Canonical Allele Identifier: CA349434879

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540071G>C , CM000664.2:g.178540071G>C GRCh38
NC_000002.11:g.179404798G>C , CM000664.1:g.179404798G>C GRCh37
NC_000002.10:g.179113044G>C NCBI36
NG_011618.3:g.295732C>G , LRG_391:g.295732C>G
NG_051363.1:g.22245G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90391C>G (TTN) ENSP00000343764.6:p.Leu30131Val
ENST00000342175.11:c.71476C>G (TTN) ENSP00000340554.6:p.Leu23826Val
ENST00000359218.10:c.71275C>G (TTN) ENSP00000352154.5:p.Leu23759Val
ENST00000342175.10:c.71476C>G (TTN) ENSP00000340554.6:p.Leu23826Val
ENST00000342992.10:c.90391C>G (TTN) ENSP00000343764.6:p.Leu30131Val
ENST00000359218.9:c.71275C>G (TTN) ENSP00000352154.5:p.Leu23759Val
ENST00000460472.6:c.70900C>G (TTN) ENSP00000434586.1:p.Leu23634Val
ENST00000589042.5:c.98095C>G (TTN) MANE Select ENSP00000467141.1:p.Leu32699Val
ENST00000591111.5:c.93172C>G (TTN) ENSP00000465570.1:p.Leu31058Val
ENST00000615779.4:c.93172C>G (TTN) ENSP00000483597.1:p.Leu31058Val
NM_001256850.1:c.93172C>G (TTN) NP_001243779.1:p.Leu31058Val
NM_001267550.2:c.98095C>G (TTN) MANE Select NP_001254479.2:p.Leu32699Val
NM_003319.4:c.70900C>G (TTN) NP_003310.4:p.Leu23634Val
NM_133378.4:c.90391C>G (TTN) NP_596869.4:p.Leu30131Val
NM_133432.3:c.71275C>G (TTN) NP_597676.3:p.Leu23759Val
NM_133437.4:c.71476C>G (TTN) NP_597681.4:p.Leu23826Val
NR_038271.1:n.446+16435G>C (TTN-AS1)
NR_038272.1:n.1841-36G>C (TTN-AS1)
XM_011511729.1:c.97192C>G (TTN) XP_011510031.1:p.Leu32398Val
XM_011511730.1:c.71086C>G (TTN) XP_011510032.1:p.Leu23696Val
XM_011511731.1:c.70945C>G (TTN) XP_011510033.1:p.Leu23649Val
XM_017004819.1:c.96988C>G (TTN) XP_016860308.1:p.Leu32330Val
XM_017004820.1:c.92386C>G (TTN) XP_016860309.1:p.Leu30796Val
XM_017004821.1:c.92383C>G (TTN) XP_016860310.1:p.Leu30795Val
XM_017004822.1:c.89425C>G (TTN) XP_016860311.1:p.Leu29809Val
XM_017004823.1:c.71041C>G (TTN) XP_016860312.1:p.Leu23681Val
XM_024453094.1:c.92536C>G (TTN) XP_024308862.1:p.Leu30846Val
XM_024453095.1:c.92533C>G (TTN) XP_024308863.1:p.Leu30845Val
XM_024453096.1:c.91966C>G (TTN) XP_024308864.1:p.Leu30656Val
XM_024453097.1:c.89308C>G (TTN) XP_024308865.1:p.Leu29770Val
XM_024453098.1:c.89227C>G (TTN) XP_024308866.1:p.Leu29743Val
XM_024453099.1:c.70990C>G (TTN) XP_024308867.1:p.Leu23664Val
XM_024453100.1:c.60844C>G (TTN) XP_024308868.1:p.Leu20282Val