Canonical Allele Identifier: CA349451029

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543906C>G , CM000664.2:g.178543906C>G GRCh38
NC_000002.11:g.179408633C>G , CM000664.1:g.179408633C>G GRCh37
NC_000002.10:g.179116879C>G NCBI36
NG_011618.3:g.291897G>C , LRG_391:g.291897G>C
NG_051363.1:g.26080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88534G>C (TTN) ENSP00000343764.6:p.Ala29512Pro
ENST00000342175.11:c.69619G>C (TTN) ENSP00000340554.6:p.Ala23207Pro
ENST00000359218.10:c.69418G>C (TTN) ENSP00000352154.5:p.Ala23140Pro
ENST00000342175.10:c.69619G>C (TTN) ENSP00000340554.6:p.Ala23207Pro
ENST00000342992.10:c.88534G>C (TTN) ENSP00000343764.6:p.Ala29512Pro
ENST00000359218.9:c.69418G>C (TTN) ENSP00000352154.5:p.Ala23140Pro
ENST00000460472.6:c.69043G>C (TTN) ENSP00000434586.1:p.Ala23015Pro
ENST00000589042.5:c.96238G>C (TTN) MANE Select ENSP00000467141.1:p.Ala32080Pro
ENST00000591111.5:c.91315G>C (TTN) ENSP00000465570.1:p.Ala30439Pro
ENST00000615779.4:c.91315G>C (TTN) ENSP00000483597.1:p.Ala30439Pro
NM_001256850.1:c.91315G>C (TTN) NP_001243779.1:p.Ala30439Pro
NM_001267550.2:c.96238G>C (TTN) MANE Select NP_001254479.2:p.Ala32080Pro
NM_003319.4:c.69043G>C (TTN) NP_003310.4:p.Ala23015Pro
NM_133378.4:c.88534G>C (TTN) NP_596869.4:p.Ala29512Pro
NM_133432.3:c.69418G>C (TTN) NP_597676.3:p.Ala23140Pro
NM_133437.4:c.69619G>C (TTN) NP_597681.4:p.Ala23207Pro
NR_038271.1:n.446+20270C>G (TTN-AS1)
NR_038272.1:n.2043+1545C>G (TTN-AS1)
XM_011511729.1:c.95335G>C (TTN) XP_011510031.1:p.Ala31779Pro
XM_011511730.1:c.69229G>C (TTN) XP_011510032.1:p.Ala23077Pro
XM_011511731.1:c.69088G>C (TTN) XP_011510033.1:p.Ala23030Pro
XM_017004819.1:c.95131G>C (TTN) XP_016860308.1:p.Ala31711Pro
XM_017004820.1:c.90529G>C (TTN) XP_016860309.1:p.Ala30177Pro
XM_017004821.1:c.90526G>C (TTN) XP_016860310.1:p.Ala30176Pro
XM_017004822.1:c.87568G>C (TTN) XP_016860311.1:p.Ala29190Pro
XM_017004823.1:c.69184G>C (TTN) XP_016860312.1:p.Ala23062Pro
XM_024453094.1:c.90679G>C (TTN) XP_024308862.1:p.Ala30227Pro
XM_024453095.1:c.90676G>C (TTN) XP_024308863.1:p.Ala30226Pro
XM_024453096.1:c.90109G>C (TTN) XP_024308864.1:p.Ala30037Pro
XM_024453097.1:c.87451G>C (TTN) XP_024308865.1:p.Ala29151Pro
XM_024453098.1:c.87370G>C (TTN) XP_024308866.1:p.Ala29124Pro
XM_024453099.1:c.69133G>C (TTN) XP_024308867.1:p.Ala23045Pro
XM_024453100.1:c.58987G>C (TTN) XP_024308868.1:p.Ala19663Pro