Canonical Allele Identifier: CA349455961

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544300T>C , CM000664.2:g.178544300T>C GRCh38
NC_000002.11:g.179409027T>C , CM000664.1:g.179409027T>C GRCh37
NC_000002.10:g.179117273T>C NCBI36
NG_011618.3:g.291503A>G , LRG_391:g.291503A>G
NG_051363.1:g.26474T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88225A>G (TTN) ENSP00000343764.6:p.Met29409Val
ENST00000342175.11:c.69310A>G (TTN) ENSP00000340554.6:p.Met23104Val
ENST00000359218.10:c.69109A>G (TTN) ENSP00000352154.5:p.Met23037Val
ENST00000342175.10:c.69310A>G (TTN) ENSP00000340554.6:p.Met23104Val
ENST00000342992.10:c.88225A>G (TTN) ENSP00000343764.6:p.Met29409Val
ENST00000359218.9:c.69109A>G (TTN) ENSP00000352154.5:p.Met23037Val
ENST00000460472.6:c.68734A>G (TTN) ENSP00000434586.1:p.Met22912Val
ENST00000589042.5:c.95929A>G (TTN) MANE Select ENSP00000467141.1:p.Met31977Val
ENST00000591111.5:c.91006A>G (TTN) ENSP00000465570.1:p.Met30336Val
ENST00000615779.4:c.91006A>G (TTN) ENSP00000483597.1:p.Met30336Val
NM_001256850.1:c.91006A>G (TTN) NP_001243779.1:p.Met30336Val
NM_001267550.2:c.95929A>G (TTN) MANE Select NP_001254479.2:p.Met31977Val
NM_003319.4:c.68734A>G (TTN) NP_003310.4:p.Met22912Val
NM_133378.4:c.88225A>G (TTN) NP_596869.4:p.Met29409Val
NM_133432.3:c.69109A>G (TTN) NP_597676.3:p.Met23037Val
NM_133437.4:c.69310A>G (TTN) NP_597681.4:p.Met23104Val
NR_038271.1:n.446+20664T>C (TTN-AS1)
NR_038272.1:n.2043+1939T>C (TTN-AS1)
XM_011511729.1:c.95026A>G (TTN) XP_011510031.1:p.Met31676Val
XM_011511730.1:c.68920A>G (TTN) XP_011510032.1:p.Met22974Val
XM_011511731.1:c.68779A>G (TTN) XP_011510033.1:p.Met22927Val
XM_017004819.1:c.94822A>G (TTN) XP_016860308.1:p.Met31608Val
XM_017004820.1:c.90220A>G (TTN) XP_016860309.1:p.Met30074Val
XM_017004821.1:c.90217A>G (TTN) XP_016860310.1:p.Met30073Val
XM_017004822.1:c.87259A>G (TTN) XP_016860311.1:p.Met29087Val
XM_017004823.1:c.68875A>G (TTN) XP_016860312.1:p.Met22959Val
XM_024453094.1:c.90370A>G (TTN) XP_024308862.1:p.Met30124Val
XM_024453095.1:c.90367A>G (TTN) XP_024308863.1:p.Met30123Val
XM_024453096.1:c.89800A>G (TTN) XP_024308864.1:p.Met29934Val
XM_024453097.1:c.87142A>G (TTN) XP_024308865.1:p.Met29048Val
XM_024453098.1:c.87061A>G (TTN) XP_024308866.1:p.Met29021Val
XM_024453099.1:c.68824A>G (TTN) XP_024308867.1:p.Met22942Val
XM_024453100.1:c.58678A>G (TTN) XP_024308868.1:p.Met19560Val