Canonical Allele Identifier: CA349435416

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584473C>T , CM000664.2:g.178584473C>T GRCh38
NC_000002.11:g.179449200C>T , CM000664.1:g.179449200C>T GRCh37
NC_000002.10:g.179157446C>T NCBI36
NG_011618.3:g.251330G>A , LRG_391:g.251330G>A
NG_051363.1:g.66647C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57374G>A (TTN) ENSP00000343764.6:p.Gly19125Asp
ENST00000342175.11:c.38459G>A (TTN) ENSP00000340554.6:p.Gly12820Asp
ENST00000359218.10:c.38258G>A (TTN) ENSP00000352154.5:p.Gly12753Asp
ENST00000342175.10:c.38459G>A (TTN) ENSP00000340554.6:p.Gly12820Asp
ENST00000342992.10:c.57374G>A (TTN) ENSP00000343764.6:p.Gly19125Asp
ENST00000359218.9:c.38258G>A (TTN) ENSP00000352154.5:p.Gly12753Asp
ENST00000460472.6:c.37883G>A (TTN) ENSP00000434586.1:p.Gly12628Asp
ENST00000589042.5:c.65078G>A (TTN) MANE Select ENSP00000467141.1:p.Gly21693Asp
ENST00000591111.5:c.60155G>A (TTN) ENSP00000465570.1:p.Gly20052Asp
ENST00000615779.4:c.60155G>A (TTN) ENSP00000483597.1:p.Gly20052Asp
NM_001256850.1:c.60155G>A (TTN) NP_001243779.1:p.Gly20052Asp
NM_001267550.2:c.65078G>A (TTN) MANE Select NP_001254479.2:p.Gly21693Asp
NM_003319.4:c.37883G>A (TTN) NP_003310.4:p.Gly12628Asp
NM_133378.4:c.57374G>A (TTN) NP_596869.4:p.Gly19125Asp
NM_133432.3:c.38258G>A (TTN) NP_597676.3:p.Gly12753Asp
NM_133437.4:c.38459G>A (TTN) NP_597681.4:p.Gly12820Asp
NR_038271.1:n.596+13024C>T (TTN-AS1)
NR_038272.1:n.2768-100C>T (TTN-AS1)
XM_011511729.1:c.64175G>A (TTN) XP_011510031.1:p.Gly21392Asp
XM_011511730.1:c.38069G>A (TTN) XP_011510032.1:p.Gly12690Asp
XM_011511731.1:c.37928G>A (TTN) XP_011510033.1:p.Gly12643Asp
XM_017004819.1:c.63971G>A (TTN) XP_016860308.1:p.Gly21324Asp
XM_017004820.1:c.59369G>A (TTN) XP_016860309.1:p.Gly19790Asp
XM_017004821.1:c.59366G>A (TTN) XP_016860310.1:p.Gly19789Asp
XM_017004822.1:c.56408G>A (TTN) XP_016860311.1:p.Gly18803Asp
XM_017004823.1:c.38024G>A (TTN) XP_016860312.1:p.Gly12675Asp
XM_024453094.1:c.59519G>A (TTN) XP_024308862.1:p.Gly19840Asp
XM_024453095.1:c.59516G>A (TTN) XP_024308863.1:p.Gly19839Asp
XM_024453096.1:c.58949G>A (TTN) XP_024308864.1:p.Gly19650Asp
XM_024453097.1:c.56291G>A (TTN) XP_024308865.1:p.Gly18764Asp
XM_024453098.1:c.56210G>A (TTN) XP_024308866.1:p.Gly18737Asp
XM_024453099.1:c.37973G>A (TTN) XP_024308867.1:p.Gly12658Asp
XM_024453100.1:c.27827G>A (TTN) XP_024308868.1:p.Gly9276Asp