Canonical Allele Identifier: CA349436146

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584692T>G , CM000664.2:g.178584692T>G GRCh38
NC_000002.11:g.179449419T>G , CM000664.1:g.179449419T>G GRCh37
NC_000002.10:g.179157665T>G NCBI36
NG_011618.3:g.251111A>C , LRG_391:g.251111A>C
NG_051363.1:g.66866T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57245A>C (TTN) ENSP00000343764.6:p.Lys19082Thr
ENST00000342175.11:c.38330A>C (TTN) ENSP00000340554.6:p.Lys12777Thr
ENST00000359218.10:c.38129A>C (TTN) ENSP00000352154.5:p.Lys12710Thr
ENST00000342175.10:c.38330A>C (TTN) ENSP00000340554.6:p.Lys12777Thr
ENST00000342992.10:c.57245A>C (TTN) ENSP00000343764.6:p.Lys19082Thr
ENST00000359218.9:c.38129A>C (TTN) ENSP00000352154.5:p.Lys12710Thr
ENST00000460472.6:c.37754A>C (TTN) ENSP00000434586.1:p.Lys12585Thr
ENST00000589042.5:c.64949A>C (TTN) MANE Select ENSP00000467141.1:p.Lys21650Thr
ENST00000591111.5:c.60026A>C (TTN) ENSP00000465570.1:p.Lys20009Thr
ENST00000615779.4:c.60026A>C (TTN) ENSP00000483597.1:p.Lys20009Thr
NM_001256850.1:c.60026A>C (TTN) NP_001243779.1:p.Lys20009Thr
NM_001267550.2:c.64949A>C (TTN) MANE Select NP_001254479.2:p.Lys21650Thr
NM_003319.4:c.37754A>C (TTN) NP_003310.4:p.Lys12585Thr
NM_133378.4:c.57245A>C (TTN) NP_596869.4:p.Lys19082Thr
NM_133432.3:c.38129A>C (TTN) NP_597676.3:p.Lys12710Thr
NM_133437.4:c.38330A>C (TTN) NP_597681.4:p.Lys12777Thr
NR_038271.1:n.597-12904T>G (TTN-AS1)
NR_038272.1:n.2887T>G (TTN-AS1)
XM_011511729.1:c.64046A>C (TTN) XP_011510031.1:p.Lys21349Thr
XM_011511730.1:c.37940A>C (TTN) XP_011510032.1:p.Lys12647Thr
XM_011511731.1:c.37799A>C (TTN) XP_011510033.1:p.Lys12600Thr
XM_017004819.1:c.63842A>C (TTN) XP_016860308.1:p.Lys21281Thr
XM_017004820.1:c.59240A>C (TTN) XP_016860309.1:p.Lys19747Thr
XM_017004821.1:c.59237A>C (TTN) XP_016860310.1:p.Lys19746Thr
XM_017004822.1:c.56279A>C (TTN) XP_016860311.1:p.Lys18760Thr
XM_017004823.1:c.37895A>C (TTN) XP_016860312.1:p.Lys12632Thr
XM_024453094.1:c.59390A>C (TTN) XP_024308862.1:p.Lys19797Thr
XM_024453095.1:c.59387A>C (TTN) XP_024308863.1:p.Lys19796Thr
XM_024453096.1:c.58820A>C (TTN) XP_024308864.1:p.Lys19607Thr
XM_024453097.1:c.56162A>C (TTN) XP_024308865.1:p.Lys18721Thr
XM_024453098.1:c.56081A>C (TTN) XP_024308866.1:p.Lys18694Thr
XM_024453099.1:c.37844A>C (TTN) XP_024308867.1:p.Lys12615Thr
XM_024453100.1:c.27698A>C (TTN) XP_024308868.1:p.Lys9233Thr