Canonical Allele Identifier: CA349544814

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559829G>C , CM000664.2:g.178559829G>C GRCh38
NC_000002.11:g.179424556G>C , CM000664.1:g.179424556G>C GRCh37
NC_000002.10:g.179132802G>C NCBI36
NG_011618.3:g.275974C>G , LRG_391:g.275974C>G
NG_051363.1:g.42003G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78599C>G (TTN) ENSP00000343764.6:p.Ala26200Gly
ENST00000342175.11:c.59684C>G (TTN) ENSP00000340554.6:p.Ala19895Gly
ENST00000359218.10:c.59483C>G (TTN) ENSP00000352154.5:p.Ala19828Gly
ENST00000342175.10:c.59684C>G (TTN) ENSP00000340554.6:p.Ala19895Gly
ENST00000342992.10:c.78599C>G (TTN) ENSP00000343764.6:p.Ala26200Gly
ENST00000359218.9:c.59483C>G (TTN) ENSP00000352154.5:p.Ala19828Gly
ENST00000460472.6:c.59108C>G (TTN) ENSP00000434586.1:p.Ala19703Gly
ENST00000589042.5:c.86303C>G (TTN) MANE Select ENSP00000467141.1:p.Ala28768Gly
ENST00000591111.5:c.81380C>G (TTN) ENSP00000465570.1:p.Ala27127Gly
ENST00000615779.4:c.81380C>G (TTN) ENSP00000483597.1:p.Ala27127Gly
NM_001256850.1:c.81380C>G (TTN) NP_001243779.1:p.Ala27127Gly
NM_001267550.2:c.86303C>G (TTN) MANE Select NP_001254479.2:p.Ala28768Gly
NM_003319.4:c.59108C>G (TTN) NP_003310.4:p.Ala19703Gly
NM_133378.4:c.78599C>G (TTN) NP_596869.4:p.Ala26200Gly
NM_133432.3:c.59483C>G (TTN) NP_597676.3:p.Ala19828Gly
NM_133437.4:c.59684C>G (TTN) NP_597681.4:p.Ala19895Gly
NR_038271.1:n.447-11471G>C (TTN-AS1)
NR_038272.1:n.2043+17468G>C (TTN-AS1)
XM_011511729.1:c.85400C>G (TTN) XP_011510031.1:p.Ala28467Gly
XM_011511730.1:c.59294C>G (TTN) XP_011510032.1:p.Ala19765Gly
XM_011511731.1:c.59153C>G (TTN) XP_011510033.1:p.Ala19718Gly
XM_017004819.1:c.85196C>G (TTN) XP_016860308.1:p.Ala28399Gly
XM_017004820.1:c.80594C>G (TTN) XP_016860309.1:p.Ala26865Gly
XM_017004821.1:c.80591C>G (TTN) XP_016860310.1:p.Ala26864Gly
XM_017004822.1:c.77633C>G (TTN) XP_016860311.1:p.Ala25878Gly
XM_017004823.1:c.59249C>G (TTN) XP_016860312.1:p.Ala19750Gly
XM_024453094.1:c.80744C>G (TTN) XP_024308862.1:p.Ala26915Gly
XM_024453095.1:c.80741C>G (TTN) XP_024308863.1:p.Ala26914Gly
XM_024453096.1:c.80174C>G (TTN) XP_024308864.1:p.Ala26725Gly
XM_024453097.1:c.77516C>G (TTN) XP_024308865.1:p.Ala25839Gly
XM_024453098.1:c.77435C>G (TTN) XP_024308866.1:p.Ala25812Gly
XM_024453099.1:c.59198C>G (TTN) XP_024308867.1:p.Ala19733Gly
XM_024453100.1:c.49052C>G (TTN) XP_024308868.1:p.Ala16351Gly