Canonical Allele Identifier: CA349510764

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552464C>G , CM000664.2:g.178552464C>G GRCh38
NC_000002.11:g.179417191C>G , CM000664.1:g.179417191C>G GRCh37
NC_000002.10:g.179125437C>G NCBI36
NG_011618.3:g.283339G>C , LRG_391:g.283339G>C
NG_051363.1:g.34638C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82732G>C (TTN) ENSP00000343764.6:p.Gly27578Arg
ENST00000342175.11:c.63817G>C (TTN) ENSP00000340554.6:p.Gly21273Arg
ENST00000359218.10:c.63616G>C (TTN) ENSP00000352154.5:p.Gly21206Arg
ENST00000342175.10:c.63817G>C (TTN) ENSP00000340554.6:p.Gly21273Arg
ENST00000342992.10:c.82732G>C (TTN) ENSP00000343764.6:p.Gly27578Arg
ENST00000359218.9:c.63616G>C (TTN) ENSP00000352154.5:p.Gly21206Arg
ENST00000460472.6:c.63241G>C (TTN) ENSP00000434586.1:p.Gly21081Arg
ENST00000589042.5:c.90436G>C (TTN) MANE Select ENSP00000467141.1:p.Gly30146Arg
ENST00000591111.5:c.85513G>C (TTN) ENSP00000465570.1:p.Gly28505Arg
ENST00000615779.4:c.85513G>C (TTN) ENSP00000483597.1:p.Gly28505Arg
NM_001256850.1:c.85513G>C (TTN) NP_001243779.1:p.Gly28505Arg
NM_001267550.2:c.90436G>C (TTN) MANE Select NP_001254479.2:p.Gly30146Arg
NM_003319.4:c.63241G>C (TTN) NP_003310.4:p.Gly21081Arg
NM_133378.4:c.82732G>C (TTN) NP_596869.4:p.Gly27578Arg
NM_133432.3:c.63616G>C (TTN) NP_597676.3:p.Gly21206Arg
NM_133437.4:c.63817G>C (TTN) NP_597681.4:p.Gly21273Arg
NR_038271.1:n.447-18836C>G (TTN-AS1)
NR_038272.1:n.2043+10103C>G (TTN-AS1)
XM_011511729.1:c.89533G>C (TTN) XP_011510031.1:p.Gly29845Arg
XM_011511730.1:c.63427G>C (TTN) XP_011510032.1:p.Gly21143Arg
XM_011511731.1:c.63286G>C (TTN) XP_011510033.1:p.Gly21096Arg
XM_017004819.1:c.89329G>C (TTN) XP_016860308.1:p.Gly29777Arg
XM_017004820.1:c.84727G>C (TTN) XP_016860309.1:p.Gly28243Arg
XM_017004821.1:c.84724G>C (TTN) XP_016860310.1:p.Gly28242Arg
XM_017004822.1:c.81766G>C (TTN) XP_016860311.1:p.Gly27256Arg
XM_017004823.1:c.63382G>C (TTN) XP_016860312.1:p.Gly21128Arg
XM_024453094.1:c.84877G>C (TTN) XP_024308862.1:p.Gly28293Arg
XM_024453095.1:c.84874G>C (TTN) XP_024308863.1:p.Gly28292Arg
XM_024453096.1:c.84307G>C (TTN) XP_024308864.1:p.Gly28103Arg
XM_024453097.1:c.81649G>C (TTN) XP_024308865.1:p.Gly27217Arg
XM_024453098.1:c.81568G>C (TTN) XP_024308866.1:p.Gly27190Arg
XM_024453099.1:c.63331G>C (TTN) XP_024308867.1:p.Gly21111Arg
XM_024453100.1:c.53185G>C (TTN) XP_024308868.1:p.Gly17729Arg