Canonical Allele Identifier: CA349427119

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537172T>G , CM000664.2:g.178537172T>G GRCh38
NC_000002.11:g.179401899T>G , CM000664.1:g.179401899T>G GRCh37
NC_000002.10:g.179110145T>G NCBI36
NG_011618.3:g.298631A>C , LRG_391:g.298631A>C
NG_051363.1:g.19346T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92233A>C (TTN) ENSP00000343764.6:p.Lys30745Gln
ENST00000342175.11:c.73318A>C (TTN) ENSP00000340554.6:p.Lys24440Gln
ENST00000359218.10:c.73117A>C (TTN) ENSP00000352154.5:p.Lys24373Gln
ENST00000342175.10:c.73318A>C (TTN) ENSP00000340554.6:p.Lys24440Gln
ENST00000342992.10:c.92233A>C (TTN) ENSP00000343764.6:p.Lys30745Gln
ENST00000359218.9:c.73117A>C (TTN) ENSP00000352154.5:p.Lys24373Gln
ENST00000460472.6:c.72742A>C (TTN) ENSP00000434586.1:p.Lys24248Gln
ENST00000589042.5:c.99937A>C (TTN) MANE Select ENSP00000467141.1:p.Lys33313Gln
ENST00000591111.5:c.95014A>C (TTN) ENSP00000465570.1:p.Lys31672Gln
ENST00000615779.4:c.95014A>C (TTN) ENSP00000483597.1:p.Lys31672Gln
NM_001256850.1:c.95014A>C (TTN) NP_001243779.1:p.Lys31672Gln
NM_001267550.2:c.99937A>C (TTN) MANE Select NP_001254479.2:p.Lys33313Gln
NM_003319.4:c.72742A>C (TTN) NP_003310.4:p.Lys24248Gln
NM_133378.4:c.92233A>C (TTN) NP_596869.4:p.Lys30745Gln
NM_133432.3:c.73117A>C (TTN) NP_597676.3:p.Lys24373Gln
NM_133437.4:c.73318A>C (TTN) NP_597681.4:p.Lys24440Gln
NR_038271.1:n.446+13536T>G (TTN-AS1)
NR_038272.1:n.317-189T>G (TTN-AS1)
XM_011511729.1:c.99034A>C (TTN) XP_011510031.1:p.Lys33012Gln
XM_011511730.1:c.72928A>C (TTN) XP_011510032.1:p.Lys24310Gln
XM_011511731.1:c.72787A>C (TTN) XP_011510033.1:p.Lys24263Gln
XM_017004819.1:c.98830A>C (TTN) XP_016860308.1:p.Lys32944Gln
XM_017004820.1:c.94228A>C (TTN) XP_016860309.1:p.Lys31410Gln
XM_017004821.1:c.94225A>C (TTN) XP_016860310.1:p.Lys31409Gln
XM_017004822.1:c.91267A>C (TTN) XP_016860311.1:p.Lys30423Gln
XM_017004823.1:c.72883A>C (TTN) XP_016860312.1:p.Lys24295Gln
XM_024453094.1:c.94378A>C (TTN) XP_024308862.1:p.Lys31460Gln
XM_024453095.1:c.94375A>C (TTN) XP_024308863.1:p.Lys31459Gln
XM_024453096.1:c.93808A>C (TTN) XP_024308864.1:p.Lys31270Gln
XM_024453097.1:c.91150A>C (TTN) XP_024308865.1:p.Lys30384Gln
XM_024453098.1:c.91069A>C (TTN) XP_024308866.1:p.Lys30357Gln
XM_024453099.1:c.72832A>C (TTN) XP_024308867.1:p.Lys24278Gln
XM_024453100.1:c.62686A>C (TTN) XP_024308868.1:p.Lys20896Gln