Canonical Allele Identifier: CA349417264

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534055T>G , CM000664.2:g.178534055T>G GRCh38
NC_000002.11:g.179398782T>G , CM000664.1:g.179398782T>G GRCh37
NC_000002.10:g.179107028T>G NCBI36
NG_011618.3:g.301748A>C , LRG_391:g.301748A>C
NG_051363.1:g.16229T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94856A>C (TTN) ENSP00000343764.6:p.Tyr31619Ser
ENST00000342175.11:c.75941A>C (TTN) ENSP00000340554.6:p.Tyr25314Ser
ENST00000359218.10:c.75740A>C (TTN) ENSP00000352154.5:p.Tyr25247Ser
ENST00000342175.10:c.75941A>C (TTN) ENSP00000340554.6:p.Tyr25314Ser
ENST00000342992.10:c.94856A>C (TTN) ENSP00000343764.6:p.Tyr31619Ser
ENST00000359218.9:c.75740A>C (TTN) ENSP00000352154.5:p.Tyr25247Ser
ENST00000460472.6:c.75365A>C (TTN) ENSP00000434586.1:p.Tyr25122Ser
ENST00000589042.5:c.102560A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr34187Ser
ENST00000591111.5:c.97637A>C (TTN) ENSP00000465570.1:p.Tyr32546Ser
ENST00000615779.4:c.97637A>C (TTN) ENSP00000483597.1:p.Tyr32546Ser
NM_001256850.1:c.97637A>C (TTN) NP_001243779.1:p.Tyr32546Ser
NM_001267550.2:c.102560A>C (TTN) MANE Select NP_001254479.2:p.Tyr34187Ser
NM_003319.4:c.75365A>C (TTN) NP_003310.4:p.Tyr25122Ser
NM_133378.4:c.94856A>C (TTN) NP_596869.4:p.Tyr31619Ser
NM_133432.3:c.75740A>C (TTN) NP_597676.3:p.Tyr25247Ser
NM_133437.4:c.75941A>C (TTN) NP_597681.4:p.Tyr25314Ser
NR_038271.1:n.446+10419T>G (TTN-AS1)
NR_038272.1:n.220-1677T>G (TTN-AS1)
XM_011511729.1:c.101657A>C (TTN) XP_011510031.1:p.Tyr33886Ser
XM_011511730.1:c.75551A>C (TTN) XP_011510032.1:p.Tyr25184Ser
XM_011511731.1:c.75410A>C (TTN) XP_011510033.1:p.Tyr25137Ser
XM_017004819.1:c.101453A>C (TTN) XP_016860308.1:p.Tyr33818Ser
XM_017004820.1:c.96851A>C (TTN) XP_016860309.1:p.Tyr32284Ser
XM_017004821.1:c.96848A>C (TTN) XP_016860310.1:p.Tyr32283Ser
XM_017004822.1:c.93890A>C (TTN) XP_016860311.1:p.Tyr31297Ser
XM_017004823.1:c.75506A>C (TTN) XP_016860312.1:p.Tyr25169Ser
XM_024453094.1:c.97001A>C (TTN) XP_024308862.1:p.Tyr32334Ser
XM_024453095.1:c.96998A>C (TTN) XP_024308863.1:p.Tyr32333Ser
XM_024453096.1:c.96431A>C (TTN) XP_024308864.1:p.Tyr32144Ser
XM_024453097.1:c.93773A>C (TTN) XP_024308865.1:p.Tyr31258Ser
XM_024453098.1:c.93692A>C (TTN) XP_024308866.1:p.Tyr31231Ser
XM_024453099.1:c.75455A>C (TTN) XP_024308867.1:p.Tyr25152Ser
XM_024453100.1:c.65309A>C (TTN) XP_024308868.1:p.Tyr21770Ser