Canonical Allele Identifier: CA349406627

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530412C>G , CM000664.2:g.178530412C>G GRCh38
NC_000002.11:g.179395139C>G , CM000664.1:g.179395139C>G GRCh37
NC_000002.10:g.179103385C>G NCBI36
NG_011618.3:g.305391G>C , LRG_391:g.305391G>C
NG_051363.1:g.12586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98499G>C (TTN) ENSP00000343764.6:p.Glu32833Asp
ENST00000342175.11:c.79584G>C (TTN) ENSP00000340554.6:p.Glu26528Asp
ENST00000359218.10:c.79383G>C (TTN) ENSP00000352154.5:p.Glu26461Asp
ENST00000342175.10:c.79584G>C (TTN) ENSP00000340554.6:p.Glu26528Asp
ENST00000342992.10:c.98499G>C (TTN) ENSP00000343764.6:p.Glu32833Asp
ENST00000359218.9:c.79383G>C (TTN) ENSP00000352154.5:p.Glu26461Asp
ENST00000460472.6:c.79008G>C (TTN) ENSP00000434586.1:p.Glu26336Asp
ENST00000589042.5:c.106203G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35401Asp
ENST00000591111.5:c.101280G>C (TTN) ENSP00000465570.1:p.Glu33760Asp
ENST00000615779.4:c.101280G>C (TTN) ENSP00000483597.1:p.Glu33760Asp
NM_001256850.1:c.101280G>C (TTN) NP_001243779.1:p.Glu33760Asp
NM_001267550.2:c.106203G>C (TTN) MANE Select NP_001254479.2:p.Glu35401Asp
NM_003319.4:c.79008G>C (TTN) NP_003310.4:p.Glu26336Asp
NM_133378.4:c.98499G>C (TTN) NP_596869.4:p.Glu32833Asp
NM_133432.3:c.79383G>C (TTN) NP_597676.3:p.Glu26461Asp
NM_133437.4:c.79584G>C (TTN) NP_597681.4:p.Glu26528Asp
NR_038271.1:n.446+6776C>G (TTN-AS1)
NR_038272.1:n.220-5320C>G (TTN-AS1)
XM_011511729.1:c.105300G>C (TTN) XP_011510031.1:p.Glu35100Asp
XM_011511730.1:c.79194G>C (TTN) XP_011510032.1:p.Glu26398Asp
XM_011511731.1:c.79053G>C (TTN) XP_011510033.1:p.Glu26351Asp
XM_017004819.1:c.105096G>C (TTN) XP_016860308.1:p.Glu35032Asp
XM_017004820.1:c.100494G>C (TTN) XP_016860309.1:p.Glu33498Asp
XM_017004821.1:c.100491G>C (TTN) XP_016860310.1:p.Glu33497Asp
XM_017004822.1:c.97533G>C (TTN) XP_016860311.1:p.Glu32511Asp
XM_017004823.1:c.79149G>C (TTN) XP_016860312.1:p.Glu26383Asp
XM_024453094.1:c.100644G>C (TTN) XP_024308862.1:p.Glu33548Asp
XM_024453095.1:c.100641G>C (TTN) XP_024308863.1:p.Glu33547Asp
XM_024453096.1:c.100074G>C (TTN) XP_024308864.1:p.Glu33358Asp
XM_024453097.1:c.97416G>C (TTN) XP_024308865.1:p.Glu32472Asp
XM_024453098.1:c.97335G>C (TTN) XP_024308866.1:p.Glu32445Asp
XM_024453099.1:c.79098G>C (TTN) XP_024308867.1:p.Glu26366Asp
XM_024453100.1:c.68952G>C (TTN) XP_024308868.1:p.Glu22984Asp