Canonical Allele Identifier: CA349616351

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569885T>C , CM000664.2:g.178569885T>C GRCh38
NC_000002.11:g.179434612T>C , CM000664.1:g.179434612T>C GRCh37
NC_000002.10:g.179142858T>C NCBI36
NG_011618.3:g.265918A>G , LRG_391:g.265918A>G
NG_051363.1:g.52059T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68543A>G (TTN) ENSP00000343764.6:p.Asp22848Gly
ENST00000342175.11:c.49628A>G (TTN) ENSP00000340554.6:p.Asp16543Gly
ENST00000359218.10:c.49427A>G (TTN) ENSP00000352154.5:p.Asp16476Gly
ENST00000342175.10:c.49628A>G (TTN) ENSP00000340554.6:p.Asp16543Gly
ENST00000342992.10:c.68543A>G (TTN) ENSP00000343764.6:p.Asp22848Gly
ENST00000359218.9:c.49427A>G (TTN) ENSP00000352154.5:p.Asp16476Gly
ENST00000460472.6:c.49052A>G (TTN) ENSP00000434586.1:p.Asp16351Gly
ENST00000589042.5:c.76247A>G (TTN) MANE Select ENSP00000467141.1:p.Asp25416Gly
ENST00000591111.5:c.71324A>G (TTN) ENSP00000465570.1:p.Asp23775Gly
ENST00000615779.4:c.71324A>G (TTN) ENSP00000483597.1:p.Asp23775Gly
NM_001256850.1:c.71324A>G (TTN) NP_001243779.1:p.Asp23775Gly
NM_001267550.2:c.76247A>G (TTN) MANE Select NP_001254479.2:p.Asp25416Gly
NM_003319.4:c.49052A>G (TTN) NP_003310.4:p.Asp16351Gly
NM_133378.4:c.68543A>G (TTN) NP_596869.4:p.Asp22848Gly
NM_133432.3:c.49427A>G (TTN) NP_597676.3:p.Asp16476Gly
NM_133437.4:c.49628A>G (TTN) NP_597681.4:p.Asp16543Gly
NR_038271.1:n.447-1415T>C (TTN-AS1)
NR_038272.1:n.2044-12687T>C (TTN-AS1)
XM_011511729.1:c.75344A>G (TTN) XP_011510031.1:p.Asp25115Gly
XM_011511730.1:c.49238A>G (TTN) XP_011510032.1:p.Asp16413Gly
XM_011511731.1:c.49097A>G (TTN) XP_011510033.1:p.Asp16366Gly
XM_017004819.1:c.75140A>G (TTN) XP_016860308.1:p.Asp25047Gly
XM_017004820.1:c.70538A>G (TTN) XP_016860309.1:p.Asp23513Gly
XM_017004821.1:c.70535A>G (TTN) XP_016860310.1:p.Asp23512Gly
XM_017004822.1:c.67577A>G (TTN) XP_016860311.1:p.Asp22526Gly
XM_017004823.1:c.49193A>G (TTN) XP_016860312.1:p.Asp16398Gly
XM_024453094.1:c.70688A>G (TTN) XP_024308862.1:p.Asp23563Gly
XM_024453095.1:c.70685A>G (TTN) XP_024308863.1:p.Asp23562Gly
XM_024453096.1:c.70118A>G (TTN) XP_024308864.1:p.Asp23373Gly
XM_024453097.1:c.67460A>G (TTN) XP_024308865.1:p.Asp22487Gly
XM_024453098.1:c.67379A>G (TTN) XP_024308866.1:p.Asp22460Gly
XM_024453099.1:c.49142A>G (TTN) XP_024308867.1:p.Asp16381Gly
XM_024453100.1:c.38996A>G (TTN) XP_024308868.1:p.Asp12999Gly