Canonical Allele Identifier: CA349604990

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613928C>G , CM000664.2:g.178613928C>G GRCh38
NC_000002.11:g.179478655C>G , CM000664.1:g.179478655C>G GRCh37
NC_000002.10:g.179186900C>G NCBI36
NG_011618.3:g.221875G>C , LRG_391:g.221875G>C
NG_051363.1:g.96102C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41651G>C (TTN) ENSP00000343764.6:p.Gly13884Ala
ENST00000342175.11:c.22736G>C (TTN) ENSP00000340554.6:p.Gly7579Ala
ENST00000359218.10:c.22535G>C (TTN) ENSP00000352154.5:p.Gly7512Ala
ENST00000342175.10:c.22736G>C (TTN) ENSP00000340554.6:p.Gly7579Ala
ENST00000342992.10:c.41651G>C (TTN) ENSP00000343764.6:p.Gly13884Ala
ENST00000359218.9:c.22535G>C (TTN) ENSP00000352154.5:p.Gly7512Ala
ENST00000460472.6:c.22160G>C (TTN) ENSP00000434586.1:p.Gly7387Ala
ENST00000589042.5:c.49355G>C (TTN) MANE Select ENSP00000467141.1:p.Gly16452Ala
ENST00000591111.5:c.44432G>C (TTN) ENSP00000465570.1:p.Gly14811Ala
ENST00000615779.4:c.44432G>C (TTN) ENSP00000483597.1:p.Gly14811Ala
NM_001256850.1:c.44432G>C (TTN) NP_001243779.1:p.Gly14811Ala
NM_001267550.2:c.49355G>C (TTN) MANE Select NP_001254479.2:p.Gly16452Ala
NM_003319.4:c.22160G>C (TTN) NP_003310.4:p.Gly7387Ala
NM_133378.4:c.41651G>C (TTN) NP_596869.4:p.Gly13884Ala
NM_133432.3:c.22535G>C (TTN) NP_597676.3:p.Gly7512Ala
NM_133437.4:c.22736G>C (TTN) NP_597681.4:p.Gly7579Ala
NR_038271.1:n.783-107C>G (TTN-AS1)
XM_011511729.1:c.48452G>C (TTN) XP_011510031.1:p.Gly16151Ala
XM_011511730.1:c.22346G>C (TTN) XP_011510032.1:p.Gly7449Ala
XM_011511731.1:c.22205G>C (TTN) XP_011510033.1:p.Gly7402Ala
XM_017004819.1:c.48248G>C (TTN) XP_016860308.1:p.Gly16083Ala
XM_017004820.1:c.43646G>C (TTN) XP_016860309.1:p.Gly14549Ala
XM_017004821.1:c.43643G>C (TTN) XP_016860310.1:p.Gly14548Ala
XM_017004822.1:c.40685G>C (TTN) XP_016860311.1:p.Gly13562Ala
XM_017004823.1:c.22301G>C (TTN) XP_016860312.1:p.Gly7434Ala
XM_024453094.1:c.43796G>C (TTN) XP_024308862.1:p.Gly14599Ala
XM_024453095.1:c.43793G>C (TTN) XP_024308863.1:p.Gly14598Ala
XM_024453096.1:c.43226G>C (TTN) XP_024308864.1:p.Gly14409Ala
XM_024453097.1:c.40568G>C (TTN) XP_024308865.1:p.Gly13523Ala
XM_024453098.1:c.40487G>C (TTN) XP_024308866.1:p.Gly13496Ala
XM_024453099.1:c.22250G>C (TTN) XP_024308867.1:p.Gly7417Ala
XM_024453100.1:c.12104G>C (TTN) XP_024308868.1:p.Gly4035Ala