Canonical Allele Identifier: CA349400215

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527611T>G , CM000664.2:g.178527611T>G GRCh38
NC_000002.11:g.179392338T>G , CM000664.1:g.179392338T>G GRCh37
NC_000002.10:g.179100584T>G NCBI36
NG_011618.3:g.308192A>C , LRG_391:g.308192A>C
NG_051363.1:g.9785T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99811A>C (TTN) ENSP00000343764.6:p.Ser33271Arg
ENST00000342175.11:c.80896A>C (TTN) ENSP00000340554.6:p.Ser26966Arg
ENST00000359218.10:c.80695A>C (TTN) ENSP00000352154.5:p.Ser26899Arg
ENST00000342175.10:c.80896A>C (TTN) ENSP00000340554.6:p.Ser26966Arg
ENST00000342992.10:c.99811A>C (TTN) ENSP00000343764.6:p.Ser33271Arg
ENST00000359218.9:c.80695A>C (TTN) ENSP00000352154.5:p.Ser26899Arg
ENST00000460472.6:c.80320A>C (TTN) ENSP00000434586.1:p.Ser26774Arg
ENST00000589042.5:c.107515A>C (TTN) MANE Select ENSP00000467141.1:p.Ser35839Arg
ENST00000591111.5:c.102592A>C (TTN) ENSP00000465570.1:p.Ser34198Arg
ENST00000615779.4:c.102592A>C (TTN) ENSP00000483597.1:p.Ser34198Arg
NM_001256850.1:c.102592A>C (TTN) NP_001243779.1:p.Ser34198Arg
NM_001267550.2:c.107515A>C (TTN) MANE Select NP_001254479.2:p.Ser35839Arg
NM_003319.4:c.80320A>C (TTN) NP_003310.4:p.Ser26774Arg
NM_133378.4:c.99811A>C (TTN) NP_596869.4:p.Ser33271Arg
NM_133432.3:c.80695A>C (TTN) NP_597676.3:p.Ser26899Arg
NM_133437.4:c.80896A>C (TTN) NP_597681.4:p.Ser26966Arg
NR_038271.1:n.446+3975T>G (TTN-AS1)
NR_038272.1:n.219+3975T>G (TTN-AS1)
XM_011511729.1:c.106612A>C (TTN) XP_011510031.1:p.Ser35538Arg
XM_011511730.1:c.80506A>C (TTN) XP_011510032.1:p.Ser26836Arg
XM_011511731.1:c.80365A>C (TTN) XP_011510033.1:p.Ser26789Arg
XM_017004819.1:c.106408A>C (TTN) XP_016860308.1:p.Ser35470Arg
XM_017004820.1:c.101806A>C (TTN) XP_016860309.1:p.Ser33936Arg
XM_017004821.1:c.101803A>C (TTN) XP_016860310.1:p.Ser33935Arg
XM_017004822.1:c.98845A>C (TTN) XP_016860311.1:p.Ser32949Arg
XM_017004823.1:c.80461A>C (TTN) XP_016860312.1:p.Ser26821Arg
XM_024453094.1:c.101956A>C (TTN) XP_024308862.1:p.Ser33986Arg
XM_024453095.1:c.101953A>C (TTN) XP_024308863.1:p.Ser33985Arg
XM_024453096.1:c.101386A>C (TTN) XP_024308864.1:p.Ser33796Arg
XM_024453097.1:c.98728A>C (TTN) XP_024308865.1:p.Ser32910Arg
XM_024453098.1:c.98647A>C (TTN) XP_024308866.1:p.Ser32883Arg
XM_024453099.1:c.80410A>C (TTN) XP_024308867.1:p.Ser26804Arg
XM_024453100.1:c.70264A>C (TTN) XP_024308868.1:p.Ser23422Arg