Canonical Allele Identifier: CA349407020

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530508T>G , CM000664.2:g.178530508T>G GRCh38
NC_000002.11:g.179395235T>G , CM000664.1:g.179395235T>G GRCh37
NC_000002.10:g.179103481T>G NCBI36
NG_011618.3:g.305295A>C , LRG_391:g.305295A>C
NG_051363.1:g.12682T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98403A>C (TTN) ENSP00000343764.6:p.Lys32801Asn
ENST00000342175.11:c.79488A>C (TTN) ENSP00000340554.6:p.Lys26496Asn
ENST00000359218.10:c.79287A>C (TTN) ENSP00000352154.5:p.Lys26429Asn
ENST00000342175.10:c.79488A>C (TTN) ENSP00000340554.6:p.Lys26496Asn
ENST00000342992.10:c.98403A>C (TTN) ENSP00000343764.6:p.Lys32801Asn
ENST00000359218.9:c.79287A>C (TTN) ENSP00000352154.5:p.Lys26429Asn
ENST00000460472.6:c.78912A>C (TTN) ENSP00000434586.1:p.Lys26304Asn
ENST00000589042.5:c.106107A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35369Asn
ENST00000591111.5:c.101184A>C (TTN) ENSP00000465570.1:p.Lys33728Asn
ENST00000615779.4:c.101184A>C (TTN) ENSP00000483597.1:p.Lys33728Asn
NM_001256850.1:c.101184A>C (TTN) NP_001243779.1:p.Lys33728Asn
NM_001267550.2:c.106107A>C (TTN) MANE Select NP_001254479.2:p.Lys35369Asn
NM_003319.4:c.78912A>C (TTN) NP_003310.4:p.Lys26304Asn
NM_133378.4:c.98403A>C (TTN) NP_596869.4:p.Lys32801Asn
NM_133432.3:c.79287A>C (TTN) NP_597676.3:p.Lys26429Asn
NM_133437.4:c.79488A>C (TTN) NP_597681.4:p.Lys26496Asn
NR_038271.1:n.446+6872T>G (TTN-AS1)
NR_038272.1:n.220-5224T>G (TTN-AS1)
XM_011511729.1:c.105204A>C (TTN) XP_011510031.1:p.Lys35068Asn
XM_011511730.1:c.79098A>C (TTN) XP_011510032.1:p.Lys26366Asn
XM_011511731.1:c.78957A>C (TTN) XP_011510033.1:p.Lys26319Asn
XM_017004819.1:c.105000A>C (TTN) XP_016860308.1:p.Lys35000Asn
XM_017004820.1:c.100398A>C (TTN) XP_016860309.1:p.Lys33466Asn
XM_017004821.1:c.100395A>C (TTN) XP_016860310.1:p.Lys33465Asn
XM_017004822.1:c.97437A>C (TTN) XP_016860311.1:p.Lys32479Asn
XM_017004823.1:c.79053A>C (TTN) XP_016860312.1:p.Lys26351Asn
XM_024453094.1:c.100548A>C (TTN) XP_024308862.1:p.Lys33516Asn
XM_024453095.1:c.100545A>C (TTN) XP_024308863.1:p.Lys33515Asn
XM_024453096.1:c.99978A>C (TTN) XP_024308864.1:p.Lys33326Asn
XM_024453097.1:c.97320A>C (TTN) XP_024308865.1:p.Lys32440Asn
XM_024453098.1:c.97239A>C (TTN) XP_024308866.1:p.Lys32413Asn
XM_024453099.1:c.79002A>C (TTN) XP_024308867.1:p.Lys26334Asn
XM_024453100.1:c.68856A>C (TTN) XP_024308868.1:p.Lys22952Asn