Canonical Allele Identifier: CA349504075

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551839G>C , CM000664.2:g.178551839G>C GRCh38
NC_000002.11:g.179416566G>C , CM000664.1:g.179416566G>C GRCh37
NC_000002.10:g.179124812G>C NCBI36
NG_011618.3:g.283964C>G , LRG_391:g.283964C>G
NG_051363.1:g.34013G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83357C>G (TTN) ENSP00000343764.6:p.Ser27786Ter
ENST00000342175.11:c.64442C>G (TTN) ENSP00000340554.6:p.Ser21481Ter
ENST00000359218.10:c.64241C>G (TTN) ENSP00000352154.5:p.Ser21414Ter
ENST00000342175.10:c.64442C>G (TTN) ENSP00000340554.6:p.Ser21481Ter
ENST00000342992.10:c.83357C>G (TTN) ENSP00000343764.6:p.Ser27786Ter
ENST00000359218.9:c.64241C>G (TTN) ENSP00000352154.5:p.Ser21414Ter
ENST00000460472.6:c.63866C>G (TTN) ENSP00000434586.1:p.Ser21289Ter
ENST00000589042.5:c.91061C>G (TTN) MANE Select ENSP00000467141.1:p.Ser30354Ter
ENST00000591111.5:c.86138C>G (TTN) ENSP00000465570.1:p.Ser28713Ter
ENST00000615779.4:c.86138C>G (TTN) ENSP00000483597.1:p.Ser28713Ter
NM_001256850.1:c.86138C>G (TTN) NP_001243779.1:p.Ser28713Ter
NM_001267550.2:c.91061C>G (TTN) MANE Select NP_001254479.2:p.Ser30354Ter
NM_003319.4:c.63866C>G (TTN) NP_003310.4:p.Ser21289Ter
NM_133378.4:c.83357C>G (TTN) NP_596869.4:p.Ser27786Ter
NM_133432.3:c.64241C>G (TTN) NP_597676.3:p.Ser21414Ter
NM_133437.4:c.64442C>G (TTN) NP_597681.4:p.Ser21481Ter
NR_038271.1:n.447-19461G>C (TTN-AS1)
NR_038272.1:n.2043+9478G>C (TTN-AS1)
XM_011511729.1:c.90158C>G (TTN) XP_011510031.1:p.Ser30053Ter
XM_011511730.1:c.64052C>G (TTN) XP_011510032.1:p.Ser21351Ter
XM_011511731.1:c.63911C>G (TTN) XP_011510033.1:p.Ser21304Ter
XM_017004819.1:c.89954C>G (TTN) XP_016860308.1:p.Ser29985Ter
XM_017004820.1:c.85352C>G (TTN) XP_016860309.1:p.Ser28451Ter
XM_017004821.1:c.85349C>G (TTN) XP_016860310.1:p.Ser28450Ter
XM_017004822.1:c.82391C>G (TTN) XP_016860311.1:p.Ser27464Ter
XM_017004823.1:c.64007C>G (TTN) XP_016860312.1:p.Ser21336Ter
XM_024453094.1:c.85502C>G (TTN) XP_024308862.1:p.Ser28501Ter
XM_024453095.1:c.85499C>G (TTN) XP_024308863.1:p.Ser28500Ter
XM_024453096.1:c.84932C>G (TTN) XP_024308864.1:p.Ser28311Ter
XM_024453097.1:c.82274C>G (TTN) XP_024308865.1:p.Ser27425Ter
XM_024453098.1:c.82193C>G (TTN) XP_024308866.1:p.Ser27398Ter
XM_024453099.1:c.63956C>G (TTN) XP_024308867.1:p.Ser21319Ter
XM_024453100.1:c.53810C>G (TTN) XP_024308868.1:p.Ser17937Ter