Canonical Allele Identifier: CA349417944
Community Standard Title: NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534322A>T , CM000664.2:g.178534322A>T GRCh38
NC_000002.11:g.179399049A>T , CM000664.1:g.179399049A>T GRCh37
NC_000002.10:g.179107295A>T NCBI36
NG_011618.3:g.301481T>A , LRG_391:g.301481T>A
NG_051363.1:g.16496A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102293T>A (TTN) MANE Select NP_001254479.2:p.Ile34098Asn
ENST00000589042.5:c.102293T>A (TTN) MANE Select ENSP00000467141.1:p.Ile34098Asn
NM_001256850.1:c.97370T>A (TTN) NP_001243779.1:p.Ile32457Asn
NM_003319.4:c.75098T>A (TTN) NP_003310.4:p.Ile25033Asn
NM_133378.4:c.94589T>A (TTN) NP_596869.4:p.Ile31530Asn
NM_133432.3:c.75473T>A (TTN) NP_597676.3:p.Ile25158Asn
NM_133437.4:c.75674T>A (TTN) NP_597681.4:p.Ile25225Asn
NR_038271.1:n.446+10686A>T (TTN-AS1)
NR_038272.1:n.220-1410A>T (TTN-AS1)
ENST00000342175.10:c.75674T>A (TTN) ENSP00000340554.6:p.Ile25225Asn
ENST00000342175.11:c.75674T>A (TTN) ENSP00000340554.6:p.Ile25225Asn
ENST00000342992.10:c.94589T>A (TTN) ENSP00000343764.6:p.Ile31530Asn
ENST00000342992.11:c.94589T>A (TTN) ENSP00000343764.6:p.Ile31530Asn
ENST00000359218.10:c.75473T>A (TTN) ENSP00000352154.5:p.Ile25158Asn
ENST00000359218.9:c.75473T>A (TTN) ENSP00000352154.5:p.Ile25158Asn
ENST00000460472.6:c.75098T>A (TTN) ENSP00000434586.1:p.Ile25033Asn
ENST00000591111.5:c.97370T>A (TTN) ENSP00000465570.1:p.Ile32457Asn
ENST00000615779.4:c.97370T>A (TTN) ENSP00000483597.1:p.Ile32457Asn
XM_011511729.1:c.101390T>A (TTN) XP_011510031.1:p.Ile33797Asn
XM_011511730.1:c.75284T>A (TTN) XP_011510032.1:p.Ile25095Asn
XM_011511731.1:c.75143T>A (TTN) XP_011510033.1:p.Ile25048Asn
XM_017004819.1:c.101186T>A (TTN) XP_016860308.1:p.Ile33729Asn
XM_017004820.1:c.96584T>A (TTN) XP_016860309.1:p.Ile32195Asn
XM_017004821.1:c.96581T>A (TTN) XP_016860310.1:p.Ile32194Asn
XM_017004822.1:c.93623T>A (TTN) XP_016860311.1:p.Ile31208Asn
XM_017004823.1:c.75239T>A (TTN) XP_016860312.1:p.Ile25080Asn
XM_024453094.1:c.96734T>A (TTN) XP_024308862.1:p.Ile32245Asn
XM_024453095.1:c.96731T>A (TTN) XP_024308863.1:p.Ile32244Asn
XM_024453096.1:c.96164T>A (TTN) XP_024308864.1:p.Ile32055Asn
XM_024453097.1:c.93506T>A (TTN) XP_024308865.1:p.Ile31169Asn
XM_024453098.1:c.93425T>A (TTN) XP_024308866.1:p.Ile31142Asn
XM_024453099.1:c.75188T>A (TTN) XP_024308867.1:p.Ile25063Asn
XM_024453100.1:c.65042T>A (TTN) XP_024308868.1:p.Ile21681Asn