Canonical Allele Identifier: CA2580064954

Linked Data

ClinVar Variation Id: 1941099
ClinVar RCV Id: RCV002675543

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577912G>C , CM000664.2:g.178577912G>C GRCh38
NC_000002.11:g.179442639G>C , CM000664.1:g.179442639G>C GRCh37
NC_000002.10:g.179150885G>C NCBI36
NG_011618.3:g.257891C>G , LRG_391:g.257891C>G
NG_051363.1:g.60086G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60824-14C>G (TTN) ENSP00000343764.6:n.60824-14C>G
ENST00000342175.11:c.41909-14C>G (TTN) ENSP00000340554.6:n.41909-14C>G
ENST00000359218.10:c.41708-14C>G (TTN) ENSP00000352154.5:n.41708-14C>G
ENST00000342175.10:c.41909-14C>G (TTN) ENSP00000340554.6:n.41909-14C>G
ENST00000342992.10:c.60824-14C>G (TTN) ENSP00000343764.6:n.60824-14C>G
ENST00000359218.9:c.41708-14C>G (TTN) ENSP00000352154.5:n.41708-14C>G
ENST00000460472.6:c.41333-14C>G (TTN) ENSP00000434586.1:n.41333-14C>G
ENST00000589042.5:c.68528-14C>G (TTN) MANE Select ENSP00000467141.1:n.68528-14C>G
ENST00000591111.5:c.63605-14C>G (TTN) ENSP00000465570.1:n.63605-14C>G
ENST00000615779.4:c.63605-14C>G (TTN) ENSP00000483597.1:n.63605-14C>G
NM_001256850.1:c.63605-14C>G (TTN) NP_001243779.1:n.63605-14C>G
NM_001267550.2:c.68528-14C>G (TTN) MANE Select NP_001254479.2:n.68528-14C>G
NM_003319.4:c.41333-14C>G (TTN) NP_003310.4:n.41333-14C>G
NM_133378.4:c.60824-14C>G (TTN) NP_596869.4:n.60824-14C>G
NM_133432.3:c.41708-14C>G (TTN) NP_597676.3:n.41708-14C>G
NM_133437.4:c.41909-14C>G (TTN) NP_597681.4:n.41909-14C>G
NR_038271.1:n.596+6463G>C (TTN-AS1)
NR_038272.1:n.2044-4660G>C (TTN-AS1)
XM_011511729.1:c.67625-14C>G (TTN) XP_011510031.1:n.67625-14C>G
XM_011511730.1:c.41519-14C>G (TTN) XP_011510032.1:n.41519-14C>G
XM_011511731.1:c.41378-14C>G (TTN) XP_011510033.1:n.41378-14C>G
XM_017004819.1:c.67421-14C>G (TTN) XP_016860308.1:n.67421-14C>G
XM_017004820.1:c.62819-14C>G (TTN) XP_016860309.1:n.62819-14C>G
XM_017004821.1:c.62816-14C>G (TTN) XP_016860310.1:n.62816-14C>G
XM_017004822.1:c.59858-14C>G (TTN) XP_016860311.1:n.59858-14C>G
XM_017004823.1:c.41474-14C>G (TTN) XP_016860312.1:n.41474-14C>G
XM_024453094.1:c.62969-14C>G (TTN) XP_024308862.1:n.62969-14C>G
XM_024453095.1:c.62966-14C>G (TTN) XP_024308863.1:n.62966-14C>G
XM_024453096.1:c.62399-14C>G (TTN) XP_024308864.1:n.62399-14C>G
XM_024453097.1:c.59741-14C>G (TTN) XP_024308865.1:n.59741-14C>G
XM_024453098.1:c.59660-14C>G (TTN) XP_024308866.1:n.59660-14C>G
XM_024453099.1:c.41423-14C>G (TTN) XP_024308867.1:n.41423-14C>G
XM_024453100.1:c.31277-14C>G (TTN) XP_024308868.1:n.31277-14C>G