Canonical Allele Identifier: CA349655239
Community Standard Title: NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634500G>C , CM000664.2:g.178634500G>C GRCh38
NC_000002.11:g.179499227G>C , CM000664.1:g.179499227G>C GRCh37
NC_000002.10:g.179207472G>C NCBI36
NG_011618.3:g.201303C>G , LRG_391:g.201303C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42281C>G MANE Select NP_001254479.2:p.Ser14094Ter
ENST00000589042.5:c.42281C>G MANE Select ENSP00000467141.1:p.Ser14094Ter
NM_001256850.1:c.37358C>G NP_001243779.1:p.Ser12453Ter
NM_003319.4:c.15086C>G NP_003310.4:p.Ser5029Ter
NM_133378.4:c.34577C>G NP_596869.4:p.Ser11526Ter
NM_133432.3:c.15461C>G NP_597676.3:p.Ser5154Ter
NM_133437.4:c.15662C>G NP_597681.4:p.Ser5221Ter
ENST00000342175.10:c.15662C>G ENSP00000340554.6:p.Ser5221Ter
ENST00000342175.11:c.15662C>G ENSP00000340554.6:p.Ser5221Ter
ENST00000342992.10:c.34577C>G ENSP00000343764.6:p.Ser11526Ter
ENST00000342992.11:c.34577C>G ENSP00000343764.6:p.Ser11526Ter
ENST00000359218.10:c.15461C>G ENSP00000352154.5:p.Ser5154Ter
ENST00000359218.9:c.15461C>G ENSP00000352154.5:p.Ser5154Ter
ENST00000460472.6:c.15086C>G ENSP00000434586.1:p.Ser5029Ter
ENST00000591111.5:c.37358C>G ENSP00000465570.1:p.Ser12453Ter
ENST00000615779.4:c.37358C>G ENSP00000483597.1:p.Ser12453Ter
XM_011511729.1:c.41378C>G XP_011510031.1:p.Ser13793Ter
XM_011511730.1:c.15272C>G XP_011510032.1:p.Ser5091Ter
XM_011511731.1:c.15131C>G XP_011510033.1:p.Ser5044Ter
XM_017004819.1:c.41174C>G XP_016860308.1:p.Ser13725Ter
XM_017004820.1:c.36572C>G XP_016860309.1:p.Ser12191Ter
XM_017004821.1:c.36569C>G XP_016860310.1:p.Ser12190Ter
XM_017004822.1:c.33611C>G XP_016860311.1:p.Ser11204Ter
XM_017004823.1:c.15227C>G XP_016860312.1:p.Ser5076Ter
XM_024453094.1:c.36722C>G XP_024308862.1:p.Ser12241Ter
XM_024453095.1:c.36719C>G XP_024308863.1:p.Ser12240Ter
XM_024453096.1:c.36152C>G XP_024308864.1:p.Ser12051Ter
XM_024453097.1:c.33494C>G XP_024308865.1:p.Ser11165Ter
XM_024453098.1:c.33413C>G XP_024308866.1:p.Ser11138Ter
XM_024453099.1:c.15176C>G XP_024308867.1:p.Ser5059Ter
XM_024453100.1:c.5030C>G XP_024308868.1:p.Ser1677Ter