Canonical Allele Identifier: CA349454294

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544095C>G , CM000664.2:g.178544095C>G GRCh38
NC_000002.11:g.179408822C>G , CM000664.1:g.179408822C>G GRCh37
NC_000002.10:g.179117068C>G NCBI36
NG_011618.3:g.291708G>C , LRG_391:g.291708G>C
NG_051363.1:g.26269C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88345G>C (TTN) ENSP00000343764.6:p.Ala29449Pro
ENST00000342175.11:c.69430G>C (TTN) ENSP00000340554.6:p.Ala23144Pro
ENST00000359218.10:c.69229G>C (TTN) ENSP00000352154.5:p.Ala23077Pro
ENST00000342175.10:c.69430G>C (TTN) ENSP00000340554.6:p.Ala23144Pro
ENST00000342992.10:c.88345G>C (TTN) ENSP00000343764.6:p.Ala29449Pro
ENST00000359218.9:c.69229G>C (TTN) ENSP00000352154.5:p.Ala23077Pro
ENST00000460472.6:c.68854G>C (TTN) ENSP00000434586.1:p.Ala22952Pro
ENST00000589042.5:c.96049G>C (TTN) MANE Select ENSP00000467141.1:p.Ala32017Pro
ENST00000591111.5:c.91126G>C (TTN) ENSP00000465570.1:p.Ala30376Pro
ENST00000615779.4:c.91126G>C (TTN) ENSP00000483597.1:p.Ala30376Pro
NM_001256850.1:c.91126G>C (TTN) NP_001243779.1:p.Ala30376Pro
NM_001267550.2:c.96049G>C (TTN) MANE Select NP_001254479.2:p.Ala32017Pro
NM_003319.4:c.68854G>C (TTN) NP_003310.4:p.Ala22952Pro
NM_133378.4:c.88345G>C (TTN) NP_596869.4:p.Ala29449Pro
NM_133432.3:c.69229G>C (TTN) NP_597676.3:p.Ala23077Pro
NM_133437.4:c.69430G>C (TTN) NP_597681.4:p.Ala23144Pro
NR_038271.1:n.446+20459C>G (TTN-AS1)
NR_038272.1:n.2043+1734C>G (TTN-AS1)
XM_011511729.1:c.95146G>C (TTN) XP_011510031.1:p.Ala31716Pro
XM_011511730.1:c.69040G>C (TTN) XP_011510032.1:p.Ala23014Pro
XM_011511731.1:c.68899G>C (TTN) XP_011510033.1:p.Ala22967Pro
XM_017004819.1:c.94942G>C (TTN) XP_016860308.1:p.Ala31648Pro
XM_017004820.1:c.90340G>C (TTN) XP_016860309.1:p.Ala30114Pro
XM_017004821.1:c.90337G>C (TTN) XP_016860310.1:p.Ala30113Pro
XM_017004822.1:c.87379G>C (TTN) XP_016860311.1:p.Ala29127Pro
XM_017004823.1:c.68995G>C (TTN) XP_016860312.1:p.Ala22999Pro
XM_024453094.1:c.90490G>C (TTN) XP_024308862.1:p.Ala30164Pro
XM_024453095.1:c.90487G>C (TTN) XP_024308863.1:p.Ala30163Pro
XM_024453096.1:c.89920G>C (TTN) XP_024308864.1:p.Ala29974Pro
XM_024453097.1:c.87262G>C (TTN) XP_024308865.1:p.Ala29088Pro
XM_024453098.1:c.87181G>C (TTN) XP_024308866.1:p.Ala29061Pro
XM_024453099.1:c.68944G>C (TTN) XP_024308867.1:p.Ala22982Pro
XM_024453100.1:c.58798G>C (TTN) XP_024308868.1:p.Ala19600Pro