Canonical Allele Identifier: CA349648622

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574044T>G , CM000664.2:g.178574044T>G GRCh38
NC_000002.11:g.179438771T>G , CM000664.1:g.179438771T>G GRCh37
NC_000002.10:g.179147017T>G NCBI36
NG_011618.3:g.261759A>C , LRG_391:g.261759A>C
NG_051363.1:g.56218T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64384A>C (TTN) ENSP00000343764.6:p.Lys21462Gln
ENST00000342175.11:c.45469A>C (TTN) ENSP00000340554.6:p.Lys15157Gln
ENST00000359218.10:c.45268A>C (TTN) ENSP00000352154.5:p.Lys15090Gln
ENST00000342175.10:c.45469A>C (TTN) ENSP00000340554.6:p.Lys15157Gln
ENST00000342992.10:c.64384A>C (TTN) ENSP00000343764.6:p.Lys21462Gln
ENST00000359218.9:c.45268A>C (TTN) ENSP00000352154.5:p.Lys15090Gln
ENST00000460472.6:c.44893A>C (TTN) ENSP00000434586.1:p.Lys14965Gln
ENST00000589042.5:c.72088A>C (TTN) MANE Select ENSP00000467141.1:p.Lys24030Gln
ENST00000591111.5:c.67165A>C (TTN) ENSP00000465570.1:p.Lys22389Gln
ENST00000615779.4:c.67165A>C (TTN) ENSP00000483597.1:p.Lys22389Gln
NM_001256850.1:c.67165A>C (TTN) NP_001243779.1:p.Lys22389Gln
NM_001267550.2:c.72088A>C (TTN) MANE Select NP_001254479.2:p.Lys24030Gln
NM_003319.4:c.44893A>C (TTN) NP_003310.4:p.Lys14965Gln
NM_133378.4:c.64384A>C (TTN) NP_596869.4:p.Lys21462Gln
NM_133432.3:c.45268A>C (TTN) NP_597676.3:p.Lys15090Gln
NM_133437.4:c.45469A>C (TTN) NP_597681.4:p.Lys15157Gln
NR_038271.1:n.596+2595T>G (TTN-AS1)
NR_038272.1:n.2044-8528T>G (TTN-AS1)
XM_011511729.1:c.71185A>C (TTN) XP_011510031.1:p.Lys23729Gln
XM_011511730.1:c.45079A>C (TTN) XP_011510032.1:p.Lys15027Gln
XM_011511731.1:c.44938A>C (TTN) XP_011510033.1:p.Lys14980Gln
XM_017004819.1:c.70981A>C (TTN) XP_016860308.1:p.Lys23661Gln
XM_017004820.1:c.66379A>C (TTN) XP_016860309.1:p.Lys22127Gln
XM_017004821.1:c.66376A>C (TTN) XP_016860310.1:p.Lys22126Gln
XM_017004822.1:c.63418A>C (TTN) XP_016860311.1:p.Lys21140Gln
XM_017004823.1:c.45034A>C (TTN) XP_016860312.1:p.Lys15012Gln
XM_024453094.1:c.66529A>C (TTN) XP_024308862.1:p.Lys22177Gln
XM_024453095.1:c.66526A>C (TTN) XP_024308863.1:p.Lys22176Gln
XM_024453096.1:c.65959A>C (TTN) XP_024308864.1:p.Lys21987Gln
XM_024453097.1:c.63301A>C (TTN) XP_024308865.1:p.Lys21101Gln
XM_024453098.1:c.63220A>C (TTN) XP_024308866.1:p.Lys21074Gln
XM_024453099.1:c.44983A>C (TTN) XP_024308867.1:p.Lys14995Gln
XM_024453100.1:c.34837A>C (TTN) XP_024308868.1:p.Lys11613Gln