Canonical Allele Identifier: CA349427113

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537170T>G , CM000664.2:g.178537170T>G GRCh38
NC_000002.11:g.179401897T>G , CM000664.1:g.179401897T>G GRCh37
NC_000002.10:g.179110143T>G NCBI36
NG_011618.3:g.298633A>C , LRG_391:g.298633A>C
NG_051363.1:g.19344T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92235A>C (TTN) ENSP00000343764.6:p.Lys30745Asn
ENST00000342175.11:c.73320A>C (TTN) ENSP00000340554.6:p.Lys24440Asn
ENST00000359218.10:c.73119A>C (TTN) ENSP00000352154.5:p.Lys24373Asn
ENST00000342175.10:c.73320A>C (TTN) ENSP00000340554.6:p.Lys24440Asn
ENST00000342992.10:c.92235A>C (TTN) ENSP00000343764.6:p.Lys30745Asn
ENST00000359218.9:c.73119A>C (TTN) ENSP00000352154.5:p.Lys24373Asn
ENST00000460472.6:c.72744A>C (TTN) ENSP00000434586.1:p.Lys24248Asn
ENST00000589042.5:c.99939A>C (TTN) MANE Select ENSP00000467141.1:p.Lys33313Asn
ENST00000591111.5:c.95016A>C (TTN) ENSP00000465570.1:p.Lys31672Asn
ENST00000615779.4:c.95016A>C (TTN) ENSP00000483597.1:p.Lys31672Asn
NM_001256850.1:c.95016A>C (TTN) NP_001243779.1:p.Lys31672Asn
NM_001267550.2:c.99939A>C (TTN) MANE Select NP_001254479.2:p.Lys33313Asn
NM_003319.4:c.72744A>C (TTN) NP_003310.4:p.Lys24248Asn
NM_133378.4:c.92235A>C (TTN) NP_596869.4:p.Lys30745Asn
NM_133432.3:c.73119A>C (TTN) NP_597676.3:p.Lys24373Asn
NM_133437.4:c.73320A>C (TTN) NP_597681.4:p.Lys24440Asn
NR_038271.1:n.446+13534T>G (TTN-AS1)
NR_038272.1:n.317-191T>G (TTN-AS1)
XM_011511729.1:c.99036A>C (TTN) XP_011510031.1:p.Lys33012Asn
XM_011511730.1:c.72930A>C (TTN) XP_011510032.1:p.Lys24310Asn
XM_011511731.1:c.72789A>C (TTN) XP_011510033.1:p.Lys24263Asn
XM_017004819.1:c.98832A>C (TTN) XP_016860308.1:p.Lys32944Asn
XM_017004820.1:c.94230A>C (TTN) XP_016860309.1:p.Lys31410Asn
XM_017004821.1:c.94227A>C (TTN) XP_016860310.1:p.Lys31409Asn
XM_017004822.1:c.91269A>C (TTN) XP_016860311.1:p.Lys30423Asn
XM_017004823.1:c.72885A>C (TTN) XP_016860312.1:p.Lys24295Asn
XM_024453094.1:c.94380A>C (TTN) XP_024308862.1:p.Lys31460Asn
XM_024453095.1:c.94377A>C (TTN) XP_024308863.1:p.Lys31459Asn
XM_024453096.1:c.93810A>C (TTN) XP_024308864.1:p.Lys31270Asn
XM_024453097.1:c.91152A>C (TTN) XP_024308865.1:p.Lys30384Asn
XM_024453098.1:c.91071A>C (TTN) XP_024308866.1:p.Lys30357Asn
XM_024453099.1:c.72834A>C (TTN) XP_024308867.1:p.Lys24278Asn
XM_024453100.1:c.62688A>C (TTN) XP_024308868.1:p.Lys20896Asn