Canonical Allele Identifier: CA349406956

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530479A>C , CM000664.2:g.178530479A>C GRCh38
NC_000002.11:g.179395206A>C , CM000664.1:g.179395206A>C GRCh37
NC_000002.10:g.179103452A>C NCBI36
NG_011618.3:g.305324T>G , LRG_391:g.305324T>G
NG_051363.1:g.12653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98432T>G (TTN) ENSP00000343764.6:p.Phe32811Cys
ENST00000342175.11:c.79517T>G (TTN) ENSP00000340554.6:p.Phe26506Cys
ENST00000359218.10:c.79316T>G (TTN) ENSP00000352154.5:p.Phe26439Cys
ENST00000342175.10:c.79517T>G (TTN) ENSP00000340554.6:p.Phe26506Cys
ENST00000342992.10:c.98432T>G (TTN) ENSP00000343764.6:p.Phe32811Cys
ENST00000359218.9:c.79316T>G (TTN) ENSP00000352154.5:p.Phe26439Cys
ENST00000460472.6:c.78941T>G (TTN) ENSP00000434586.1:p.Phe26314Cys
ENST00000589042.5:c.106136T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35379Cys
ENST00000591111.5:c.101213T>G (TTN) ENSP00000465570.1:p.Phe33738Cys
ENST00000615779.4:c.101213T>G (TTN) ENSP00000483597.1:p.Phe33738Cys
NM_001256850.1:c.101213T>G (TTN) NP_001243779.1:p.Phe33738Cys
NM_001267550.2:c.106136T>G (TTN) MANE Select NP_001254479.2:p.Phe35379Cys
NM_003319.4:c.78941T>G (TTN) NP_003310.4:p.Phe26314Cys
NM_133378.4:c.98432T>G (TTN) NP_596869.4:p.Phe32811Cys
NM_133432.3:c.79316T>G (TTN) NP_597676.3:p.Phe26439Cys
NM_133437.4:c.79517T>G (TTN) NP_597681.4:p.Phe26506Cys
NR_038271.1:n.446+6843A>C (TTN-AS1)
NR_038272.1:n.220-5253A>C (TTN-AS1)
XM_011511729.1:c.105233T>G (TTN) XP_011510031.1:p.Phe35078Cys
XM_011511730.1:c.79127T>G (TTN) XP_011510032.1:p.Phe26376Cys
XM_011511731.1:c.78986T>G (TTN) XP_011510033.1:p.Phe26329Cys
XM_017004819.1:c.105029T>G (TTN) XP_016860308.1:p.Phe35010Cys
XM_017004820.1:c.100427T>G (TTN) XP_016860309.1:p.Phe33476Cys
XM_017004821.1:c.100424T>G (TTN) XP_016860310.1:p.Phe33475Cys
XM_017004822.1:c.97466T>G (TTN) XP_016860311.1:p.Phe32489Cys
XM_017004823.1:c.79082T>G (TTN) XP_016860312.1:p.Phe26361Cys
XM_024453094.1:c.100577T>G (TTN) XP_024308862.1:p.Phe33526Cys
XM_024453095.1:c.100574T>G (TTN) XP_024308863.1:p.Phe33525Cys
XM_024453096.1:c.100007T>G (TTN) XP_024308864.1:p.Phe33336Cys
XM_024453097.1:c.97349T>G (TTN) XP_024308865.1:p.Phe32450Cys
XM_024453098.1:c.97268T>G (TTN) XP_024308866.1:p.Phe32423Cys
XM_024453099.1:c.79031T>G (TTN) XP_024308867.1:p.Phe26344Cys
XM_024453100.1:c.68885T>G (TTN) XP_024308868.1:p.Phe22962Cys