Canonical Allele Identifier: CA349544057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559734A>G , CM000664.2:g.178559734A>G GRCh38
NC_000002.11:g.179424461A>G , CM000664.1:g.179424461A>G GRCh37
NC_000002.10:g.179132707A>G NCBI36
NG_011618.3:g.276069T>C , LRG_391:g.276069T>C
NG_051363.1:g.41908A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78694T>C (TTN) ENSP00000343764.6:p.Tyr26232His
ENST00000342175.11:c.59779T>C (TTN) ENSP00000340554.6:p.Tyr19927His
ENST00000359218.10:c.59578T>C (TTN) ENSP00000352154.5:p.Tyr19860His
ENST00000342175.10:c.59779T>C (TTN) ENSP00000340554.6:p.Tyr19927His
ENST00000342992.10:c.78694T>C (TTN) ENSP00000343764.6:p.Tyr26232His
ENST00000359218.9:c.59578T>C (TTN) ENSP00000352154.5:p.Tyr19860His
ENST00000460472.6:c.59203T>C (TTN) ENSP00000434586.1:p.Tyr19735His
ENST00000589042.5:c.86398T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr28800His
ENST00000591111.5:c.81475T>C (TTN) ENSP00000465570.1:p.Tyr27159His
ENST00000615779.4:c.81475T>C (TTN) ENSP00000483597.1:p.Tyr27159His
NM_001256850.1:c.81475T>C (TTN) NP_001243779.1:p.Tyr27159His
NM_001267550.2:c.86398T>C (TTN) MANE Select NP_001254479.2:p.Tyr28800His
NM_003319.4:c.59203T>C (TTN) NP_003310.4:p.Tyr19735His
NM_133378.4:c.78694T>C (TTN) NP_596869.4:p.Tyr26232His
NM_133432.3:c.59578T>C (TTN) NP_597676.3:p.Tyr19860His
NM_133437.4:c.59779T>C (TTN) NP_597681.4:p.Tyr19927His
NR_038271.1:n.447-11566A>G (TTN-AS1)
NR_038272.1:n.2043+17373A>G (TTN-AS1)
XM_011511729.1:c.85495T>C (TTN) XP_011510031.1:p.Tyr28499His
XM_011511730.1:c.59389T>C (TTN) XP_011510032.1:p.Tyr19797His
XM_011511731.1:c.59248T>C (TTN) XP_011510033.1:p.Tyr19750His
XM_017004819.1:c.85291T>C (TTN) XP_016860308.1:p.Tyr28431His
XM_017004820.1:c.80689T>C (TTN) XP_016860309.1:p.Tyr26897His
XM_017004821.1:c.80686T>C (TTN) XP_016860310.1:p.Tyr26896His
XM_017004822.1:c.77728T>C (TTN) XP_016860311.1:p.Tyr25910His
XM_017004823.1:c.59344T>C (TTN) XP_016860312.1:p.Tyr19782His
XM_024453094.1:c.80839T>C (TTN) XP_024308862.1:p.Tyr26947His
XM_024453095.1:c.80836T>C (TTN) XP_024308863.1:p.Tyr26946His
XM_024453096.1:c.80269T>C (TTN) XP_024308864.1:p.Tyr26757His
XM_024453097.1:c.77611T>C (TTN) XP_024308865.1:p.Tyr25871His
XM_024453098.1:c.77530T>C (TTN) XP_024308866.1:p.Tyr25844His
XM_024453099.1:c.59293T>C (TTN) XP_024308867.1:p.Tyr19765His
XM_024453100.1:c.49147T>C (TTN) XP_024308868.1:p.Tyr16383His