Canonical Allele Identifier: CA349611931

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568931A>C , CM000664.2:g.178568931A>C GRCh38
NC_000002.11:g.179433658A>C , CM000664.1:g.179433658A>C GRCh37
NC_000002.10:g.179141904A>C NCBI36
NG_011618.3:g.266872T>G , LRG_391:g.266872T>G
NG_051363.1:g.51105A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69497T>G (TTN) ENSP00000343764.6:p.Ile23166Ser
ENST00000342175.11:c.50582T>G (TTN) ENSP00000340554.6:p.Ile16861Ser
ENST00000359218.10:c.50381T>G (TTN) ENSP00000352154.5:p.Ile16794Ser
ENST00000342175.10:c.50582T>G (TTN) ENSP00000340554.6:p.Ile16861Ser
ENST00000342992.10:c.69497T>G (TTN) ENSP00000343764.6:p.Ile23166Ser
ENST00000359218.9:c.50381T>G (TTN) ENSP00000352154.5:p.Ile16794Ser
ENST00000460472.6:c.50006T>G (TTN) ENSP00000434586.1:p.Ile16669Ser
ENST00000589042.5:c.77201T>G (TTN) MANE Select ENSP00000467141.1:p.Ile25734Ser
ENST00000591111.5:c.72278T>G (TTN) ENSP00000465570.1:p.Ile24093Ser
ENST00000615779.4:c.72278T>G (TTN) ENSP00000483597.1:p.Ile24093Ser
NM_001256850.1:c.72278T>G (TTN) NP_001243779.1:p.Ile24093Ser
NM_001267550.2:c.77201T>G (TTN) MANE Select NP_001254479.2:p.Ile25734Ser
NM_003319.4:c.50006T>G (TTN) NP_003310.4:p.Ile16669Ser
NM_133378.4:c.69497T>G (TTN) NP_596869.4:p.Ile23166Ser
NM_133432.3:c.50381T>G (TTN) NP_597676.3:p.Ile16794Ser
NM_133437.4:c.50582T>G (TTN) NP_597681.4:p.Ile16861Ser
NR_038271.1:n.447-2369A>C (TTN-AS1)
NR_038272.1:n.2044-13641A>C (TTN-AS1)
XM_011511729.1:c.76298T>G (TTN) XP_011510031.1:p.Ile25433Ser
XM_011511730.1:c.50192T>G (TTN) XP_011510032.1:p.Ile16731Ser
XM_011511731.1:c.50051T>G (TTN) XP_011510033.1:p.Ile16684Ser
XM_017004819.1:c.76094T>G (TTN) XP_016860308.1:p.Ile25365Ser
XM_017004820.1:c.71492T>G (TTN) XP_016860309.1:p.Ile23831Ser
XM_017004821.1:c.71489T>G (TTN) XP_016860310.1:p.Ile23830Ser
XM_017004822.1:c.68531T>G (TTN) XP_016860311.1:p.Ile22844Ser
XM_017004823.1:c.50147T>G (TTN) XP_016860312.1:p.Ile16716Ser
XM_024453094.1:c.71642T>G (TTN) XP_024308862.1:p.Ile23881Ser
XM_024453095.1:c.71639T>G (TTN) XP_024308863.1:p.Ile23880Ser
XM_024453096.1:c.71072T>G (TTN) XP_024308864.1:p.Ile23691Ser
XM_024453097.1:c.68414T>G (TTN) XP_024308865.1:p.Ile22805Ser
XM_024453098.1:c.68333T>G (TTN) XP_024308866.1:p.Ile22778Ser
XM_024453099.1:c.50096T>G (TTN) XP_024308867.1:p.Ile16699Ser
XM_024453100.1:c.39950T>G (TTN) XP_024308868.1:p.Ile13317Ser