Canonical Allele Identifier: CA349435412

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57374G>T (TTN) ENSP00000343764.6:p.Gly19125Val
ENST00000342175.11:c.38459G>T (TTN) ENSP00000340554.6:p.Gly12820Val
ENST00000359218.10:c.38258G>T (TTN) ENSP00000352154.5:p.Gly12753Val
ENST00000342175.10:c.38459G>T (TTN) ENSP00000340554.6:p.Gly12820Val
ENST00000342992.10:c.57374G>T (TTN) ENSP00000343764.6:p.Gly19125Val
ENST00000359218.9:c.38258G>T (TTN) ENSP00000352154.5:p.Gly12753Val
ENST00000460472.6:c.37883G>T (TTN) ENSP00000434586.1:p.Gly12628Val
ENST00000589042.5:c.65078G>T (TTN) MANE Select ENSP00000467141.1:p.Gly21693Val
ENST00000591111.5:c.60155G>T (TTN) ENSP00000465570.1:p.Gly20052Val
ENST00000615779.4:c.60155G>T (TTN) ENSP00000483597.1:p.Gly20052Val
NM_001256850.1:c.60155G>T (TTN) NP_001243779.1:p.Gly20052Val
NM_001267550.2:c.65078G>T (TTN) MANE Select NP_001254479.2:p.Gly21693Val
NM_003319.4:c.37883G>T (TTN) NP_003310.4:p.Gly12628Val
NM_133378.4:c.57374G>T (TTN) NP_596869.4:p.Gly19125Val
NM_133432.3:c.38258G>T (TTN) NP_597676.3:p.Gly12753Val
NM_133437.4:c.38459G>T (TTN) NP_597681.4:p.Gly12820Val
NR_038271.1:n.596+13024C>A (TTN-AS1)
NR_038272.1:n.2768-100C>A (TTN-AS1)
XM_011511729.1:c.64175G>T (TTN) XP_011510031.1:p.Gly21392Val
XM_011511730.1:c.38069G>T (TTN) XP_011510032.1:p.Gly12690Val
XM_011511731.1:c.37928G>T (TTN) XP_011510033.1:p.Gly12643Val
XM_017004819.1:c.63971G>T (TTN) XP_016860308.1:p.Gly21324Val
XM_017004820.1:c.59369G>T (TTN) XP_016860309.1:p.Gly19790Val
XM_017004821.1:c.59366G>T (TTN) XP_016860310.1:p.Gly19789Val
XM_017004822.1:c.56408G>T (TTN) XP_016860311.1:p.Gly18803Val
XM_017004823.1:c.38024G>T (TTN) XP_016860312.1:p.Gly12675Val
XM_024453094.1:c.59519G>T (TTN) XP_024308862.1:p.Gly19840Val
XM_024453095.1:c.59516G>T (TTN) XP_024308863.1:p.Gly19839Val
XM_024453096.1:c.58949G>T (TTN) XP_024308864.1:p.Gly19650Val
XM_024453097.1:c.56291G>T (TTN) XP_024308865.1:p.Gly18764Val
XM_024453098.1:c.56210G>T (TTN) XP_024308866.1:p.Gly18737Val
XM_024453099.1:c.37973G>T (TTN) XP_024308867.1:p.Gly12658Val
XM_024453100.1:c.27827G>T (TTN) XP_024308868.1:p.Gly9276Val