Canonical Allele Identifier: CA349618841

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618224T>C , CM000664.2:g.178618224T>C GRCh38
NC_000002.11:g.179482951T>C , CM000664.1:g.179482951T>C GRCh37
NC_000002.10:g.179191196T>C NCBI36
NG_011618.3:g.217579A>G , LRG_391:g.217579A>G
NG_051363.1:g.100398T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39530A>G (TTN) ENSP00000343764.6:p.Glu13177Gly
ENST00000342175.11:c.20615A>G (TTN) ENSP00000340554.6:p.Glu6872Gly
ENST00000359218.10:c.20414A>G (TTN) ENSP00000352154.5:p.Glu6805Gly
ENST00000342175.10:c.20615A>G (TTN) ENSP00000340554.6:p.Glu6872Gly
ENST00000342992.10:c.39530A>G (TTN) ENSP00000343764.6:p.Glu13177Gly
ENST00000359218.9:c.20414A>G (TTN) ENSP00000352154.5:p.Glu6805Gly
ENST00000460472.6:c.20039A>G (TTN) ENSP00000434586.1:p.Glu6680Gly
ENST00000589042.5:c.47234A>G (TTN) MANE Select ENSP00000467141.1:p.Glu15745Gly
ENST00000591111.5:c.42311A>G (TTN) ENSP00000465570.1:p.Glu14104Gly
ENST00000615779.4:c.42311A>G (TTN) ENSP00000483597.1:p.Glu14104Gly
NM_001256850.1:c.42311A>G (TTN) NP_001243779.1:p.Glu14104Gly
NM_001267550.2:c.47234A>G (TTN) MANE Select NP_001254479.2:p.Glu15745Gly
NM_003319.4:c.20039A>G (TTN) NP_003310.4:p.Glu6680Gly
NM_133378.4:c.39530A>G (TTN) NP_596869.4:p.Glu13177Gly
NM_133432.3:c.20414A>G (TTN) NP_597676.3:p.Glu6805Gly
NM_133437.4:c.20615A>G (TTN) NP_597681.4:p.Glu6872Gly
NR_038271.1:n.1605-1529T>C (TTN-AS1)
XM_011511729.1:c.46331A>G (TTN) XP_011510031.1:p.Glu15444Gly
XM_011511730.1:c.20225A>G (TTN) XP_011510032.1:p.Glu6742Gly
XM_011511731.1:c.20084A>G (TTN) XP_011510033.1:p.Glu6695Gly
XM_017004819.1:c.46127A>G (TTN) XP_016860308.1:p.Glu15376Gly
XM_017004820.1:c.41525A>G (TTN) XP_016860309.1:p.Glu13842Gly
XM_017004821.1:c.41522A>G (TTN) XP_016860310.1:p.Glu13841Gly
XM_017004822.1:c.38564A>G (TTN) XP_016860311.1:p.Glu12855Gly
XM_017004823.1:c.20180A>G (TTN) XP_016860312.1:p.Glu6727Gly
XM_024453094.1:c.41675A>G (TTN) XP_024308862.1:p.Glu13892Gly
XM_024453095.1:c.41672A>G (TTN) XP_024308863.1:p.Glu13891Gly
XM_024453096.1:c.41105A>G (TTN) XP_024308864.1:p.Glu13702Gly
XM_024453097.1:c.38447A>G (TTN) XP_024308865.1:p.Glu12816Gly
XM_024453098.1:c.38366A>G (TTN) XP_024308866.1:p.Glu12789Gly
XM_024453099.1:c.20129A>G (TTN) XP_024308867.1:p.Glu6710Gly
XM_024453100.1:c.9983A>G (TTN) XP_024308868.1:p.Glu3328Gly