Canonical Allele Identifier: CA349457358

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544423C>A , CM000664.2:g.178544423C>A GRCh38
NC_000002.11:g.179409150C>A , CM000664.1:g.179409150C>A GRCh37
NC_000002.10:g.179117396C>A NCBI36
NG_011618.3:g.291380G>T , LRG_391:g.291380G>T
NG_051363.1:g.26597C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88102G>T (TTN) ENSP00000343764.6:p.Asp29368Tyr
ENST00000342175.11:c.69187G>T (TTN) ENSP00000340554.6:p.Asp23063Tyr
ENST00000359218.10:c.68986G>T (TTN) ENSP00000352154.5:p.Asp22996Tyr
ENST00000342175.10:c.69187G>T (TTN) ENSP00000340554.6:p.Asp23063Tyr
ENST00000342992.10:c.88102G>T (TTN) ENSP00000343764.6:p.Asp29368Tyr
ENST00000359218.9:c.68986G>T (TTN) ENSP00000352154.5:p.Asp22996Tyr
ENST00000460472.6:c.68611G>T (TTN) ENSP00000434586.1:p.Asp22871Tyr
ENST00000589042.5:c.95806G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31936Tyr
ENST00000591111.5:c.90883G>T (TTN) ENSP00000465570.1:p.Asp30295Tyr
ENST00000615779.4:c.90883G>T (TTN) ENSP00000483597.1:p.Asp30295Tyr
NM_001256850.1:c.90883G>T (TTN) NP_001243779.1:p.Asp30295Tyr
NM_001267550.2:c.95806G>T (TTN) MANE Select NP_001254479.2:p.Asp31936Tyr
NM_003319.4:c.68611G>T (TTN) NP_003310.4:p.Asp22871Tyr
NM_133378.4:c.88102G>T (TTN) NP_596869.4:p.Asp29368Tyr
NM_133432.3:c.68986G>T (TTN) NP_597676.3:p.Asp22996Tyr
NM_133437.4:c.69187G>T (TTN) NP_597681.4:p.Asp23063Tyr
NR_038271.1:n.446+20787C>A (TTN-AS1)
NR_038272.1:n.2043+2062C>A (TTN-AS1)
XM_011511729.1:c.94903G>T (TTN) XP_011510031.1:p.Asp31635Tyr
XM_011511730.1:c.68797G>T (TTN) XP_011510032.1:p.Asp22933Tyr
XM_011511731.1:c.68656G>T (TTN) XP_011510033.1:p.Asp22886Tyr
XM_017004819.1:c.94699G>T (TTN) XP_016860308.1:p.Asp31567Tyr
XM_017004820.1:c.90097G>T (TTN) XP_016860309.1:p.Asp30033Tyr
XM_017004821.1:c.90094G>T (TTN) XP_016860310.1:p.Asp30032Tyr
XM_017004822.1:c.87136G>T (TTN) XP_016860311.1:p.Asp29046Tyr
XM_017004823.1:c.68752G>T (TTN) XP_016860312.1:p.Asp22918Tyr
XM_024453094.1:c.90247G>T (TTN) XP_024308862.1:p.Asp30083Tyr
XM_024453095.1:c.90244G>T (TTN) XP_024308863.1:p.Asp30082Tyr
XM_024453096.1:c.89677G>T (TTN) XP_024308864.1:p.Asp29893Tyr
XM_024453097.1:c.87019G>T (TTN) XP_024308865.1:p.Asp29007Tyr
XM_024453098.1:c.86938G>T (TTN) XP_024308866.1:p.Asp28980Tyr
XM_024453099.1:c.68701G>T (TTN) XP_024308867.1:p.Asp22901Tyr
XM_024453100.1:c.58555G>T (TTN) XP_024308868.1:p.Asp19519Tyr