Canonical Allele Identifier: CA2662130843

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593097G>A , CM000664.2:g.178593097G>A GRCh38
NC_000002.11:g.179457824G>A , CM000664.1:g.179457824G>A GRCh37
NC_000002.10:g.179166070G>A NCBI36
NG_011618.3:g.242706C>T , LRG_391:g.242706C>T
NG_051363.1:g.75271G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51332-14C>T (TTN) ENSP00000343764.6:n.51332-14C>T
ENST00000342175.11:c.32417-14C>T (TTN) ENSP00000340554.6:n.32417-14C>T
ENST00000359218.10:c.32216-14C>T (TTN) ENSP00000352154.5:n.32216-14C>T
ENST00000342175.10:c.32417-14C>T (TTN) ENSP00000340554.6:n.32417-14C>T
ENST00000342992.10:c.51332-14C>T (TTN) ENSP00000343764.6:n.51332-14C>T
ENST00000359218.9:c.32216-14C>T (TTN) ENSP00000352154.5:n.32216-14C>T
ENST00000460472.6:c.31841-14C>T (TTN) ENSP00000434586.1:n.31841-14C>T
ENST00000589042.5:c.59036-14C>T (TTN) MANE Select ENSP00000467141.1:n.59036-14C>T
ENST00000591111.5:c.54113-14C>T (TTN) ENSP00000465570.1:n.54113-14C>T
ENST00000615779.4:c.54113-14C>T (TTN) ENSP00000483597.1:n.54113-14C>T
NM_001256850.1:c.54113-14C>T (TTN) NP_001243779.1:n.54113-14C>T
NM_001267550.2:c.59036-14C>T (TTN) MANE Select NP_001254479.2:n.59036-14C>T
NM_003319.4:c.31841-14C>T (TTN) NP_003310.4:n.31841-14C>T
NM_133378.4:c.51332-14C>T (TTN) NP_596869.4:n.51332-14C>T
NM_133432.3:c.32216-14C>T (TTN) NP_597676.3:n.32216-14C>T
NM_133437.4:c.32417-14C>T (TTN) NP_597681.4:n.32417-14C>T
NR_038271.1:n.597-4499G>A (TTN-AS1)
NR_038272.1:n.3364+1783G>A (TTN-AS1)
XM_011511729.1:c.58133-14C>T (TTN) XP_011510031.1:n.58133-14C>T
XM_011511730.1:c.32027-14C>T (TTN) XP_011510032.1:n.32027-14C>T
XM_011511731.1:c.31886-14C>T (TTN) XP_011510033.1:n.31886-14C>T
XM_017004819.1:c.57929-14C>T (TTN) XP_016860308.1:n.57929-14C>T
XM_017004820.1:c.53327-14C>T (TTN) XP_016860309.1:n.53327-14C>T
XM_017004821.1:c.53324-14C>T (TTN) XP_016860310.1:n.53324-14C>T
XM_017004822.1:c.50366-14C>T (TTN) XP_016860311.1:n.50366-14C>T
XM_017004823.1:c.31982-14C>T (TTN) XP_016860312.1:n.31982-14C>T
XM_024453094.1:c.53477-14C>T (TTN) XP_024308862.1:n.53477-14C>T
XM_024453095.1:c.53474-14C>T (TTN) XP_024308863.1:n.53474-14C>T
XM_024453096.1:c.52907-14C>T (TTN) XP_024308864.1:n.52907-14C>T
XM_024453097.1:c.50249-14C>T (TTN) XP_024308865.1:n.50249-14C>T
XM_024453098.1:c.50168-14C>T (TTN) XP_024308866.1:n.50168-14C>T
XM_024453099.1:c.31931-14C>T (TTN) XP_024308867.1:n.31931-14C>T
XM_024453100.1:c.21785-14C>T (TTN) XP_024308868.1:n.21785-14C>T