Canonical Allele Identifier: CA349417265

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94856A>T (TTN) ENSP00000343764.6:p.Tyr31619Phe
ENST00000342175.11:c.75941A>T (TTN) ENSP00000340554.6:p.Tyr25314Phe
ENST00000359218.10:c.75740A>T (TTN) ENSP00000352154.5:p.Tyr25247Phe
ENST00000342175.10:c.75941A>T (TTN) ENSP00000340554.6:p.Tyr25314Phe
ENST00000342992.10:c.94856A>T (TTN) ENSP00000343764.6:p.Tyr31619Phe
ENST00000359218.9:c.75740A>T (TTN) ENSP00000352154.5:p.Tyr25247Phe
ENST00000460472.6:c.75365A>T (TTN) ENSP00000434586.1:p.Tyr25122Phe
ENST00000589042.5:c.102560A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr34187Phe
ENST00000591111.5:c.97637A>T (TTN) ENSP00000465570.1:p.Tyr32546Phe
ENST00000615779.4:c.97637A>T (TTN) ENSP00000483597.1:p.Tyr32546Phe
NM_001256850.1:c.97637A>T (TTN) NP_001243779.1:p.Tyr32546Phe
NM_001267550.2:c.102560A>T (TTN) MANE Select NP_001254479.2:p.Tyr34187Phe
NM_003319.4:c.75365A>T (TTN) NP_003310.4:p.Tyr25122Phe
NM_133378.4:c.94856A>T (TTN) NP_596869.4:p.Tyr31619Phe
NM_133432.3:c.75740A>T (TTN) NP_597676.3:p.Tyr25247Phe
NM_133437.4:c.75941A>T (TTN) NP_597681.4:p.Tyr25314Phe
NR_038271.1:n.446+10419T>A (TTN-AS1)
NR_038272.1:n.220-1677T>A (TTN-AS1)
XM_011511729.1:c.101657A>T (TTN) XP_011510031.1:p.Tyr33886Phe
XM_011511730.1:c.75551A>T (TTN) XP_011510032.1:p.Tyr25184Phe
XM_011511731.1:c.75410A>T (TTN) XP_011510033.1:p.Tyr25137Phe
XM_017004819.1:c.101453A>T (TTN) XP_016860308.1:p.Tyr33818Phe
XM_017004820.1:c.96851A>T (TTN) XP_016860309.1:p.Tyr32284Phe
XM_017004821.1:c.96848A>T (TTN) XP_016860310.1:p.Tyr32283Phe
XM_017004822.1:c.93890A>T (TTN) XP_016860311.1:p.Tyr31297Phe
XM_017004823.1:c.75506A>T (TTN) XP_016860312.1:p.Tyr25169Phe
XM_024453094.1:c.97001A>T (TTN) XP_024308862.1:p.Tyr32334Phe
XM_024453095.1:c.96998A>T (TTN) XP_024308863.1:p.Tyr32333Phe
XM_024453096.1:c.96431A>T (TTN) XP_024308864.1:p.Tyr32144Phe
XM_024453097.1:c.93773A>T (TTN) XP_024308865.1:p.Tyr31258Phe
XM_024453098.1:c.93692A>T (TTN) XP_024308866.1:p.Tyr31231Phe
XM_024453099.1:c.75455A>T (TTN) XP_024308867.1:p.Tyr25152Phe
XM_024453100.1:c.65309A>T (TTN) XP_024308868.1:p.Tyr21770Phe