Canonical Allele Identifier: CA349564212

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562305C>A , CM000664.2:g.178562305C>A GRCh38
NC_000002.11:g.179427032C>A , CM000664.1:g.179427032C>A GRCh37
NC_000002.10:g.179135278C>A NCBI36
NG_011618.3:g.273498G>T , LRG_391:g.273498G>T
NG_051363.1:g.44479C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76123G>T (TTN) ENSP00000343764.6:p.Gly25375Ter
ENST00000342175.11:c.57208G>T (TTN) ENSP00000340554.6:p.Gly19070Ter
ENST00000359218.10:c.57007G>T (TTN) ENSP00000352154.5:p.Gly19003Ter
ENST00000342175.10:c.57208G>T (TTN) ENSP00000340554.6:p.Gly19070Ter
ENST00000342992.10:c.76123G>T (TTN) ENSP00000343764.6:p.Gly25375Ter
ENST00000359218.9:c.57007G>T (TTN) ENSP00000352154.5:p.Gly19003Ter
ENST00000460472.6:c.56632G>T (TTN) ENSP00000434586.1:p.Gly18878Ter
ENST00000589042.5:c.83827G>T (TTN) MANE Select ENSP00000467141.1:p.Gly27943Ter
ENST00000591111.5:c.78904G>T (TTN) ENSP00000465570.1:p.Gly26302Ter
ENST00000615779.4:c.78904G>T (TTN) ENSP00000483597.1:p.Gly26302Ter
NM_001256850.1:c.78904G>T (TTN) NP_001243779.1:p.Gly26302Ter
NM_001267550.2:c.83827G>T (TTN) MANE Select NP_001254479.2:p.Gly27943Ter
NM_003319.4:c.56632G>T (TTN) NP_003310.4:p.Gly18878Ter
NM_133378.4:c.76123G>T (TTN) NP_596869.4:p.Gly25375Ter
NM_133432.3:c.57007G>T (TTN) NP_597676.3:p.Gly19003Ter
NM_133437.4:c.57208G>T (TTN) NP_597681.4:p.Gly19070Ter
NR_038271.1:n.447-8995C>A (TTN-AS1)
NR_038272.1:n.2043+19944C>A (TTN-AS1)
XM_011511729.1:c.82924G>T (TTN) XP_011510031.1:p.Gly27642Ter
XM_011511730.1:c.56818G>T (TTN) XP_011510032.1:p.Gly18940Ter
XM_011511731.1:c.56677G>T (TTN) XP_011510033.1:p.Gly18893Ter
XM_017004819.1:c.82720G>T (TTN) XP_016860308.1:p.Gly27574Ter
XM_017004820.1:c.78118G>T (TTN) XP_016860309.1:p.Gly26040Ter
XM_017004821.1:c.78115G>T (TTN) XP_016860310.1:p.Gly26039Ter
XM_017004822.1:c.75157G>T (TTN) XP_016860311.1:p.Gly25053Ter
XM_017004823.1:c.56773G>T (TTN) XP_016860312.1:p.Gly18925Ter
XM_024453094.1:c.78268G>T (TTN) XP_024308862.1:p.Gly26090Ter
XM_024453095.1:c.78265G>T (TTN) XP_024308863.1:p.Gly26089Ter
XM_024453096.1:c.77698G>T (TTN) XP_024308864.1:p.Gly25900Ter
XM_024453097.1:c.75040G>T (TTN) XP_024308865.1:p.Gly25014Ter
XM_024453098.1:c.74959G>T (TTN) XP_024308866.1:p.Gly24987Ter
XM_024453099.1:c.56722G>T (TTN) XP_024308867.1:p.Gly18908Ter
XM_024453100.1:c.46576G>T (TTN) XP_024308868.1:p.Gly15526Ter