Canonical Allele Identifier: CA1985058
Community Standard Title: NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178529071C>G , CM000664.2:g.178529071C>G GRCh38
NC_000002.11:g.179393798C>G , CM000664.1:g.179393798C>G GRCh37
NC_000002.10:g.179102044C>G NCBI36
NG_011618.3:g.306732G>C , LRG_391:g.306732G>C
NG_051363.1:g.11245C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106680G>C (TTN) MANE Select NP_001254479.2:p.Lys35560Asn
ENST00000589042.5:c.106680G>C (TTN) MANE Select ENSP00000467141.1:p.Lys35560Asn
NM_001256850.1:c.101757G>C (TTN) NP_001243779.1:p.Lys33919Asn
NM_003319.4:c.79485G>C (TTN) NP_003310.4:p.Lys26495Asn
NM_133378.4:c.98976G>C (TTN) NP_596869.4:p.Lys32992Asn
NM_133432.3:c.79860G>C (TTN) NP_597676.3:p.Lys26620Asn
NM_133437.4:c.80061G>C (TTN) NP_597681.4:p.Lys26687Asn
NR_038271.1:n.446+5435C>G (TTN-AS1)
NR_038272.1:n.219+5435C>G (TTN-AS1)
ENST00000342175.10:c.80061G>C (TTN) ENSP00000340554.6:p.Lys26687Asn
ENST00000342175.11:c.80061G>C (TTN) ENSP00000340554.6:p.Lys26687Asn
ENST00000342992.10:c.98976G>C (TTN) ENSP00000343764.6:p.Lys32992Asn
ENST00000342992.11:c.98976G>C (TTN) ENSP00000343764.6:p.Lys32992Asn
ENST00000359218.10:c.79860G>C (TTN) ENSP00000352154.5:p.Lys26620Asn
ENST00000359218.9:c.79860G>C (TTN) ENSP00000352154.5:p.Lys26620Asn
ENST00000460472.6:c.79485G>C (TTN) ENSP00000434586.1:p.Lys26495Asn
ENST00000591111.5:c.101757G>C (TTN) ENSP00000465570.1:p.Lys33919Asn
ENST00000615779.4:c.101757G>C (TTN) ENSP00000483597.1:p.Lys33919Asn
XM_011511729.1:c.105777G>C (TTN) XP_011510031.1:p.Lys35259Asn
XM_011511730.1:c.79671G>C (TTN) XP_011510032.1:p.Lys26557Asn
XM_011511731.1:c.79530G>C (TTN) XP_011510033.1:p.Lys26510Asn
XM_017004819.1:c.105573G>C (TTN) XP_016860308.1:p.Lys35191Asn
XM_017004820.1:c.100971G>C (TTN) XP_016860309.1:p.Lys33657Asn
XM_017004821.1:c.100968G>C (TTN) XP_016860310.1:p.Lys33656Asn
XM_017004822.1:c.98010G>C (TTN) XP_016860311.1:p.Lys32670Asn
XM_017004823.1:c.79626G>C (TTN) XP_016860312.1:p.Lys26542Asn
XM_024453094.1:c.101121G>C (TTN) XP_024308862.1:p.Lys33707Asn
XM_024453095.1:c.101118G>C (TTN) XP_024308863.1:p.Lys33706Asn
XM_024453096.1:c.100551G>C (TTN) XP_024308864.1:p.Lys33517Asn
XM_024453097.1:c.97893G>C (TTN) XP_024308865.1:p.Lys32631Asn
XM_024453098.1:c.97812G>C (TTN) XP_024308866.1:p.Lys32604Asn
XM_024453099.1:c.79575G>C (TTN) XP_024308867.1:p.Lys26525Asn
XM_024453100.1:c.69429G>C (TTN) XP_024308868.1:p.Lys23143Asn