Canonical Allele Identifier: CA349411686

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532158G>C , CM000664.2:g.178532158G>C GRCh38
NC_000002.11:g.179396885G>C , CM000664.1:g.179396885G>C GRCh37
NC_000002.10:g.179105131G>C NCBI36
NG_011618.3:g.303645C>G , LRG_391:g.303645C>G
NG_051363.1:g.14332G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96753C>G (TTN) ENSP00000343764.6:p.Tyr32251Ter
ENST00000342175.11:c.77838C>G (TTN) ENSP00000340554.6:p.Tyr25946Ter
ENST00000359218.10:c.77637C>G (TTN) ENSP00000352154.5:p.Tyr25879Ter
ENST00000342175.10:c.77838C>G (TTN) ENSP00000340554.6:p.Tyr25946Ter
ENST00000342992.10:c.96753C>G (TTN) ENSP00000343764.6:p.Tyr32251Ter
ENST00000359218.9:c.77637C>G (TTN) ENSP00000352154.5:p.Tyr25879Ter
ENST00000460472.6:c.77262C>G (TTN) ENSP00000434586.1:p.Tyr25754Ter
ENST00000589042.5:c.104457C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34819Ter
ENST00000591111.5:c.99534C>G (TTN) ENSP00000465570.1:p.Tyr33178Ter
ENST00000615779.4:c.99534C>G (TTN) ENSP00000483597.1:p.Tyr33178Ter
NM_001256850.1:c.99534C>G (TTN) NP_001243779.1:p.Tyr33178Ter
NM_001267550.2:c.104457C>G (TTN) MANE Select NP_001254479.2:p.Tyr34819Ter
NM_003319.4:c.77262C>G (TTN) NP_003310.4:p.Tyr25754Ter
NM_133378.4:c.96753C>G (TTN) NP_596869.4:p.Tyr32251Ter
NM_133432.3:c.77637C>G (TTN) NP_597676.3:p.Tyr25879Ter
NM_133437.4:c.77838C>G (TTN) NP_597681.4:p.Tyr25946Ter
NR_038271.1:n.446+8522G>C (TTN-AS1)
NR_038272.1:n.220-3574G>C (TTN-AS1)
XM_011511729.1:c.103554C>G (TTN) XP_011510031.1:p.Tyr34518Ter
XM_011511730.1:c.77448C>G (TTN) XP_011510032.1:p.Tyr25816Ter
XM_011511731.1:c.77307C>G (TTN) XP_011510033.1:p.Tyr25769Ter
XM_017004819.1:c.103350C>G (TTN) XP_016860308.1:p.Tyr34450Ter
XM_017004820.1:c.98748C>G (TTN) XP_016860309.1:p.Tyr32916Ter
XM_017004821.1:c.98745C>G (TTN) XP_016860310.1:p.Tyr32915Ter
XM_017004822.1:c.95787C>G (TTN) XP_016860311.1:p.Tyr31929Ter
XM_017004823.1:c.77403C>G (TTN) XP_016860312.1:p.Tyr25801Ter
XM_024453094.1:c.98898C>G (TTN) XP_024308862.1:p.Tyr32966Ter
XM_024453095.1:c.98895C>G (TTN) XP_024308863.1:p.Tyr32965Ter
XM_024453096.1:c.98328C>G (TTN) XP_024308864.1:p.Tyr32776Ter
XM_024453097.1:c.95670C>G (TTN) XP_024308865.1:p.Tyr31890Ter
XM_024453098.1:c.95589C>G (TTN) XP_024308866.1:p.Tyr31863Ter
XM_024453099.1:c.77352C>G (TTN) XP_024308867.1:p.Tyr25784Ter
XM_024453100.1:c.67206C>G (TTN) XP_024308868.1:p.Tyr22402Ter