Canonical Allele Identifier: CA349426896

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537071G>C , CM000664.2:g.178537071G>C GRCh38
NC_000002.11:g.179401798G>C , CM000664.1:g.179401798G>C GRCh37
NC_000002.10:g.179110044G>C NCBI36
NG_011618.3:g.298732C>G , LRG_391:g.298732C>G
NG_051363.1:g.19245G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92334C>G (TTN) ENSP00000343764.6:p.Ile30778Met
ENST00000342175.11:c.73419C>G (TTN) ENSP00000340554.6:p.Ile24473Met
ENST00000359218.10:c.73218C>G (TTN) ENSP00000352154.5:p.Ile24406Met
ENST00000342175.10:c.73419C>G (TTN) ENSP00000340554.6:p.Ile24473Met
ENST00000342992.10:c.92334C>G (TTN) ENSP00000343764.6:p.Ile30778Met
ENST00000359218.9:c.73218C>G (TTN) ENSP00000352154.5:p.Ile24406Met
ENST00000460472.6:c.72843C>G (TTN) ENSP00000434586.1:p.Ile24281Met
ENST00000589042.5:c.100038C>G (TTN) MANE Select ENSP00000467141.1:p.Ile33346Met
ENST00000591111.5:c.95115C>G (TTN) ENSP00000465570.1:p.Ile31705Met
ENST00000615779.4:c.95115C>G (TTN) ENSP00000483597.1:p.Ile31705Met
NM_001256850.1:c.95115C>G (TTN) NP_001243779.1:p.Ile31705Met
NM_001267550.2:c.100038C>G (TTN) MANE Select NP_001254479.2:p.Ile33346Met
NM_003319.4:c.72843C>G (TTN) NP_003310.4:p.Ile24281Met
NM_133378.4:c.92334C>G (TTN) NP_596869.4:p.Ile30778Met
NM_133432.3:c.73218C>G (TTN) NP_597676.3:p.Ile24406Met
NM_133437.4:c.73419C>G (TTN) NP_597681.4:p.Ile24473Met
NR_038271.1:n.446+13435G>C (TTN-AS1)
NR_038272.1:n.317-290G>C (TTN-AS1)
XM_011511729.1:c.99135C>G (TTN) XP_011510031.1:p.Ile33045Met
XM_011511730.1:c.73029C>G (TTN) XP_011510032.1:p.Ile24343Met
XM_011511731.1:c.72888C>G (TTN) XP_011510033.1:p.Ile24296Met
XM_017004819.1:c.98931C>G (TTN) XP_016860308.1:p.Ile32977Met
XM_017004820.1:c.94329C>G (TTN) XP_016860309.1:p.Ile31443Met
XM_017004821.1:c.94326C>G (TTN) XP_016860310.1:p.Ile31442Met
XM_017004822.1:c.91368C>G (TTN) XP_016860311.1:p.Ile30456Met
XM_017004823.1:c.72984C>G (TTN) XP_016860312.1:p.Ile24328Met
XM_024453094.1:c.94479C>G (TTN) XP_024308862.1:p.Ile31493Met
XM_024453095.1:c.94476C>G (TTN) XP_024308863.1:p.Ile31492Met
XM_024453096.1:c.93909C>G (TTN) XP_024308864.1:p.Ile31303Met
XM_024453097.1:c.91251C>G (TTN) XP_024308865.1:p.Ile30417Met
XM_024453098.1:c.91170C>G (TTN) XP_024308866.1:p.Ile30390Met
XM_024453099.1:c.72933C>G (TTN) XP_024308867.1:p.Ile24311Met
XM_024453100.1:c.62787C>G (TTN) XP_024308868.1:p.Ile20929Met