Canonical Allele Identifier: CA349534693

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557646A>C , CM000664.2:g.178557646A>C GRCh38
NC_000002.11:g.179422373A>C , CM000664.1:g.179422373A>C GRCh37
NC_000002.10:g.179130619A>C NCBI36
NG_011618.3:g.278157T>G , LRG_391:g.278157T>G
NG_051363.1:g.39820A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80002+2T>G (TTN) ENSP00000343764.6:n.80002+2T>G
ENST00000342175.11:c.61087+2T>G (TTN) ENSP00000340554.6:n.61087+2T>G
ENST00000359218.10:c.60886+2T>G (TTN) ENSP00000352154.5:n.60886+2T>G
ENST00000342175.10:c.61087+2T>G (TTN) ENSP00000340554.6:n.61087+2T>G
ENST00000342992.10:c.80002+2T>G (TTN) ENSP00000343764.6:n.80002+2T>G
ENST00000359218.9:c.60886+2T>G (TTN) ENSP00000352154.5:n.60886+2T>G
ENST00000460472.6:c.60511+2T>G (TTN) ENSP00000434586.1:n.60511+2T>G
ENST00000589042.5:c.87706+2T>G (TTN) MANE Select ENSP00000467141.1:n.87706+2T>G
ENST00000591111.5:c.82783+2T>G (TTN) ENSP00000465570.1:n.82783+2T>G
ENST00000615779.4:c.82783+2T>G (TTN) ENSP00000483597.1:n.82783+2T>G
NM_001256850.1:c.82783+2T>G (TTN) NP_001243779.1:n.82783+2T>G
NM_001267550.2:c.87706+2T>G (TTN) MANE Select NP_001254479.2:n.87706+2T>G
NM_003319.4:c.60511+2T>G (TTN) NP_003310.4:n.60511+2T>G
NM_133378.4:c.80002+2T>G (TTN) NP_596869.4:n.80002+2T>G
NM_133432.3:c.60886+2T>G (TTN) NP_597676.3:n.60886+2T>G
NM_133437.4:c.61087+2T>G (TTN) NP_597681.4:n.61087+2T>G
NR_038271.1:n.447-13654A>C (TTN-AS1)
NR_038272.1:n.2043+15285A>C (TTN-AS1)
XM_011511729.1:c.86803+2T>G (TTN) XP_011510031.1:n.86803+2T>G
XM_011511730.1:c.60697+2T>G (TTN) XP_011510032.1:n.60697+2T>G
XM_011511731.1:c.60556+2T>G (TTN) XP_011510033.1:n.60556+2T>G
XM_017004819.1:c.86599+2T>G (TTN) XP_016860308.1:n.86599+2T>G
XM_017004820.1:c.81997+2T>G (TTN) XP_016860309.1:n.81997+2T>G
XM_017004821.1:c.81994+2T>G (TTN) XP_016860310.1:n.81994+2T>G
XM_017004822.1:c.79036+2T>G (TTN) XP_016860311.1:n.79036+2T>G
XM_017004823.1:c.60652+2T>G (TTN) XP_016860312.1:n.60652+2T>G
XM_024453094.1:c.82147+2T>G (TTN) XP_024308862.1:n.82147+2T>G
XM_024453095.1:c.82144+2T>G (TTN) XP_024308863.1:n.82144+2T>G
XM_024453096.1:c.81577+2T>G (TTN) XP_024308864.1:n.81577+2T>G
XM_024453097.1:c.78919+2T>G (TTN) XP_024308865.1:n.78919+2T>G
XM_024453098.1:c.78838+2T>G (TTN) XP_024308866.1:n.78838+2T>G
XM_024453099.1:c.60601+2T>G (TTN) XP_024308867.1:n.60601+2T>G
XM_024453100.1:c.50455+2T>G (TTN) XP_024308868.1:n.50455+2T>G