Canonical Allele Identifier: CA349457055

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544397A>C , CM000664.2:g.178544397A>C GRCh38
NC_000002.11:g.179409124A>C , CM000664.1:g.179409124A>C GRCh37
NC_000002.10:g.179117370A>C NCBI36
NG_011618.3:g.291406T>G , LRG_391:g.291406T>G
NG_051363.1:g.26571A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88128T>G (TTN) ENSP00000343764.6:p.Tyr29376Ter
ENST00000342175.11:c.69213T>G (TTN) ENSP00000340554.6:p.Tyr23071Ter
ENST00000359218.10:c.69012T>G (TTN) ENSP00000352154.5:p.Tyr23004Ter
ENST00000342175.10:c.69213T>G (TTN) ENSP00000340554.6:p.Tyr23071Ter
ENST00000342992.10:c.88128T>G (TTN) ENSP00000343764.6:p.Tyr29376Ter
ENST00000359218.9:c.69012T>G (TTN) ENSP00000352154.5:p.Tyr23004Ter
ENST00000460472.6:c.68637T>G (TTN) ENSP00000434586.1:p.Tyr22879Ter
ENST00000589042.5:c.95832T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31944Ter
ENST00000591111.5:c.90909T>G (TTN) ENSP00000465570.1:p.Tyr30303Ter
ENST00000615779.4:c.90909T>G (TTN) ENSP00000483597.1:p.Tyr30303Ter
NM_001256850.1:c.90909T>G (TTN) NP_001243779.1:p.Tyr30303Ter
NM_001267550.2:c.95832T>G (TTN) MANE Select NP_001254479.2:p.Tyr31944Ter
NM_003319.4:c.68637T>G (TTN) NP_003310.4:p.Tyr22879Ter
NM_133378.4:c.88128T>G (TTN) NP_596869.4:p.Tyr29376Ter
NM_133432.3:c.69012T>G (TTN) NP_597676.3:p.Tyr23004Ter
NM_133437.4:c.69213T>G (TTN) NP_597681.4:p.Tyr23071Ter
NR_038271.1:n.446+20761A>C (TTN-AS1)
NR_038272.1:n.2043+2036A>C (TTN-AS1)
XM_011511729.1:c.94929T>G (TTN) XP_011510031.1:p.Tyr31643Ter
XM_011511730.1:c.68823T>G (TTN) XP_011510032.1:p.Tyr22941Ter
XM_011511731.1:c.68682T>G (TTN) XP_011510033.1:p.Tyr22894Ter
XM_017004819.1:c.94725T>G (TTN) XP_016860308.1:p.Tyr31575Ter
XM_017004820.1:c.90123T>G (TTN) XP_016860309.1:p.Tyr30041Ter
XM_017004821.1:c.90120T>G (TTN) XP_016860310.1:p.Tyr30040Ter
XM_017004822.1:c.87162T>G (TTN) XP_016860311.1:p.Tyr29054Ter
XM_017004823.1:c.68778T>G (TTN) XP_016860312.1:p.Tyr22926Ter
XM_024453094.1:c.90273T>G (TTN) XP_024308862.1:p.Tyr30091Ter
XM_024453095.1:c.90270T>G (TTN) XP_024308863.1:p.Tyr30090Ter
XM_024453096.1:c.89703T>G (TTN) XP_024308864.1:p.Tyr29901Ter
XM_024453097.1:c.87045T>G (TTN) XP_024308865.1:p.Tyr29015Ter
XM_024453098.1:c.86964T>G (TTN) XP_024308866.1:p.Tyr28988Ter
XM_024453099.1:c.68727T>G (TTN) XP_024308867.1:p.Tyr22909Ter
XM_024453100.1:c.58581T>G (TTN) XP_024308868.1:p.Tyr19527Ter