Canonical Allele Identifier: CA16603286

Linked Data

ClinVar Variation Id: 377167
ClinVar RCV Id: RCV000441173
dbSNP Id: rs1057520148

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612477A>T , CM000664.2:g.178612477A>T GRCh38
NC_000002.11:g.179477204A>T , CM000664.1:g.179477204A>T GRCh37
NC_000002.10:g.179185449A>T NCBI36
NG_011618.3:g.223326T>A , LRG_391:g.223326T>A
NG_051363.1:g.94651A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.42344T>A (TTN) ENSP00000343764.6:p.Ile14115Asn
ENST00000342175.11:c.23429T>A (TTN) ENSP00000340554.6:p.Ile7810Asn
ENST00000359218.10:c.23228T>A (TTN) ENSP00000352154.5:p.Ile7743Asn
ENST00000342175.10:c.23429T>A (TTN) ENSP00000340554.6:p.Ile7810Asn
ENST00000342992.10:c.42344T>A (TTN) ENSP00000343764.6:p.Ile14115Asn
ENST00000359218.9:c.23228T>A (TTN) ENSP00000352154.5:p.Ile7743Asn
ENST00000460472.6:c.22853T>A (TTN) ENSP00000434586.1:p.Ile7618Asn
ENST00000589042.5:c.50048T>A (TTN) MANE Select ENSP00000467141.1:p.Ile16683Asn
ENST00000591111.5:c.45125T>A (TTN) ENSP00000465570.1:p.Ile15042Asn
ENST00000615779.4:c.45125T>A (TTN) ENSP00000483597.1:p.Ile15042Asn
NM_001256850.1:c.45125T>A (TTN) NP_001243779.1:p.Ile15042Asn
NM_001267550.2:c.50048T>A (TTN) MANE Select NP_001254479.2:p.Ile16683Asn
NM_003319.4:c.22853T>A (TTN) NP_003310.4:p.Ile7618Asn
NM_133378.4:c.42344T>A (TTN) NP_596869.4:p.Ile14115Asn
NM_133432.3:c.23228T>A (TTN) NP_597676.3:p.Ile7743Asn
NM_133437.4:c.23429T>A (TTN) NP_597681.4:p.Ile7810Asn
NR_038271.1:n.783-1558A>T (TTN-AS1)
XM_011511729.1:c.49145T>A (TTN) XP_011510031.1:p.Ile16382Asn
XM_011511730.1:c.23039T>A (TTN) XP_011510032.1:p.Ile7680Asn
XM_011511731.1:c.22898T>A (TTN) XP_011510033.1:p.Ile7633Asn
XM_017004819.1:c.48941T>A (TTN) XP_016860308.1:p.Ile16314Asn
XM_017004820.1:c.44339T>A (TTN) XP_016860309.1:p.Ile14780Asn
XM_017004821.1:c.44336T>A (TTN) XP_016860310.1:p.Ile14779Asn
XM_017004822.1:c.41378T>A (TTN) XP_016860311.1:p.Ile13793Asn
XM_017004823.1:c.22994T>A (TTN) XP_016860312.1:p.Ile7665Asn
XM_024453094.1:c.44489T>A (TTN) XP_024308862.1:p.Ile14830Asn
XM_024453095.1:c.44486T>A (TTN) XP_024308863.1:p.Ile14829Asn
XM_024453096.1:c.43919T>A (TTN) XP_024308864.1:p.Ile14640Asn
XM_024453097.1:c.41261T>A (TTN) XP_024308865.1:p.Ile13754Asn
XM_024453098.1:c.41180T>A (TTN) XP_024308866.1:p.Ile13727Asn
XM_024453099.1:c.22943T>A (TTN) XP_024308867.1:p.Ile7648Asn
XM_024453100.1:c.12797T>A (TTN) XP_024308868.1:p.Ile4266Asn