154.5:p.Asp27040Val
ENST00000342175.10:c.81320A>T (TTN) ENSP00000340554.6:p.Asp27107Val
ENST00000342992.10:c.100235A>T (TTN) ENSP00000343764.6:p.Asp33412Val
ENST00000359218.9:c.81119A>T (TTN) ENSP00000352154.5:p.Asp27040Val
ENST00000460472.6:c.80744A>T (TTN) ENSP00000434586.1:p.Asp26915Val
ENST00000589042.5:c.107939A>T (TTN) MANE Select ENSP00000467141.1:p.Asp35980Val
ENST00000591111.5:c.103016A>T (TTN) ENSP00000465570.1:p.Asp34339Val
ENST00000615779.4:c.103016A>T (TTN) ENSP00000483597.1:p.Asp34339Val
NM_001256850.1:c.103016A>T (TTN) NP_001243779.1:p.Asp34339Val
NM_001267550.2:c.107939A>T (TTN) MANE Select NP_001254479.2:p.Asp35980Val
NM_003319.4:c.80744A>T (TTN) NP_003310.4:p.Asp26915Val
NM_133378.4:c.100235A>T (TTN) NP_596869.4:p.Asp33412Val
NM_133432.3:c.81119A>T (TTN) NP_597676.3:p.Asp27040Val
NM_133437.4:c.81320A>T (TTN) NP_597681.4:p.Asp27107Val
NR_038271.1:n.446+3413T>A (TTN-AS1)
NR_038272.1:n.219+3413T>A (TTN-AS1)
XM_011511729.1:c.107036A>T (TTN) XP_011510031.1:p.Asp35679Val
XM_011511730.1:c.80930A>T (TTN) XP_011510032.1:p.Asp26977Val
XM_011511731.1:c.80789A>T (TTN) XP_011510033.1:p.Asp26930Val
XM_017004819.1:c.106832A>T (TTN) XP_016860308.1:p.Asp35611Val
XM_017004820.1:c.102230A>T (TTN) XP_016860309.1:p.Asp34077Val
XM_017004821.1:c.102227A>T (TTN) XP_016860310.1:p.Asp34076Val
XM_017004822.1:c.99269A>T (TTN) XP_016860311.1:p.Asp33090Val
XM_017004823.1:c.80885A>T (TTN) XP_016860312.1:p.Asp26962Val
XM_024453094.1:c.102380A>T (TTN) XP_024308862.1:p.Asp34127Val
XM_024453095.1:c.102377A>T (TTN) XP_024308863.1:p.Asp34126Val
XM_024453096.1:c.101810A>T (TTN) XP_024308864.1:p.Asp33937Val
XM_024453097.1:c.99152A>T (TTN) XP_024308865.1:p.Asp33051Val
XM_024453098.1:c.99071A>T (TTN) XP_024308866.1:p.Asp33024Val
XM_024453099.1:c.80834A>T (TTN) XP_024308867.1:p.Asp26945Val
XM_024453100.1:c.70688A>T (TTN) XP_024308868.1:p.Asp23563Val