Canonical Allele Identifier: CA349664632

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575986G>T , CM000664.2:g.178575986G>T GRCh38
NC_000002.11:g.179440713G>T , CM000664.1:g.179440713G>T GRCh37
NC_000002.10:g.179148959G>T NCBI36
NG_011618.3:g.259817C>A , LRG_391:g.259817C>A
NG_051363.1:g.58160G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62442C>A (TTN) ENSP00000343764.6:p.Asn20814Lys
ENST00000342175.11:c.43527C>A (TTN) ENSP00000340554.6:p.Asn14509Lys
ENST00000359218.10:c.43326C>A (TTN) ENSP00000352154.5:p.Asn14442Lys
ENST00000342175.10:c.43527C>A (TTN) ENSP00000340554.6:p.Asn14509Lys
ENST00000342992.10:c.62442C>A (TTN) ENSP00000343764.6:p.Asn20814Lys
ENST00000359218.9:c.43326C>A (TTN) ENSP00000352154.5:p.Asn14442Lys
ENST00000460472.6:c.42951C>A (TTN) ENSP00000434586.1:p.Asn14317Lys
ENST00000589042.5:c.70146C>A (TTN) MANE Select ENSP00000467141.1:p.Asn23382Lys
ENST00000591111.5:c.65223C>A (TTN) ENSP00000465570.1:p.Asn21741Lys
ENST00000615779.4:c.65223C>A (TTN) ENSP00000483597.1:p.Asn21741Lys
NM_001256850.1:c.65223C>A (TTN) NP_001243779.1:p.Asn21741Lys
NM_001267550.2:c.70146C>A (TTN) MANE Select NP_001254479.2:p.Asn23382Lys
NM_003319.4:c.42951C>A (TTN) NP_003310.4:p.Asn14317Lys
NM_133378.4:c.62442C>A (TTN) NP_596869.4:p.Asn20814Lys
NM_133432.3:c.43326C>A (TTN) NP_597676.3:p.Asn14442Lys
NM_133437.4:c.43527C>A (TTN) NP_597681.4:p.Asn14509Lys
NR_038271.1:n.596+4537G>T (TTN-AS1)
NR_038272.1:n.2044-6586G>T (TTN-AS1)
XM_011511729.1:c.69243C>A (TTN) XP_011510031.1:p.Asn23081Lys
XM_011511730.1:c.43137C>A (TTN) XP_011510032.1:p.Asn14379Lys
XM_011511731.1:c.42996C>A (TTN) XP_011510033.1:p.Asn14332Lys
XM_017004819.1:c.69039C>A (TTN) XP_016860308.1:p.Asn23013Lys
XM_017004820.1:c.64437C>A (TTN) XP_016860309.1:p.Asn21479Lys
XM_017004821.1:c.64434C>A (TTN) XP_016860310.1:p.Asn21478Lys
XM_017004822.1:c.61476C>A (TTN) XP_016860311.1:p.Asn20492Lys
XM_017004823.1:c.43092C>A (TTN) XP_016860312.1:p.Asn14364Lys
XM_024453094.1:c.64587C>A (TTN) XP_024308862.1:p.Asn21529Lys
XM_024453095.1:c.64584C>A (TTN) XP_024308863.1:p.Asn21528Lys
XM_024453096.1:c.64017C>A (TTN) XP_024308864.1:p.Asn21339Lys
XM_024453097.1:c.61359C>A (TTN) XP_024308865.1:p.Asn20453Lys
XM_024453098.1:c.61278C>A (TTN) XP_024308866.1:p.Asn20426Lys
XM_024453099.1:c.43041C>A (TTN) XP_024308867.1:p.Asn14347Lys
XM_024453100.1:c.32895C>A (TTN) XP_024308868.1:p.Asn10965Lys