Canonical Allele Identifier: CA2577170420

Linked Data

ClinVar Variation Id: 2921973
ClinVar RCV Id: RCV003782995

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551617A>C , CM000664.2:g.178551617A>C GRCh38
NC_000002.11:g.179416344A>C , CM000664.1:g.179416344A>C GRCh37
NC_000002.10:g.179124590A>C NCBI36
NG_011618.3:g.284186T>G , LRG_391:g.284186T>G
NG_051363.1:g.33791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83566+13T>G (TTN) ENSP00000343764.6:n.83566+13T>G
ENST00000342175.11:c.64651+13T>G (TTN) ENSP00000340554.6:n.64651+13T>G
ENST00000359218.10:c.64450+13T>G (TTN) ENSP00000352154.5:n.64450+13T>G
ENST00000342175.10:c.64651+13T>G (TTN) ENSP00000340554.6:n.64651+13T>G
ENST00000342992.10:c.83566+13T>G (TTN) ENSP00000343764.6:n.83566+13T>G
ENST00000359218.9:c.64450+13T>G (TTN) ENSP00000352154.5:n.64450+13T>G
ENST00000460472.6:c.64075+13T>G (TTN) ENSP00000434586.1:n.64075+13T>G
ENST00000589042.5:c.91270+13T>G (TTN) MANE Select ENSP00000467141.1:n.91270+13T>G
ENST00000591111.5:c.86347+13T>G (TTN) ENSP00000465570.1:n.86347+13T>G
ENST00000615779.4:c.86347+13T>G (TTN) ENSP00000483597.1:n.86347+13T>G
NM_001256850.1:c.86347+13T>G (TTN) NP_001243779.1:n.86347+13T>G
NM_001267550.2:c.91270+13T>G (TTN) MANE Select NP_001254479.2:n.91270+13T>G
NM_003319.4:c.64075+13T>G (TTN) NP_003310.4:n.64075+13T>G
NM_133378.4:c.83566+13T>G (TTN) NP_596869.4:n.83566+13T>G
NM_133432.3:c.64450+13T>G (TTN) NP_597676.3:n.64450+13T>G
NM_133437.4:c.64651+13T>G (TTN) NP_597681.4:n.64651+13T>G
NR_038271.1:n.447-19683A>C (TTN-AS1)
NR_038272.1:n.2043+9256A>C (TTN-AS1)
XM_011511729.1:c.90367+13T>G (TTN) XP_011510031.1:n.90367+13T>G
XM_011511730.1:c.64261+13T>G (TTN) XP_011510032.1:n.64261+13T>G
XM_011511731.1:c.64120+13T>G (TTN) XP_011510033.1:n.64120+13T>G
XM_017004819.1:c.90163+13T>G (TTN) XP_016860308.1:n.90163+13T>G
XM_017004820.1:c.85561+13T>G (TTN) XP_016860309.1:n.85561+13T>G
XM_017004821.1:c.85558+13T>G (TTN) XP_016860310.1:n.85558+13T>G
XM_017004822.1:c.82600+13T>G (TTN) XP_016860311.1:n.82600+13T>G
XM_017004823.1:c.64216+13T>G (TTN) XP_016860312.1:n.64216+13T>G
XM_024453094.1:c.85711+13T>G (TTN) XP_024308862.1:n.85711+13T>G
XM_024453095.1:c.85708+13T>G (TTN) XP_024308863.1:n.85708+13T>G
XM_024453096.1:c.85141+13T>G (TTN) XP_024308864.1:n.85141+13T>G
XM_024453097.1:c.82483+13T>G (TTN) XP_024308865.1:n.82483+13T>G
XM_024453098.1:c.82402+13T>G (TTN) XP_024308866.1:n.82402+13T>G
XM_024453099.1:c.64165+13T>G (TTN) XP_024308867.1:n.64165+13T>G
XM_024453100.1:c.54019+13T>G (TTN) XP_024308868.1:n.54019+13T>G