Canonical Allele Identifier: CA349479856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547735T>G , CM000664.2:g.178547735T>G GRCh38
NC_000002.11:g.179412462T>G , CM000664.1:g.179412462T>G GRCh37
NC_000002.10:g.179120708T>G NCBI36
NG_011618.3:g.288068A>C , LRG_391:g.288068A>C
NG_051363.1:g.29909T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.86187A>C (TTN) ENSP00000343764.6:p.Lys28729Asn
ENST00000342175.11:c.67272A>C (TTN) ENSP00000340554.6:p.Lys22424Asn
ENST00000359218.10:c.67071A>C (TTN) ENSP00000352154.5:p.Lys22357Asn
ENST00000342175.10:c.67272A>C (TTN) ENSP00000340554.6:p.Lys22424Asn
ENST00000342992.10:c.86187A>C (TTN) ENSP00000343764.6:p.Lys28729Asn
ENST00000359218.9:c.67071A>C (TTN) ENSP00000352154.5:p.Lys22357Asn
ENST00000460472.6:c.66696A>C (TTN) ENSP00000434586.1:p.Lys22232Asn
ENST00000589042.5:c.93891A>C (TTN) MANE Select ENSP00000467141.1:p.Lys31297Asn
ENST00000591111.5:c.88968A>C (TTN) ENSP00000465570.1:p.Lys29656Asn
ENST00000615779.4:c.88968A>C (TTN) ENSP00000483597.1:p.Lys29656Asn
NM_001256850.1:c.88968A>C (TTN) NP_001243779.1:p.Lys29656Asn
NM_001267550.2:c.93891A>C (TTN) MANE Select NP_001254479.2:p.Lys31297Asn
NM_003319.4:c.66696A>C (TTN) NP_003310.4:p.Lys22232Asn
NM_133378.4:c.86187A>C (TTN) NP_596869.4:p.Lys28729Asn
NM_133432.3:c.67071A>C (TTN) NP_597676.3:p.Lys22357Asn
NM_133437.4:c.67272A>C (TTN) NP_597681.4:p.Lys22424Asn
NR_038271.1:n.447-23565T>G (TTN-AS1)
NR_038272.1:n.2043+5374T>G (TTN-AS1)
XM_011511729.1:c.92988A>C (TTN) XP_011510031.1:p.Lys30996Asn
XM_011511730.1:c.66882A>C (TTN) XP_011510032.1:p.Lys22294Asn
XM_011511731.1:c.66741A>C (TTN) XP_011510033.1:p.Lys22247Asn
XM_017004819.1:c.92784A>C (TTN) XP_016860308.1:p.Lys30928Asn
XM_017004820.1:c.88182A>C (TTN) XP_016860309.1:p.Lys29394Asn
XM_017004821.1:c.88179A>C (TTN) XP_016860310.1:p.Lys29393Asn
XM_017004822.1:c.85221A>C (TTN) XP_016860311.1:p.Lys28407Asn
XM_017004823.1:c.66837A>C (TTN) XP_016860312.1:p.Lys22279Asn
XM_024453094.1:c.88332A>C (TTN) XP_024308862.1:p.Lys29444Asn
XM_024453095.1:c.88329A>C (TTN) XP_024308863.1:p.Lys29443Asn
XM_024453096.1:c.87762A>C (TTN) XP_024308864.1:p.Lys29254Asn
XM_024453097.1:c.85104A>C (TTN) XP_024308865.1:p.Lys28368Asn
XM_024453098.1:c.85023A>C (TTN) XP_024308866.1:p.Lys28341Asn
XM_024453099.1:c.66786A>C (TTN) XP_024308867.1:p.Lys22262Asn
XM_024453100.1:c.56640A>C (TTN) XP_024308868.1:p.Lys18880Asn