Canonical Allele Identifier: CA1994499

Linked Data

ClinVar Variation Id: 281972
dbSNP Id: rs367566671

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612850C>T , CM000664.2:g.178612850C>T GRCh38
NC_000002.11:g.179477577C>T , CM000664.1:g.179477577C>T GRCh37
NC_000002.10:g.179185822C>T NCBI36
NG_011618.3:g.222953G>A , LRG_391:g.222953G>A
NG_051363.1:g.95024C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.42167G>A (TTN) ENSP00000343764.6:p.Arg14056Gln
ENST00000342175.11:c.23252G>A (TTN) ENSP00000340554.6:p.Arg7751Gln
ENST00000359218.10:c.23051G>A (TTN) ENSP00000352154.5:p.Arg7684Gln
ENST00000342175.10:c.23252G>A (TTN) ENSP00000340554.6:p.Arg7751Gln
ENST00000342992.10:c.42167G>A (TTN) ENSP00000343764.6:p.Arg14056Gln
ENST00000359218.9:c.23051G>A (TTN) ENSP00000352154.5:p.Arg7684Gln
ENST00000460472.6:c.22676G>A (TTN) ENSP00000434586.1:p.Arg7559Gln
ENST00000589042.5:c.49871G>A (TTN) MANE Select ENSP00000467141.1:p.Arg16624Gln
ENST00000591111.5:c.44948G>A (TTN) ENSP00000465570.1:p.Arg14983Gln
ENST00000615779.4:c.44948G>A (TTN) ENSP00000483597.1:p.Arg14983Gln
NM_001256850.1:c.44948G>A (TTN) NP_001243779.1:p.Arg14983Gln
NM_001267550.2:c.49871G>A (TTN) MANE Select NP_001254479.2:p.Arg16624Gln
NM_003319.4:c.22676G>A (TTN) NP_003310.4:p.Arg7559Gln
NM_133378.4:c.42167G>A (TTN) NP_596869.4:p.Arg14056Gln
NM_133432.3:c.23051G>A (TTN) NP_597676.3:p.Arg7684Gln
NM_133437.4:c.23252G>A (TTN) NP_597681.4:p.Arg7751Gln
NR_038271.1:n.783-1185C>T (TTN-AS1)
XM_011511729.1:c.48968G>A (TTN) XP_011510031.1:p.Arg16323Gln
XM_011511730.1:c.22862G>A (TTN) XP_011510032.1:p.Arg7621Gln
XM_011511731.1:c.22721G>A (TTN) XP_011510033.1:p.Arg7574Gln
XM_017004819.1:c.48764G>A (TTN) XP_016860308.1:p.Arg16255Gln
XM_017004820.1:c.44162G>A (TTN) XP_016860309.1:p.Arg14721Gln
XM_017004821.1:c.44159G>A (TTN) XP_016860310.1:p.Arg14720Gln
XM_017004822.1:c.41201G>A (TTN) XP_016860311.1:p.Arg13734Gln
XM_017004823.1:c.22817G>A (TTN) XP_016860312.1:p.Arg7606Gln
XM_024453094.1:c.44312G>A (TTN) XP_024308862.1:p.Arg14771Gln
XM_024453095.1:c.44309G>A (TTN) XP_024308863.1:p.Arg14770Gln
XM_024453096.1:c.43742G>A (TTN) XP_024308864.1:p.Arg14581Gln
XM_024453097.1:c.41084G>A (TTN) XP_024308865.1:p.Arg13695Gln
XM_024453098.1:c.41003G>A (TTN) XP_024308866.1:p.Arg13668Gln
XM_024453099.1:c.22766G>A (TTN) XP_024308867.1:p.Arg7589Gln
XM_024453100.1:c.12620G>A (TTN) XP_024308868.1:p.Arg4207Gln