Canonical Allele Identifier: CA349502902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551684C>T , CM000664.2:g.178551684C>T GRCh38
NC_000002.11:g.179416411C>T , CM000664.1:g.179416411C>T GRCh37
NC_000002.10:g.179124657C>T NCBI36
NG_011618.3:g.284119G>A , LRG_391:g.284119G>A
NG_051363.1:g.33858C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83512G>A (TTN) ENSP00000343764.6:p.Gly27838Ser
ENST00000342175.11:c.64597G>A (TTN) ENSP00000340554.6:p.Gly21533Ser
ENST00000359218.10:c.64396G>A (TTN) ENSP00000352154.5:p.Gly21466Ser
ENST00000342175.10:c.64597G>A (TTN) ENSP00000340554.6:p.Gly21533Ser
ENST00000342992.10:c.83512G>A (TTN) ENSP00000343764.6:p.Gly27838Ser
ENST00000359218.9:c.64396G>A (TTN) ENSP00000352154.5:p.Gly21466Ser
ENST00000460472.6:c.64021G>A (TTN) ENSP00000434586.1:p.Gly21341Ser
ENST00000589042.5:c.91216G>A (TTN) MANE Select ENSP00000467141.1:p.Gly30406Ser
ENST00000591111.5:c.86293G>A (TTN) ENSP00000465570.1:p.Gly28765Ser
ENST00000615779.4:c.86293G>A (TTN) ENSP00000483597.1:p.Gly28765Ser
NM_001256850.1:c.86293G>A (TTN) NP_001243779.1:p.Gly28765Ser
NM_001267550.2:c.91216G>A (TTN) MANE Select NP_001254479.2:p.Gly30406Ser
NM_003319.4:c.64021G>A (TTN) NP_003310.4:p.Gly21341Ser
NM_133378.4:c.83512G>A (TTN) NP_596869.4:p.Gly27838Ser
NM_133432.3:c.64396G>A (TTN) NP_597676.3:p.Gly21466Ser
NM_133437.4:c.64597G>A (TTN) NP_597681.4:p.Gly21533Ser
NR_038271.1:n.447-19616C>T (TTN-AS1)
NR_038272.1:n.2043+9323C>T (TTN-AS1)
XM_011511729.1:c.90313G>A (TTN) XP_011510031.1:p.Gly30105Ser
XM_011511730.1:c.64207G>A (TTN) XP_011510032.1:p.Gly21403Ser
XM_011511731.1:c.64066G>A (TTN) XP_011510033.1:p.Gly21356Ser
XM_017004819.1:c.90109G>A (TTN) XP_016860308.1:p.Gly30037Ser
XM_017004820.1:c.85507G>A (TTN) XP_016860309.1:p.Gly28503Ser
XM_017004821.1:c.85504G>A (TTN) XP_016860310.1:p.Gly28502Ser
XM_017004822.1:c.82546G>A (TTN) XP_016860311.1:p.Gly27516Ser
XM_017004823.1:c.64162G>A (TTN) XP_016860312.1:p.Gly21388Ser
XM_024453094.1:c.85657G>A (TTN) XP_024308862.1:p.Gly28553Ser
XM_024453095.1:c.85654G>A (TTN) XP_024308863.1:p.Gly28552Ser
XM_024453096.1:c.85087G>A (TTN) XP_024308864.1:p.Gly28363Ser
XM_024453097.1:c.82429G>A (TTN) XP_024308865.1:p.Gly27477Ser
XM_024453098.1:c.82348G>A (TTN) XP_024308866.1:p.Gly27450Ser
XM_024453099.1:c.64111G>A (TTN) XP_024308867.1:p.Gly21371Ser
XM_024453100.1:c.53965G>A (TTN) XP_024308868.1:p.Gly17989Ser