Canonical Allele Identifier: CA349427699

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537527G>C , CM000664.2:g.178537527G>C GRCh38
NC_000002.11:g.179402254G>C , CM000664.1:g.179402254G>C GRCh37
NC_000002.10:g.179110500G>C NCBI36
NG_011618.3:g.298276C>G , LRG_391:g.298276C>G
NG_051363.1:g.19701G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91976C>G (TTN) ENSP00000343764.6:p.Ala30659Gly
ENST00000342175.11:c.73061C>G (TTN) ENSP00000340554.6:p.Ala24354Gly
ENST00000359218.10:c.72860C>G (TTN) ENSP00000352154.5:p.Ala24287Gly
ENST00000342175.10:c.73061C>G (TTN) ENSP00000340554.6:p.Ala24354Gly
ENST00000342992.10:c.91976C>G (TTN) ENSP00000343764.6:p.Ala30659Gly
ENST00000359218.9:c.72860C>G (TTN) ENSP00000352154.5:p.Ala24287Gly
ENST00000460472.6:c.72485C>G (TTN) ENSP00000434586.1:p.Ala24162Gly
ENST00000589042.5:c.99680C>G (TTN) MANE Select ENSP00000467141.1:p.Ala33227Gly
ENST00000591111.5:c.94757C>G (TTN) ENSP00000465570.1:p.Ala31586Gly
ENST00000615779.4:c.94757C>G (TTN) ENSP00000483597.1:p.Ala31586Gly
NM_001256850.1:c.94757C>G (TTN) NP_001243779.1:p.Ala31586Gly
NM_001267550.2:c.99680C>G (TTN) MANE Select NP_001254479.2:p.Ala33227Gly
NM_003319.4:c.72485C>G (TTN) NP_003310.4:p.Ala24162Gly
NM_133378.4:c.91976C>G (TTN) NP_596869.4:p.Ala30659Gly
NM_133432.3:c.72860C>G (TTN) NP_597676.3:p.Ala24287Gly
NM_133437.4:c.73061C>G (TTN) NP_597681.4:p.Ala24354Gly
NR_038271.1:n.446+13891G>C (TTN-AS1)
NR_038272.1:n.483G>C (TTN-AS1)
XM_011511729.1:c.98777C>G (TTN) XP_011510031.1:p.Ala32926Gly
XM_011511730.1:c.72671C>G (TTN) XP_011510032.1:p.Ala24224Gly
XM_011511731.1:c.72530C>G (TTN) XP_011510033.1:p.Ala24177Gly
XM_017004819.1:c.98573C>G (TTN) XP_016860308.1:p.Ala32858Gly
XM_017004820.1:c.93971C>G (TTN) XP_016860309.1:p.Ala31324Gly
XM_017004821.1:c.93968C>G (TTN) XP_016860310.1:p.Ala31323Gly
XM_017004822.1:c.91010C>G (TTN) XP_016860311.1:p.Ala30337Gly
XM_017004823.1:c.72626C>G (TTN) XP_016860312.1:p.Ala24209Gly
XM_024453094.1:c.94121C>G (TTN) XP_024308862.1:p.Ala31374Gly
XM_024453095.1:c.94118C>G (TTN) XP_024308863.1:p.Ala31373Gly
XM_024453096.1:c.93551C>G (TTN) XP_024308864.1:p.Ala31184Gly
XM_024453097.1:c.90893C>G (TTN) XP_024308865.1:p.Ala30298Gly
XM_024453098.1:c.90812C>G (TTN) XP_024308866.1:p.Ala30271Gly
XM_024453099.1:c.72575C>G (TTN) XP_024308867.1:p.Ala24192Gly
XM_024453100.1:c.62429C>G (TTN) XP_024308868.1:p.Ala20810Gly