Canonical Allele Identifier: CA349601321

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567389T>G , CM000664.2:g.178567389T>G GRCh38
NC_000002.11:g.179432116T>G , CM000664.1:g.179432116T>G GRCh37
NC_000002.10:g.179140362T>G NCBI36
NG_011618.3:g.268414A>C , LRG_391:g.268414A>C
NG_051363.1:g.49563T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71039A>C (TTN) ENSP00000343764.6:p.Lys23680Thr
ENST00000342175.11:c.52124A>C (TTN) ENSP00000340554.6:p.Lys17375Thr
ENST00000359218.10:c.51923A>C (TTN) ENSP00000352154.5:p.Lys17308Thr
ENST00000342175.10:c.52124A>C (TTN) ENSP00000340554.6:p.Lys17375Thr
ENST00000342992.10:c.71039A>C (TTN) ENSP00000343764.6:p.Lys23680Thr
ENST00000359218.9:c.51923A>C (TTN) ENSP00000352154.5:p.Lys17308Thr
ENST00000460472.6:c.51548A>C (TTN) ENSP00000434586.1:p.Lys17183Thr
ENST00000589042.5:c.78743A>C (TTN) MANE Select ENSP00000467141.1:p.Lys26248Thr
ENST00000591111.5:c.73820A>C (TTN) ENSP00000465570.1:p.Lys24607Thr
ENST00000615779.4:c.73820A>C (TTN) ENSP00000483597.1:p.Lys24607Thr
NM_001256850.1:c.73820A>C (TTN) NP_001243779.1:p.Lys24607Thr
NM_001267550.2:c.78743A>C (TTN) MANE Select NP_001254479.2:p.Lys26248Thr
NM_003319.4:c.51548A>C (TTN) NP_003310.4:p.Lys17183Thr
NM_133378.4:c.71039A>C (TTN) NP_596869.4:p.Lys23680Thr
NM_133432.3:c.51923A>C (TTN) NP_597676.3:p.Lys17308Thr
NM_133437.4:c.52124A>C (TTN) NP_597681.4:p.Lys17375Thr
NR_038271.1:n.447-3911T>G (TTN-AS1)
NR_038272.1:n.2044-15183T>G (TTN-AS1)
XM_011511729.1:c.77840A>C (TTN) XP_011510031.1:p.Lys25947Thr
XM_011511730.1:c.51734A>C (TTN) XP_011510032.1:p.Lys17245Thr
XM_011511731.1:c.51593A>C (TTN) XP_011510033.1:p.Lys17198Thr
XM_017004819.1:c.77636A>C (TTN) XP_016860308.1:p.Lys25879Thr
XM_017004820.1:c.73034A>C (TTN) XP_016860309.1:p.Lys24345Thr
XM_017004821.1:c.73031A>C (TTN) XP_016860310.1:p.Lys24344Thr
XM_017004822.1:c.70073A>C (TTN) XP_016860311.1:p.Lys23358Thr
XM_017004823.1:c.51689A>C (TTN) XP_016860312.1:p.Lys17230Thr
XM_024453094.1:c.73184A>C (TTN) XP_024308862.1:p.Lys24395Thr
XM_024453095.1:c.73181A>C (TTN) XP_024308863.1:p.Lys24394Thr
XM_024453096.1:c.72614A>C (TTN) XP_024308864.1:p.Lys24205Thr
XM_024453097.1:c.69956A>C (TTN) XP_024308865.1:p.Lys23319Thr
XM_024453098.1:c.69875A>C (TTN) XP_024308866.1:p.Lys23292Thr
XM_024453099.1:c.51638A>C (TTN) XP_024308867.1:p.Lys17213Thr
XM_024453100.1:c.41492A>C (TTN) XP_024308868.1:p.Lys13831Thr