Canonical Allele Identifier: CA349664638

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575987T>C , CM000664.2:g.178575987T>C GRCh38
NC_000002.11:g.179440714T>C , CM000664.1:g.179440714T>C GRCh37
NC_000002.10:g.179148960T>C NCBI36
NG_011618.3:g.259816A>G , LRG_391:g.259816A>G
NG_051363.1:g.58161T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62441A>G (TTN) ENSP00000343764.6:p.Asn20814Ser
ENST00000342175.11:c.43526A>G (TTN) ENSP00000340554.6:p.Asn14509Ser
ENST00000359218.10:c.43325A>G (TTN) ENSP00000352154.5:p.Asn14442Ser
ENST00000342175.10:c.43526A>G (TTN) ENSP00000340554.6:p.Asn14509Ser
ENST00000342992.10:c.62441A>G (TTN) ENSP00000343764.6:p.Asn20814Ser
ENST00000359218.9:c.43325A>G (TTN) ENSP00000352154.5:p.Asn14442Ser
ENST00000460472.6:c.42950A>G (TTN) ENSP00000434586.1:p.Asn14317Ser
ENST00000589042.5:c.70145A>G (TTN) MANE Select ENSP00000467141.1:p.Asn23382Ser
ENST00000591111.5:c.65222A>G (TTN) ENSP00000465570.1:p.Asn21741Ser
ENST00000615779.4:c.65222A>G (TTN) ENSP00000483597.1:p.Asn21741Ser
NM_001256850.1:c.65222A>G (TTN) NP_001243779.1:p.Asn21741Ser
NM_001267550.2:c.70145A>G (TTN) MANE Select NP_001254479.2:p.Asn23382Ser
NM_003319.4:c.42950A>G (TTN) NP_003310.4:p.Asn14317Ser
NM_133378.4:c.62441A>G (TTN) NP_596869.4:p.Asn20814Ser
NM_133432.3:c.43325A>G (TTN) NP_597676.3:p.Asn14442Ser
NM_133437.4:c.43526A>G (TTN) NP_597681.4:p.Asn14509Ser
NR_038271.1:n.596+4538T>C (TTN-AS1)
NR_038272.1:n.2044-6585T>C (TTN-AS1)
XM_011511729.1:c.69242A>G (TTN) XP_011510031.1:p.Asn23081Ser
XM_011511730.1:c.43136A>G (TTN) XP_011510032.1:p.Asn14379Ser
XM_011511731.1:c.42995A>G (TTN) XP_011510033.1:p.Asn14332Ser
XM_017004819.1:c.69038A>G (TTN) XP_016860308.1:p.Asn23013Ser
XM_017004820.1:c.64436A>G (TTN) XP_016860309.1:p.Asn21479Ser
XM_017004821.1:c.64433A>G (TTN) XP_016860310.1:p.Asn21478Ser
XM_017004822.1:c.61475A>G (TTN) XP_016860311.1:p.Asn20492Ser
XM_017004823.1:c.43091A>G (TTN) XP_016860312.1:p.Asn14364Ser
XM_024453094.1:c.64586A>G (TTN) XP_024308862.1:p.Asn21529Ser
XM_024453095.1:c.64583A>G (TTN) XP_024308863.1:p.Asn21528Ser
XM_024453096.1:c.64016A>G (TTN) XP_024308864.1:p.Asn21339Ser
XM_024453097.1:c.61358A>G (TTN) XP_024308865.1:p.Asn20453Ser
XM_024453098.1:c.61277A>G (TTN) XP_024308866.1:p.Asn20426Ser
XM_024453099.1:c.43040A>G (TTN) XP_024308867.1:p.Asn14347Ser
XM_024453100.1:c.32894A>G (TTN) XP_024308868.1:p.Asn10965Ser