Canonical Allele Identifier: CA349405734

Linked Data

dbSNP Id: rs1558983295

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530242T>C , CM000664.2:g.178530242T>C GRCh38
NC_000002.11:g.179394969T>C , CM000664.1:g.179394969T>C GRCh37
NC_000002.10:g.179103215T>C NCBI36
NG_011618.3:g.305561A>G , LRG_391:g.305561A>G
NG_051363.1:g.12416T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98669A>G (TTN) ENSP00000343764.6:p.Lys32890Arg
ENST00000342175.11:c.79754A>G (TTN) ENSP00000340554.6:p.Lys26585Arg
ENST00000359218.10:c.79553A>G (TTN) ENSP00000352154.5:p.Lys26518Arg
ENST00000342175.10:c.79754A>G (TTN) ENSP00000340554.6:p.Lys26585Arg
ENST00000342992.10:c.98669A>G (TTN) ENSP00000343764.6:p.Lys32890Arg
ENST00000359218.9:c.79553A>G (TTN) ENSP00000352154.5:p.Lys26518Arg
ENST00000460472.6:c.79178A>G (TTN) ENSP00000434586.1:p.Lys26393Arg
ENST00000589042.5:c.106373A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35458Arg
ENST00000591111.5:c.101450A>G (TTN) ENSP00000465570.1:p.Lys33817Arg
ENST00000615779.4:c.101450A>G (TTN) ENSP00000483597.1:p.Lys33817Arg
NM_001256850.1:c.101450A>G (TTN) NP_001243779.1:p.Lys33817Arg
NM_001267550.2:c.106373A>G (TTN) MANE Select NP_001254479.2:p.Lys35458Arg
NM_003319.4:c.79178A>G (TTN) NP_003310.4:p.Lys26393Arg
NM_133378.4:c.98669A>G (TTN) NP_596869.4:p.Lys32890Arg
NM_133432.3:c.79553A>G (TTN) NP_597676.3:p.Lys26518Arg
NM_133437.4:c.79754A>G (TTN) NP_597681.4:p.Lys26585Arg
NR_038271.1:n.446+6606T>C (TTN-AS1)
NR_038272.1:n.220-5490T>C (TTN-AS1)
XM_011511729.1:c.105470A>G (TTN) XP_011510031.1:p.Lys35157Arg
XM_011511730.1:c.79364A>G (TTN) XP_011510032.1:p.Lys26455Arg
XM_011511731.1:c.79223A>G (TTN) XP_011510033.1:p.Lys26408Arg
XM_017004819.1:c.105266A>G (TTN) XP_016860308.1:p.Lys35089Arg
XM_017004820.1:c.100664A>G (TTN) XP_016860309.1:p.Lys33555Arg
XM_017004821.1:c.100661A>G (TTN) XP_016860310.1:p.Lys33554Arg
XM_017004822.1:c.97703A>G (TTN) XP_016860311.1:p.Lys32568Arg
XM_017004823.1:c.79319A>G (TTN) XP_016860312.1:p.Lys26440Arg
XM_024453094.1:c.100814A>G (TTN) XP_024308862.1:p.Lys33605Arg
XM_024453095.1:c.100811A>G (TTN) XP_024308863.1:p.Lys33604Arg
XM_024453096.1:c.100244A>G (TTN) XP_024308864.1:p.Lys33415Arg
XM_024453097.1:c.97586A>G (TTN) XP_024308865.1:p.Lys32529Arg
XM_024453098.1:c.97505A>G (TTN) XP_024308866.1:p.Lys32502Arg
XM_024453099.1:c.79268A>G (TTN) XP_024308867.1:p.Lys26423Arg
XM_024453100.1:c.69122A>G (TTN) XP_024308868.1:p.Lys23041Arg