Canonical Allele Identifier: CA349528489

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599153G>C , CM000664.2:g.178599153G>C GRCh38
NC_000002.11:g.179463880G>C , CM000664.1:g.179463880G>C GRCh37
NC_000002.10:g.179172125G>C NCBI36
NG_011618.3:g.236650C>G , LRG_391:g.236650C>G
NG_051363.1:g.81327G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.48936C>G (TTN) ENSP00000343764.6:p.Asn16312Lys
ENST00000342175.11:c.30021C>G (TTN) ENSP00000340554.6:p.Asn10007Lys
ENST00000359218.10:c.29820C>G (TTN) ENSP00000352154.5:p.Asn9940Lys
ENST00000342175.10:c.30021C>G (TTN) ENSP00000340554.6:p.Asn10007Lys
ENST00000342992.10:c.48936C>G (TTN) ENSP00000343764.6:p.Asn16312Lys
ENST00000359218.9:c.29820C>G (TTN) ENSP00000352154.5:p.Asn9940Lys
ENST00000460472.6:c.29445C>G (TTN) ENSP00000434586.1:p.Asn9815Lys
ENST00000589042.5:c.56640C>G (TTN) MANE Select ENSP00000467141.1:p.Asn18880Lys
ENST00000591111.5:c.51717C>G (TTN) ENSP00000465570.1:p.Asn17239Lys
ENST00000615779.4:c.51717C>G (TTN) ENSP00000483597.1:p.Asn17239Lys
NM_001256850.1:c.51717C>G (TTN) NP_001243779.1:p.Asn17239Lys
NM_001267550.2:c.56640C>G (TTN) MANE Select NP_001254479.2:p.Asn18880Lys
NM_003319.4:c.29445C>G (TTN) NP_003310.4:p.Asn9815Lys
NM_133378.4:c.48936C>G (TTN) NP_596869.4:p.Asn16312Lys
NM_133432.3:c.29820C>G (TTN) NP_597676.3:p.Asn9940Lys
NM_133437.4:c.30021C>G (TTN) NP_597681.4:p.Asn10007Lys
NR_038271.1:n.682+1472G>C (TTN-AS1)
NR_038272.1:n.3569-441G>C (TTN-AS1)
XM_011511729.1:c.55737C>G (TTN) XP_011510031.1:p.Asn18579Lys
XM_011511730.1:c.29631C>G (TTN) XP_011510032.1:p.Asn9877Lys
XM_011511731.1:c.29490C>G (TTN) XP_011510033.1:p.Asn9830Lys
XM_017004819.1:c.55533C>G (TTN) XP_016860308.1:p.Asn18511Lys
XM_017004820.1:c.50931C>G (TTN) XP_016860309.1:p.Asn16977Lys
XM_017004821.1:c.50928C>G (TTN) XP_016860310.1:p.Asn16976Lys
XM_017004822.1:c.47970C>G (TTN) XP_016860311.1:p.Asn15990Lys
XM_017004823.1:c.29586C>G (TTN) XP_016860312.1:p.Asn9862Lys
XM_024453094.1:c.51081C>G (TTN) XP_024308862.1:p.Asn17027Lys
XM_024453095.1:c.51078C>G (TTN) XP_024308863.1:p.Asn17026Lys
XM_024453096.1:c.50511C>G (TTN) XP_024308864.1:p.Asn16837Lys
XM_024453097.1:c.47853C>G (TTN) XP_024308865.1:p.Asn15951Lys
XM_024453098.1:c.47772C>G (TTN) XP_024308866.1:p.Asn15924Lys
XM_024453099.1:c.29535C>G (TTN) XP_024308867.1:p.Asn9845Lys
XM_024453100.1:c.19389C>G (TTN) XP_024308868.1:p.Asn6463Lys