Canonical Allele Identifier: CA349457084

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544399A>C , CM000664.2:g.178544399A>C GRCh38
NC_000002.11:g.179409126A>C , CM000664.1:g.179409126A>C GRCh37
NC_000002.10:g.179117372A>C NCBI36
NG_011618.3:g.291404T>G , LRG_391:g.291404T>G
NG_051363.1:g.26573A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88126T>G (TTN) ENSP00000343764.6:p.Tyr29376Asp
ENST00000342175.11:c.69211T>G (TTN) ENSP00000340554.6:p.Tyr23071Asp
ENST00000359218.10:c.69010T>G (TTN) ENSP00000352154.5:p.Tyr23004Asp
ENST00000342175.10:c.69211T>G (TTN) ENSP00000340554.6:p.Tyr23071Asp
ENST00000342992.10:c.88126T>G (TTN) ENSP00000343764.6:p.Tyr29376Asp
ENST00000359218.9:c.69010T>G (TTN) ENSP00000352154.5:p.Tyr23004Asp
ENST00000460472.6:c.68635T>G (TTN) ENSP00000434586.1:p.Tyr22879Asp
ENST00000589042.5:c.95830T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31944Asp
ENST00000591111.5:c.90907T>G (TTN) ENSP00000465570.1:p.Tyr30303Asp
ENST00000615779.4:c.90907T>G (TTN) ENSP00000483597.1:p.Tyr30303Asp
NM_001256850.1:c.90907T>G (TTN) NP_001243779.1:p.Tyr30303Asp
NM_001267550.2:c.95830T>G (TTN) MANE Select NP_001254479.2:p.Tyr31944Asp
NM_003319.4:c.68635T>G (TTN) NP_003310.4:p.Tyr22879Asp
NM_133378.4:c.88126T>G (TTN) NP_596869.4:p.Tyr29376Asp
NM_133432.3:c.69010T>G (TTN) NP_597676.3:p.Tyr23004Asp
NM_133437.4:c.69211T>G (TTN) NP_597681.4:p.Tyr23071Asp
NR_038271.1:n.446+20763A>C (TTN-AS1)
NR_038272.1:n.2043+2038A>C (TTN-AS1)
XM_011511729.1:c.94927T>G (TTN) XP_011510031.1:p.Tyr31643Asp
XM_011511730.1:c.68821T>G (TTN) XP_011510032.1:p.Tyr22941Asp
XM_011511731.1:c.68680T>G (TTN) XP_011510033.1:p.Tyr22894Asp
XM_017004819.1:c.94723T>G (TTN) XP_016860308.1:p.Tyr31575Asp
XM_017004820.1:c.90121T>G (TTN) XP_016860309.1:p.Tyr30041Asp
XM_017004821.1:c.90118T>G (TTN) XP_016860310.1:p.Tyr30040Asp
XM_017004822.1:c.87160T>G (TTN) XP_016860311.1:p.Tyr29054Asp
XM_017004823.1:c.68776T>G (TTN) XP_016860312.1:p.Tyr22926Asp
XM_024453094.1:c.90271T>G (TTN) XP_024308862.1:p.Tyr30091Asp
XM_024453095.1:c.90268T>G (TTN) XP_024308863.1:p.Tyr30090Asp
XM_024453096.1:c.89701T>G (TTN) XP_024308864.1:p.Tyr29901Asp
XM_024453097.1:c.87043T>G (TTN) XP_024308865.1:p.Tyr29015Asp
XM_024453098.1:c.86962T>G (TTN) XP_024308866.1:p.Tyr28988Asp
XM_024453099.1:c.68725T>G (TTN) XP_024308867.1:p.Tyr22909Asp
XM_024453100.1:c.58579T>G (TTN) XP_024308868.1:p.Tyr19527Asp