Canonical Allele Identifier: CA349456182

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544329T>C , CM000664.2:g.178544329T>C GRCh38
NC_000002.11:g.179409056T>C , CM000664.1:g.179409056T>C GRCh37
NC_000002.10:g.179117302T>C NCBI36
NG_011618.3:g.291474A>G , LRG_391:g.291474A>G
NG_051363.1:g.26503T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88196A>G (TTN) ENSP00000343764.6:p.Asn29399Ser
ENST00000342175.11:c.69281A>G (TTN) ENSP00000340554.6:p.Asn23094Ser
ENST00000359218.10:c.69080A>G (TTN) ENSP00000352154.5:p.Asn23027Ser
ENST00000342175.10:c.69281A>G (TTN) ENSP00000340554.6:p.Asn23094Ser
ENST00000342992.10:c.88196A>G (TTN) ENSP00000343764.6:p.Asn29399Ser
ENST00000359218.9:c.69080A>G (TTN) ENSP00000352154.5:p.Asn23027Ser
ENST00000460472.6:c.68705A>G (TTN) ENSP00000434586.1:p.Asn22902Ser
ENST00000589042.5:c.95900A>G (TTN) MANE Select ENSP00000467141.1:p.Asn31967Ser
ENST00000591111.5:c.90977A>G (TTN) ENSP00000465570.1:p.Asn30326Ser
ENST00000615779.4:c.90977A>G (TTN) ENSP00000483597.1:p.Asn30326Ser
NM_001256850.1:c.90977A>G (TTN) NP_001243779.1:p.Asn30326Ser
NM_001267550.2:c.95900A>G (TTN) MANE Select NP_001254479.2:p.Asn31967Ser
NM_003319.4:c.68705A>G (TTN) NP_003310.4:p.Asn22902Ser
NM_133378.4:c.88196A>G (TTN) NP_596869.4:p.Asn29399Ser
NM_133432.3:c.69080A>G (TTN) NP_597676.3:p.Asn23027Ser
NM_133437.4:c.69281A>G (TTN) NP_597681.4:p.Asn23094Ser
NR_038271.1:n.446+20693T>C (TTN-AS1)
NR_038272.1:n.2043+1968T>C (TTN-AS1)
XM_011511729.1:c.94997A>G (TTN) XP_011510031.1:p.Asn31666Ser
XM_011511730.1:c.68891A>G (TTN) XP_011510032.1:p.Asn22964Ser
XM_011511731.1:c.68750A>G (TTN) XP_011510033.1:p.Asn22917Ser
XM_017004819.1:c.94793A>G (TTN) XP_016860308.1:p.Asn31598Ser
XM_017004820.1:c.90191A>G (TTN) XP_016860309.1:p.Asn30064Ser
XM_017004821.1:c.90188A>G (TTN) XP_016860310.1:p.Asn30063Ser
XM_017004822.1:c.87230A>G (TTN) XP_016860311.1:p.Asn29077Ser
XM_017004823.1:c.68846A>G (TTN) XP_016860312.1:p.Asn22949Ser
XM_024453094.1:c.90341A>G (TTN) XP_024308862.1:p.Asn30114Ser
XM_024453095.1:c.90338A>G (TTN) XP_024308863.1:p.Asn30113Ser
XM_024453096.1:c.89771A>G (TTN) XP_024308864.1:p.Asn29924Ser
XM_024453097.1:c.87113A>G (TTN) XP_024308865.1:p.Asn29038Ser
XM_024453098.1:c.87032A>G (TTN) XP_024308866.1:p.Asn29011Ser
XM_024453099.1:c.68795A>G (TTN) XP_024308867.1:p.Asn22932Ser
XM_024453100.1:c.58649A>G (TTN) XP_024308868.1:p.Asn19550Ser