Canonical Allele Identifier: CA1992306
Community Standard Title: NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589912T>C , CM000664.2:g.178589912T>C GRCh38
NC_000002.11:g.179454639T>C , CM000664.1:g.179454639T>C GRCh37
NC_000002.10:g.179162885T>C NCBI36
NG_011618.3:g.245891A>G , LRG_391:g.245891A>G
NG_051363.1:g.72086T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61813A>G (TTN) MANE Select NP_001254479.2:p.Ile20605Val
ENST00000589042.5:c.61813A>G (TTN) MANE Select ENSP00000467141.1:p.Ile20605Val
NM_001256850.1:c.56890A>G (TTN) NP_001243779.1:p.Ile18964Val
NM_003319.4:c.34618A>G (TTN) NP_003310.4:p.Ile11540Val
NM_133378.4:c.54109A>G (TTN) NP_596869.4:p.Ile18037Val
NM_133432.3:c.34993A>G (TTN) NP_597676.3:p.Ile11665Val
NM_133437.4:c.35194A>G (TTN) NP_597681.4:p.Ile11732Val
NR_038271.1:n.597-7684T>C (TTN-AS1)
NR_038272.1:n.3189-1227T>C (TTN-AS1)
ENST00000342175.10:c.35194A>G (TTN) ENSP00000340554.6:p.Ile11732Val
ENST00000342175.11:c.35194A>G (TTN) ENSP00000340554.6:p.Ile11732Val
ENST00000342992.10:c.54109A>G (TTN) ENSP00000343764.6:p.Ile18037Val
ENST00000342992.11:c.54109A>G (TTN) ENSP00000343764.6:p.Ile18037Val
ENST00000359218.10:c.34993A>G (TTN) ENSP00000352154.5:p.Ile11665Val
ENST00000359218.9:c.34993A>G (TTN) ENSP00000352154.5:p.Ile11665Val
ENST00000460472.6:c.34618A>G (TTN) ENSP00000434586.1:p.Ile11540Val
ENST00000591111.5:c.56890A>G (TTN) ENSP00000465570.1:p.Ile18964Val
ENST00000615779.4:c.56890A>G (TTN) ENSP00000483597.1:p.Ile18964Val
XM_011511729.1:c.60910A>G (TTN) XP_011510031.1:p.Ile20304Val
XM_011511730.1:c.34804A>G (TTN) XP_011510032.1:p.Ile11602Val
XM_011511731.1:c.34663A>G (TTN) XP_011510033.1:p.Ile11555Val
XM_017004819.1:c.60706A>G (TTN) XP_016860308.1:p.Ile20236Val
XM_017004820.1:c.56104A>G (TTN) XP_016860309.1:p.Ile18702Val
XM_017004821.1:c.56101A>G (TTN) XP_016860310.1:p.Ile18701Val
XM_017004822.1:c.53143A>G (TTN) XP_016860311.1:p.Ile17715Val
XM_017004823.1:c.34759A>G (TTN) XP_016860312.1:p.Ile11587Val
XM_024453094.1:c.56254A>G (TTN) XP_024308862.1:p.Ile18752Val
XM_024453095.1:c.56251A>G (TTN) XP_024308863.1:p.Ile18751Val
XM_024453096.1:c.55684A>G (TTN) XP_024308864.1:p.Ile18562Val
XM_024453097.1:c.53026A>G (TTN) XP_024308865.1:p.Ile17676Val
XM_024453098.1:c.52945A>G (TTN) XP_024308866.1:p.Ile17649Val
XM_024453099.1:c.34708A>G (TTN) XP_024308867.1:p.Ile11570Val
XM_024453100.1:c.24562A>G (TTN) XP_024308868.1:p.Ile8188Val