Canonical Allele Identifier: CA349613423

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617228C>G , CM000664.2:g.178617228C>G GRCh38
NC_000002.11:g.179481955C>G , CM000664.1:g.179481955C>G GRCh37
NC_000002.10:g.179190200C>G NCBI36
NG_011618.3:g.218575G>C , LRG_391:g.218575G>C
NG_051363.1:g.99402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.40063G>C (TTN) ENSP00000343764.6:p.Gly13355Arg
ENST00000342175.11:c.21148G>C (TTN) ENSP00000340554.6:p.Gly7050Arg
ENST00000359218.10:c.20947G>C (TTN) ENSP00000352154.5:p.Gly6983Arg
ENST00000342175.10:c.21148G>C (TTN) ENSP00000340554.6:p.Gly7050Arg
ENST00000342992.10:c.40063G>C (TTN) ENSP00000343764.6:p.Gly13355Arg
ENST00000359218.9:c.20947G>C (TTN) ENSP00000352154.5:p.Gly6983Arg
ENST00000460472.6:c.20572G>C (TTN) ENSP00000434586.1:p.Gly6858Arg
ENST00000589042.5:c.47767G>C (TTN) MANE Select ENSP00000467141.1:p.Gly15923Arg
ENST00000591111.5:c.42844G>C (TTN) ENSP00000465570.1:p.Gly14282Arg
ENST00000615779.4:c.42844G>C (TTN) ENSP00000483597.1:p.Gly14282Arg
NM_001256850.1:c.42844G>C (TTN) NP_001243779.1:p.Gly14282Arg
NM_001267550.2:c.47767G>C (TTN) MANE Select NP_001254479.2:p.Gly15923Arg
NM_003319.4:c.20572G>C (TTN) NP_003310.4:p.Gly6858Arg
NM_133378.4:c.40063G>C (TTN) NP_596869.4:p.Gly13355Arg
NM_133432.3:c.20947G>C (TTN) NP_597676.3:p.Gly6983Arg
NM_133437.4:c.21148G>C (TTN) NP_597681.4:p.Gly7050Arg
NR_038271.1:n.1604+1854C>G (TTN-AS1)
XM_011511729.1:c.46864G>C (TTN) XP_011510031.1:p.Gly15622Arg
XM_011511730.1:c.20758G>C (TTN) XP_011510032.1:p.Gly6920Arg
XM_011511731.1:c.20617G>C (TTN) XP_011510033.1:p.Gly6873Arg
XM_017004819.1:c.46660G>C (TTN) XP_016860308.1:p.Gly15554Arg
XM_017004820.1:c.42058G>C (TTN) XP_016860309.1:p.Gly14020Arg
XM_017004821.1:c.42055G>C (TTN) XP_016860310.1:p.Gly14019Arg
XM_017004822.1:c.39097G>C (TTN) XP_016860311.1:p.Gly13033Arg
XM_017004823.1:c.20713G>C (TTN) XP_016860312.1:p.Gly6905Arg
XM_024453094.1:c.42208G>C (TTN) XP_024308862.1:p.Gly14070Arg
XM_024453095.1:c.42205G>C (TTN) XP_024308863.1:p.Gly14069Arg
XM_024453096.1:c.41638G>C (TTN) XP_024308864.1:p.Gly13880Arg
XM_024453097.1:c.38980G>C (TTN) XP_024308865.1:p.Gly12994Arg
XM_024453098.1:c.38899G>C (TTN) XP_024308866.1:p.Gly12967Arg
XM_024453099.1:c.20662G>C (TTN) XP_024308867.1:p.Gly6888Arg
XM_024453100.1:c.10516G>C (TTN) XP_024308868.1:p.Gly3506Arg