Canonical Allele Identifier: CA349407212

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530598A>C , CM000664.2:g.178530598A>C GRCh38
NC_000002.11:g.179395325A>C , CM000664.1:g.179395325A>C GRCh37
NC_000002.10:g.179103571A>C NCBI36
NG_011618.3:g.305205T>G , LRG_391:g.305205T>G
NG_051363.1:g.12772A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98313T>G (TTN) ENSP00000343764.6:p.Asp32771Glu
ENST00000342175.11:c.79398T>G (TTN) ENSP00000340554.6:p.Asp26466Glu
ENST00000359218.10:c.79197T>G (TTN) ENSP00000352154.5:p.Asp26399Glu
ENST00000342175.10:c.79398T>G (TTN) ENSP00000340554.6:p.Asp26466Glu
ENST00000342992.10:c.98313T>G (TTN) ENSP00000343764.6:p.Asp32771Glu
ENST00000359218.9:c.79197T>G (TTN) ENSP00000352154.5:p.Asp26399Glu
ENST00000460472.6:c.78822T>G (TTN) ENSP00000434586.1:p.Asp26274Glu
ENST00000589042.5:c.106017T>G (TTN) MANE Select ENSP00000467141.1:p.Asp35339Glu
ENST00000591111.5:c.101094T>G (TTN) ENSP00000465570.1:p.Asp33698Glu
ENST00000615779.4:c.101094T>G (TTN) ENSP00000483597.1:p.Asp33698Glu
NM_001256850.1:c.101094T>G (TTN) NP_001243779.1:p.Asp33698Glu
NM_001267550.2:c.106017T>G (TTN) MANE Select NP_001254479.2:p.Asp35339Glu
NM_003319.4:c.78822T>G (TTN) NP_003310.4:p.Asp26274Glu
NM_133378.4:c.98313T>G (TTN) NP_596869.4:p.Asp32771Glu
NM_133432.3:c.79197T>G (TTN) NP_597676.3:p.Asp26399Glu
NM_133437.4:c.79398T>G (TTN) NP_597681.4:p.Asp26466Glu
NR_038271.1:n.446+6962A>C (TTN-AS1)
NR_038272.1:n.220-5134A>C (TTN-AS1)
XM_011511729.1:c.105114T>G (TTN) XP_011510031.1:p.Asp35038Glu
XM_011511730.1:c.79008T>G (TTN) XP_011510032.1:p.Asp26336Glu
XM_011511731.1:c.78867T>G (TTN) XP_011510033.1:p.Asp26289Glu
XM_017004819.1:c.104910T>G (TTN) XP_016860308.1:p.Asp34970Glu
XM_017004820.1:c.100308T>G (TTN) XP_016860309.1:p.Asp33436Glu
XM_017004821.1:c.100305T>G (TTN) XP_016860310.1:p.Asp33435Glu
XM_017004822.1:c.97347T>G (TTN) XP_016860311.1:p.Asp32449Glu
XM_017004823.1:c.78963T>G (TTN) XP_016860312.1:p.Asp26321Glu
XM_024453094.1:c.100458T>G (TTN) XP_024308862.1:p.Asp33486Glu
XM_024453095.1:c.100455T>G (TTN) XP_024308863.1:p.Asp33485Glu
XM_024453096.1:c.99888T>G (TTN) XP_024308864.1:p.Asp33296Glu
XM_024453097.1:c.97230T>G (TTN) XP_024308865.1:p.Asp32410Glu
XM_024453098.1:c.97149T>G (TTN) XP_024308866.1:p.Asp32383Glu
XM_024453099.1:c.78912T>G (TTN) XP_024308867.1:p.Asp26304Glu
XM_024453100.1:c.68766T>G (TTN) XP_024308868.1:p.Asp22922Glu