Canonical Allele Identifier: CA349406957

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98432T>C (TTN) ENSP00000343764.6:p.Phe32811Ser
ENST00000342175.11:c.79517T>C (TTN) ENSP00000340554.6:p.Phe26506Ser
ENST00000359218.10:c.79316T>C (TTN) ENSP00000352154.5:p.Phe26439Ser
ENST00000342175.10:c.79517T>C (TTN) ENSP00000340554.6:p.Phe26506Ser
ENST00000342992.10:c.98432T>C (TTN) ENSP00000343764.6:p.Phe32811Ser
ENST00000359218.9:c.79316T>C (TTN) ENSP00000352154.5:p.Phe26439Ser
ENST00000460472.6:c.78941T>C (TTN) ENSP00000434586.1:p.Phe26314Ser
ENST00000589042.5:c.106136T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35379Ser
ENST00000591111.5:c.101213T>C (TTN) ENSP00000465570.1:p.Phe33738Ser
ENST00000615779.4:c.101213T>C (TTN) ENSP00000483597.1:p.Phe33738Ser
NM_001256850.1:c.101213T>C (TTN) NP_001243779.1:p.Phe33738Ser
NM_001267550.2:c.106136T>C (TTN) MANE Select NP_001254479.2:p.Phe35379Ser
NM_003319.4:c.78941T>C (TTN) NP_003310.4:p.Phe26314Ser
NM_133378.4:c.98432T>C (TTN) NP_596869.4:p.Phe32811Ser
NM_133432.3:c.79316T>C (TTN) NP_597676.3:p.Phe26439Ser
NM_133437.4:c.79517T>C (TTN) NP_597681.4:p.Phe26506Ser
NR_038271.1:n.446+6843A>G (TTN-AS1)
NR_038272.1:n.220-5253A>G (TTN-AS1)
XM_011511729.1:c.105233T>C (TTN) XP_011510031.1:p.Phe35078Ser
XM_011511730.1:c.79127T>C (TTN) XP_011510032.1:p.Phe26376Ser
XM_011511731.1:c.78986T>C (TTN) XP_011510033.1:p.Phe26329Ser
XM_017004819.1:c.105029T>C (TTN) XP_016860308.1:p.Phe35010Ser
XM_017004820.1:c.100427T>C (TTN) XP_016860309.1:p.Phe33476Ser
XM_017004821.1:c.100424T>C (TTN) XP_016860310.1:p.Phe33475Ser
XM_017004822.1:c.97466T>C (TTN) XP_016860311.1:p.Phe32489Ser
XM_017004823.1:c.79082T>C (TTN) XP_016860312.1:p.Phe26361Ser
XM_024453094.1:c.100577T>C (TTN) XP_024308862.1:p.Phe33526Ser
XM_024453095.1:c.100574T>C (TTN) XP_024308863.1:p.Phe33525Ser
XM_024453096.1:c.100007T>C (TTN) XP_024308864.1:p.Phe33336Ser
XM_024453097.1:c.97349T>C (TTN) XP_024308865.1:p.Phe32450Ser
XM_024453098.1:c.97268T>C (TTN) XP_024308866.1:p.Phe32423Ser
XM_024453099.1:c.79031T>C (TTN) XP_024308867.1:p.Phe26344Ser
XM_024453100.1:c.68885T>C (TTN) XP_024308868.1:p.Phe22962Ser