Canonical Allele Identifier: CA349427939

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537639G>T , CM000664.2:g.178537639G>T GRCh38
NC_000002.11:g.179402366G>T , CM000664.1:g.179402366G>T GRCh37
NC_000002.10:g.179110612G>T NCBI36
NG_011618.3:g.298164C>A , LRG_391:g.298164C>A
NG_051363.1:g.19813G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91864C>A (TTN) ENSP00000343764.6:p.Leu30622Met
ENST00000342175.11:c.72949C>A (TTN) ENSP00000340554.6:p.Leu24317Met
ENST00000359218.10:c.72748C>A (TTN) ENSP00000352154.5:p.Leu24250Met
ENST00000342175.10:c.72949C>A (TTN) ENSP00000340554.6:p.Leu24317Met
ENST00000342992.10:c.91864C>A (TTN) ENSP00000343764.6:p.Leu30622Met
ENST00000359218.9:c.72748C>A (TTN) ENSP00000352154.5:p.Leu24250Met
ENST00000460472.6:c.72373C>A (TTN) ENSP00000434586.1:p.Leu24125Met
ENST00000589042.5:c.99568C>A (TTN) MANE Select ENSP00000467141.1:p.Leu33190Met
ENST00000591111.5:c.94645C>A (TTN) ENSP00000465570.1:p.Leu31549Met
ENST00000615779.4:c.94645C>A (TTN) ENSP00000483597.1:p.Leu31549Met
NM_001256850.1:c.94645C>A (TTN) NP_001243779.1:p.Leu31549Met
NM_001267550.2:c.99568C>A (TTN) MANE Select NP_001254479.2:p.Leu33190Met
NM_003319.4:c.72373C>A (TTN) NP_003310.4:p.Leu24125Met
NM_133378.4:c.91864C>A (TTN) NP_596869.4:p.Leu30622Met
NM_133432.3:c.72748C>A (TTN) NP_597676.3:p.Leu24250Met
NM_133437.4:c.72949C>A (TTN) NP_597681.4:p.Leu24317Met
NR_038271.1:n.446+14003G>T (TTN-AS1)
NR_038272.1:n.595G>T (TTN-AS1)
XM_011511729.1:c.98665C>A (TTN) XP_011510031.1:p.Leu32889Met
XM_011511730.1:c.72559C>A (TTN) XP_011510032.1:p.Leu24187Met
XM_011511731.1:c.72418C>A (TTN) XP_011510033.1:p.Leu24140Met
XM_017004819.1:c.98461C>A (TTN) XP_016860308.1:p.Leu32821Met
XM_017004820.1:c.93859C>A (TTN) XP_016860309.1:p.Leu31287Met
XM_017004821.1:c.93856C>A (TTN) XP_016860310.1:p.Leu31286Met
XM_017004822.1:c.90898C>A (TTN) XP_016860311.1:p.Leu30300Met
XM_017004823.1:c.72514C>A (TTN) XP_016860312.1:p.Leu24172Met
XM_024453094.1:c.94009C>A (TTN) XP_024308862.1:p.Leu31337Met
XM_024453095.1:c.94006C>A (TTN) XP_024308863.1:p.Leu31336Met
XM_024453096.1:c.93439C>A (TTN) XP_024308864.1:p.Leu31147Met
XM_024453097.1:c.90781C>A (TTN) XP_024308865.1:p.Leu30261Met
XM_024453098.1:c.90700C>A (TTN) XP_024308866.1:p.Leu30234Met
XM_024453099.1:c.72463C>A (TTN) XP_024308867.1:p.Leu24155Met
XM_024453100.1:c.62317C>A (TTN) XP_024308868.1:p.Leu20773Met