Canonical Allele Identifier: CA349466233

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546210A>C , CM000664.2:g.178546210A>C GRCh38
NC_000002.11:g.179410937A>C , CM000664.1:g.179410937A>C GRCh37
NC_000002.10:g.179119183A>C NCBI36
NG_011618.3:g.289593T>G , LRG_391:g.289593T>G
NG_051363.1:g.28384A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87415+2T>G (TTN) ENSP00000343764.6:n.87415+2T>G
ENST00000342175.11:c.68500+2T>G (TTN) ENSP00000340554.6:n.68500+2T>G
ENST00000359218.10:c.68299+2T>G (TTN) ENSP00000352154.5:n.68299+2T>G
ENST00000342175.10:c.68500+2T>G (TTN) ENSP00000340554.6:n.68500+2T>G
ENST00000342992.10:c.87415+2T>G (TTN) ENSP00000343764.6:n.87415+2T>G
ENST00000359218.9:c.68299+2T>G (TTN) ENSP00000352154.5:n.68299+2T>G
ENST00000460472.6:c.67924+2T>G (TTN) ENSP00000434586.1:n.67924+2T>G
ENST00000589042.5:c.95119+2T>G (TTN) MANE Select ENSP00000467141.1:n.95119+2T>G
ENST00000591111.5:c.90196+2T>G (TTN) ENSP00000465570.1:n.90196+2T>G
ENST00000615779.4:c.90196+2T>G (TTN) ENSP00000483597.1:n.90196+2T>G
NM_001256850.1:c.90196+2T>G (TTN) NP_001243779.1:n.90196+2T>G
NM_001267550.2:c.95119+2T>G (TTN) MANE Select NP_001254479.2:n.95119+2T>G
NM_003319.4:c.67924+2T>G (TTN) NP_003310.4:n.67924+2T>G
NM_133378.4:c.87415+2T>G (TTN) NP_596869.4:n.87415+2T>G
NM_133432.3:c.68299+2T>G (TTN) NP_597676.3:n.68299+2T>G
NM_133437.4:c.68500+2T>G (TTN) NP_597681.4:n.68500+2T>G
NR_038271.1:n.446+22574A>C (TTN-AS1)
NR_038272.1:n.2043+3849A>C (TTN-AS1)
XM_011511729.1:c.94216+2T>G (TTN) XP_011510031.1:n.94216+2T>G
XM_011511730.1:c.68110+2T>G (TTN) XP_011510032.1:n.68110+2T>G
XM_011511731.1:c.67969+2T>G (TTN) XP_011510033.1:n.67969+2T>G
XM_017004819.1:c.94012+2T>G (TTN) XP_016860308.1:n.94012+2T>G
XM_017004820.1:c.89410+2T>G (TTN) XP_016860309.1:n.89410+2T>G
XM_017004821.1:c.89407+2T>G (TTN) XP_016860310.1:n.89407+2T>G
XM_017004822.1:c.86449+2T>G (TTN) XP_016860311.1:n.86449+2T>G
XM_017004823.1:c.68065+2T>G (TTN) XP_016860312.1:n.68065+2T>G
XM_024453094.1:c.89560+2T>G (TTN) XP_024308862.1:n.89560+2T>G
XM_024453095.1:c.89557+2T>G (TTN) XP_024308863.1:n.89557+2T>G
XM_024453096.1:c.88990+2T>G (TTN) XP_024308864.1:n.88990+2T>G
XM_024453097.1:c.86332+2T>G (TTN) XP_024308865.1:n.86332+2T>G
XM_024453098.1:c.86251+2T>G (TTN) XP_024308866.1:n.86251+2T>G
XM_024453099.1:c.68014+2T>G (TTN) XP_024308867.1:n.68014+2T>G
XM_024453100.1:c.57868+2T>G (TTN) XP_024308868.1:n.57868+2T>G