Canonical Allele Identifier: CA349417052

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533961G>C , CM000664.2:g.178533961G>C GRCh38
NC_000002.11:g.179398688G>C , CM000664.1:g.179398688G>C GRCh37
NC_000002.10:g.179106934G>C NCBI36
NG_011618.3:g.301842C>G , LRG_391:g.301842C>G
NG_051363.1:g.16135G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94950C>G (TTN) ENSP00000343764.6:p.Asp31650Glu
ENST00000342175.11:c.76035C>G (TTN) ENSP00000340554.6:p.Asp25345Glu
ENST00000359218.10:c.75834C>G (TTN) ENSP00000352154.5:p.Asp25278Glu
ENST00000342175.10:c.76035C>G (TTN) ENSP00000340554.6:p.Asp25345Glu
ENST00000342992.10:c.94950C>G (TTN) ENSP00000343764.6:p.Asp31650Glu
ENST00000359218.9:c.75834C>G (TTN) ENSP00000352154.5:p.Asp25278Glu
ENST00000460472.6:c.75459C>G (TTN) ENSP00000434586.1:p.Asp25153Glu
ENST00000589042.5:c.102654C>G (TTN) MANE Select ENSP00000467141.1:p.Asp34218Glu
ENST00000591111.5:c.97731C>G (TTN) ENSP00000465570.1:p.Asp32577Glu
ENST00000615779.4:c.97731C>G (TTN) ENSP00000483597.1:p.Asp32577Glu
NM_001256850.1:c.97731C>G (TTN) NP_001243779.1:p.Asp32577Glu
NM_001267550.2:c.102654C>G (TTN) MANE Select NP_001254479.2:p.Asp34218Glu
NM_003319.4:c.75459C>G (TTN) NP_003310.4:p.Asp25153Glu
NM_133378.4:c.94950C>G (TTN) NP_596869.4:p.Asp31650Glu
NM_133432.3:c.75834C>G (TTN) NP_597676.3:p.Asp25278Glu
NM_133437.4:c.76035C>G (TTN) NP_597681.4:p.Asp25345Glu
NR_038271.1:n.446+10325G>C (TTN-AS1)
NR_038272.1:n.220-1771G>C (TTN-AS1)
XM_011511729.1:c.101751C>G (TTN) XP_011510031.1:p.Asp33917Glu
XM_011511730.1:c.75645C>G (TTN) XP_011510032.1:p.Asp25215Glu
XM_011511731.1:c.75504C>G (TTN) XP_011510033.1:p.Asp25168Glu
XM_017004819.1:c.101547C>G (TTN) XP_016860308.1:p.Asp33849Glu
XM_017004820.1:c.96945C>G (TTN) XP_016860309.1:p.Asp32315Glu
XM_017004821.1:c.96942C>G (TTN) XP_016860310.1:p.Asp32314Glu
XM_017004822.1:c.93984C>G (TTN) XP_016860311.1:p.Asp31328Glu
XM_017004823.1:c.75600C>G (TTN) XP_016860312.1:p.Asp25200Glu
XM_024453094.1:c.97095C>G (TTN) XP_024308862.1:p.Asp32365Glu
XM_024453095.1:c.97092C>G (TTN) XP_024308863.1:p.Asp32364Glu
XM_024453096.1:c.96525C>G (TTN) XP_024308864.1:p.Asp32175Glu
XM_024453097.1:c.93867C>G (TTN) XP_024308865.1:p.Asp31289Glu
XM_024453098.1:c.93786C>G (TTN) XP_024308866.1:p.Asp31262Glu
XM_024453099.1:c.75549C>G (TTN) XP_024308867.1:p.Asp25183Glu
XM_024453100.1:c.65403C>G (TTN) XP_024308868.1:p.Asp21801Glu