Canonical Allele Identifier: CA349621882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618685A>G , CM000664.2:g.178618685A>G GRCh38
NC_000002.11:g.179483412A>G , CM000664.1:g.179483412A>G GRCh37
NC_000002.10:g.179191657A>G NCBI36
NG_011618.3:g.217118T>C , LRG_391:g.217118T>C
NG_051363.1:g.100859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39161T>C (TTN) ENSP00000343764.6:p.Phe13054Ser
ENST00000342175.11:c.20246T>C (TTN) ENSP00000340554.6:p.Phe6749Ser
ENST00000359218.10:c.20045T>C (TTN) ENSP00000352154.5:p.Phe6682Ser
ENST00000342175.10:c.20246T>C (TTN) ENSP00000340554.6:p.Phe6749Ser
ENST00000342992.10:c.39161T>C (TTN) ENSP00000343764.6:p.Phe13054Ser
ENST00000359218.9:c.20045T>C (TTN) ENSP00000352154.5:p.Phe6682Ser
ENST00000460472.6:c.19670T>C (TTN) ENSP00000434586.1:p.Phe6557Ser
ENST00000589042.5:c.46865T>C (TTN) MANE Select ENSP00000467141.1:p.Phe15622Ser
ENST00000591111.5:c.41942T>C (TTN) ENSP00000465570.1:p.Phe13981Ser
ENST00000615779.4:c.41942T>C (TTN) ENSP00000483597.1:p.Phe13981Ser
NM_001256850.1:c.41942T>C (TTN) NP_001243779.1:p.Phe13981Ser
NM_001267550.2:c.46865T>C (TTN) MANE Select NP_001254479.2:p.Phe15622Ser
NM_003319.4:c.19670T>C (TTN) NP_003310.4:p.Phe6557Ser
NM_133378.4:c.39161T>C (TTN) NP_596869.4:p.Phe13054Ser
NM_133432.3:c.20045T>C (TTN) NP_597676.3:p.Phe6682Ser
NM_133437.4:c.20246T>C (TTN) NP_597681.4:p.Phe6749Ser
NR_038271.1:n.1605-1068A>G (TTN-AS1)
XM_011511729.1:c.45962T>C (TTN) XP_011510031.1:p.Phe15321Ser
XM_011511730.1:c.19856T>C (TTN) XP_011510032.1:p.Phe6619Ser
XM_011511731.1:c.19715T>C (TTN) XP_011510033.1:p.Phe6572Ser
XM_017004819.1:c.45758T>C (TTN) XP_016860308.1:p.Phe15253Ser
XM_017004820.1:c.41156T>C (TTN) XP_016860309.1:p.Phe13719Ser
XM_017004821.1:c.41153T>C (TTN) XP_016860310.1:p.Phe13718Ser
XM_017004822.1:c.38195T>C (TTN) XP_016860311.1:p.Phe12732Ser
XM_017004823.1:c.19811T>C (TTN) XP_016860312.1:p.Phe6604Ser
XM_024453094.1:c.41306T>C (TTN) XP_024308862.1:p.Phe13769Ser
XM_024453095.1:c.41303T>C (TTN) XP_024308863.1:p.Phe13768Ser
XM_024453096.1:c.40736T>C (TTN) XP_024308864.1:p.Phe13579Ser
XM_024453097.1:c.38078T>C (TTN) XP_024308865.1:p.Phe12693Ser
XM_024453098.1:c.37997T>C (TTN) XP_024308866.1:p.Phe12666Ser
XM_024453099.1:c.19760T>C (TTN) XP_024308867.1:p.Phe6587Ser
XM_024453100.1:c.9614T>C (TTN) XP_024308868.1:p.Phe3205Ser