Canonical Allele Identifier: CA349406899

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530463C>G , CM000664.2:g.178530463C>G GRCh38
NC_000002.11:g.179395190C>G , CM000664.1:g.179395190C>G GRCh37
NC_000002.10:g.179103436C>G NCBI36
NG_011618.3:g.305340G>C , LRG_391:g.305340G>C
NG_051363.1:g.12637C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98448G>C (TTN) ENSP00000343764.6:p.Glu32816Asp
ENST00000342175.11:c.79533G>C (TTN) ENSP00000340554.6:p.Glu26511Asp
ENST00000359218.10:c.79332G>C (TTN) ENSP00000352154.5:p.Glu26444Asp
ENST00000342175.10:c.79533G>C (TTN) ENSP00000340554.6:p.Glu26511Asp
ENST00000342992.10:c.98448G>C (TTN) ENSP00000343764.6:p.Glu32816Asp
ENST00000359218.9:c.79332G>C (TTN) ENSP00000352154.5:p.Glu26444Asp
ENST00000460472.6:c.78957G>C (TTN) ENSP00000434586.1:p.Glu26319Asp
ENST00000589042.5:c.106152G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35384Asp
ENST00000591111.5:c.101229G>C (TTN) ENSP00000465570.1:p.Glu33743Asp
ENST00000615779.4:c.101229G>C (TTN) ENSP00000483597.1:p.Glu33743Asp
NM_001256850.1:c.101229G>C (TTN) NP_001243779.1:p.Glu33743Asp
NM_001267550.2:c.106152G>C (TTN) MANE Select NP_001254479.2:p.Glu35384Asp
NM_003319.4:c.78957G>C (TTN) NP_003310.4:p.Glu26319Asp
NM_133378.4:c.98448G>C (TTN) NP_596869.4:p.Glu32816Asp
NM_133432.3:c.79332G>C (TTN) NP_597676.3:p.Glu26444Asp
NM_133437.4:c.79533G>C (TTN) NP_597681.4:p.Glu26511Asp
NR_038271.1:n.446+6827C>G (TTN-AS1)
NR_038272.1:n.220-5269C>G (TTN-AS1)
XM_011511729.1:c.105249G>C (TTN) XP_011510031.1:p.Glu35083Asp
XM_011511730.1:c.79143G>C (TTN) XP_011510032.1:p.Glu26381Asp
XM_011511731.1:c.79002G>C (TTN) XP_011510033.1:p.Glu26334Asp
XM_017004819.1:c.105045G>C (TTN) XP_016860308.1:p.Glu35015Asp
XM_017004820.1:c.100443G>C (TTN) XP_016860309.1:p.Glu33481Asp
XM_017004821.1:c.100440G>C (TTN) XP_016860310.1:p.Glu33480Asp
XM_017004822.1:c.97482G>C (TTN) XP_016860311.1:p.Glu32494Asp
XM_017004823.1:c.79098G>C (TTN) XP_016860312.1:p.Glu26366Asp
XM_024453094.1:c.100593G>C (TTN) XP_024308862.1:p.Glu33531Asp
XM_024453095.1:c.100590G>C (TTN) XP_024308863.1:p.Glu33530Asp
XM_024453096.1:c.100023G>C (TTN) XP_024308864.1:p.Glu33341Asp
XM_024453097.1:c.97365G>C (TTN) XP_024308865.1:p.Glu32455Asp
XM_024453098.1:c.97284G>C (TTN) XP_024308866.1:p.Glu32428Asp
XM_024453099.1:c.79047G>C (TTN) XP_024308867.1:p.Glu26349Asp
XM_024453100.1:c.68901G>C (TTN) XP_024308868.1:p.Glu22967Asp