Canonical Allele Identifier: CA349502949

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551689G>T , CM000664.2:g.178551689G>T GRCh38
NC_000002.11:g.179416416G>T , CM000664.1:g.179416416G>T GRCh37
NC_000002.10:g.179124662G>T NCBI36
NG_011618.3:g.284114C>A , LRG_391:g.284114C>A
NG_051363.1:g.33863G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83507C>A (TTN) ENSP00000343764.6:p.Ser27836Tyr
ENST00000342175.11:c.64592C>A (TTN) ENSP00000340554.6:p.Ser21531Tyr
ENST00000359218.10:c.64391C>A (TTN) ENSP00000352154.5:p.Ser21464Tyr
ENST00000342175.10:c.64592C>A (TTN) ENSP00000340554.6:p.Ser21531Tyr
ENST00000342992.10:c.83507C>A (TTN) ENSP00000343764.6:p.Ser27836Tyr
ENST00000359218.9:c.64391C>A (TTN) ENSP00000352154.5:p.Ser21464Tyr
ENST00000460472.6:c.64016C>A (TTN) ENSP00000434586.1:p.Ser21339Tyr
ENST00000589042.5:c.91211C>A (TTN) MANE Select ENSP00000467141.1:p.Ser30404Tyr
ENST00000591111.5:c.86288C>A (TTN) ENSP00000465570.1:p.Ser28763Tyr
ENST00000615779.4:c.86288C>A (TTN) ENSP00000483597.1:p.Ser28763Tyr
NM_001256850.1:c.86288C>A (TTN) NP_001243779.1:p.Ser28763Tyr
NM_001267550.2:c.91211C>A (TTN) MANE Select NP_001254479.2:p.Ser30404Tyr
NM_003319.4:c.64016C>A (TTN) NP_003310.4:p.Ser21339Tyr
NM_133378.4:c.83507C>A (TTN) NP_596869.4:p.Ser27836Tyr
NM_133432.3:c.64391C>A (TTN) NP_597676.3:p.Ser21464Tyr
NM_133437.4:c.64592C>A (TTN) NP_597681.4:p.Ser21531Tyr
NR_038271.1:n.447-19611G>T (TTN-AS1)
NR_038272.1:n.2043+9328G>T (TTN-AS1)
XM_011511729.1:c.90308C>A (TTN) XP_011510031.1:p.Ser30103Tyr
XM_011511730.1:c.64202C>A (TTN) XP_011510032.1:p.Ser21401Tyr
XM_011511731.1:c.64061C>A (TTN) XP_011510033.1:p.Ser21354Tyr
XM_017004819.1:c.90104C>A (TTN) XP_016860308.1:p.Ser30035Tyr
XM_017004820.1:c.85502C>A (TTN) XP_016860309.1:p.Ser28501Tyr
XM_017004821.1:c.85499C>A (TTN) XP_016860310.1:p.Ser28500Tyr
XM_017004822.1:c.82541C>A (TTN) XP_016860311.1:p.Ser27514Tyr
XM_017004823.1:c.64157C>A (TTN) XP_016860312.1:p.Ser21386Tyr
XM_024453094.1:c.85652C>A (TTN) XP_024308862.1:p.Ser28551Tyr
XM_024453095.1:c.85649C>A (TTN) XP_024308863.1:p.Ser28550Tyr
XM_024453096.1:c.85082C>A (TTN) XP_024308864.1:p.Ser28361Tyr
XM_024453097.1:c.82424C>A (TTN) XP_024308865.1:p.Ser27475Tyr
XM_024453098.1:c.82343C>A (TTN) XP_024308866.1:p.Ser27448Tyr
XM_024453099.1:c.64106C>A (TTN) XP_024308867.1:p.Ser21369Tyr
XM_024453100.1:c.53960C>A (TTN) XP_024308868.1:p.Ser17987Tyr