Canonical Allele Identifier: CA349665302
Community Standard Title: NM_001267550.2(TTN):c.70031T>G (p.Phe23344Cys)
Gene: TTN HGNC NCBI
TTN-AS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576101A>C , CM000664.2:g.178576101A>C GRCh38
NC_000002.11:g.179440828A>C , CM000664.1:g.179440828A>C GRCh37
NC_000002.10:g.179149074A>C NCBI36
NG_011618.3:g.259702T>G , LRG_391:g.259702T>G
NG_051363.1:g.58275A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70031T>G (TTN) MANE Select NP_001254479.2:p.Phe23344Cys
ENST00000589042.5:c.70031T>G (TTN) MANE Select ENSP00000467141.1:p.Phe23344Cys
NM_001256850.1:c.65108T>G (TTN) NP_001243779.1:p.Phe21703Cys
NM_003319.4:c.42836T>G (TTN) NP_003310.4:p.Phe14279Cys
NM_133378.4:c.62327T>G (TTN) NP_596869.4:p.Phe20776Cys
NM_133432.3:c.43211T>G (TTN) NP_597676.3:p.Phe14404Cys
NM_133437.4:c.43412T>G (TTN) NP_597681.4:p.Phe14471Cys
NR_038271.1:n.596+4652A>C (TTN-AS1)
NR_038272.1:n.2044-6471A>C (TTN-AS1)
ENST00000342175.10:c.43412T>G (TTN) ENSP00000340554.6:p.Phe14471Cys
ENST00000342175.11:c.43412T>G (TTN) ENSP00000340554.6:p.Phe14471Cys
ENST00000342992.10:c.62327T>G (TTN) ENSP00000343764.6:p.Phe20776Cys
ENST00000342992.11:c.62327T>G (TTN) ENSP00000343764.6:p.Phe20776Cys
ENST00000359218.10:c.43211T>G (TTN) ENSP00000352154.5:p.Phe14404Cys
ENST00000359218.9:c.43211T>G (TTN) ENSP00000352154.5:p.Phe14404Cys
ENST00000460472.6:c.42836T>G (TTN) ENSP00000434586.1:p.Phe14279Cys
ENST00000591111.5:c.65108T>G (TTN) ENSP00000465570.1:p.Phe21703Cys
ENST00000615779.4:c.65108T>G (TTN) ENSP00000483597.1:p.Phe21703Cys
XM_011511729.1:c.69128T>G (TTN) XP_011510031.1:p.Phe23043Cys
XM_011511730.1:c.43022T>G (TTN) XP_011510032.1:p.Phe14341Cys
XM_011511731.1:c.42881T>G (TTN) XP_011510033.1:p.Phe14294Cys
XM_017004819.1:c.68924T>G (TTN) XP_016860308.1:p.Phe22975Cys
XM_017004820.1:c.64322T>G (TTN) XP_016860309.1:p.Phe21441Cys
XM_017004821.1:c.64319T>G (TTN) XP_016860310.1:p.Phe21440Cys
XM_017004822.1:c.61361T>G (TTN) XP_016860311.1:p.Phe20454Cys
XM_017004823.1:c.42977T>G (TTN) XP_016860312.1:p.Phe14326Cys
XM_024453094.1:c.64472T>G (TTN) XP_024308862.1:p.Phe21491Cys
XM_024453095.1:c.64469T>G (TTN) XP_024308863.1:p.Phe21490Cys
XM_024453096.1:c.63902T>G (TTN) XP_024308864.1:p.Phe21301Cys
XM_024453097.1:c.61244T>G (TTN) XP_024308865.1:p.Phe20415Cys
XM_024453098.1:c.61163T>G (TTN) XP_024308866.1:p.Phe20388Cys
XM_024453099.1:c.42926T>G (TTN) XP_024308867.1:p.Phe14309Cys
XM_024453100.1:c.32780T>G (TTN) XP_024308868.1:p.Phe10927Cys
Search 100 bp 5'
Search 100 bp 3'