Canonical Allele Identifier: CA349426905

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537075G>C , CM000664.2:g.178537075G>C GRCh38
NC_000002.11:g.179401802G>C , CM000664.1:g.179401802G>C GRCh37
NC_000002.10:g.179110048G>C NCBI36
NG_011618.3:g.298728C>G , LRG_391:g.298728C>G
NG_051363.1:g.19249G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92330C>G (TTN) ENSP00000343764.6:p.Ala30777Gly
ENST00000342175.11:c.73415C>G (TTN) ENSP00000340554.6:p.Ala24472Gly
ENST00000359218.10:c.73214C>G (TTN) ENSP00000352154.5:p.Ala24405Gly
ENST00000342175.10:c.73415C>G (TTN) ENSP00000340554.6:p.Ala24472Gly
ENST00000342992.10:c.92330C>G (TTN) ENSP00000343764.6:p.Ala30777Gly
ENST00000359218.9:c.73214C>G (TTN) ENSP00000352154.5:p.Ala24405Gly
ENST00000460472.6:c.72839C>G (TTN) ENSP00000434586.1:p.Ala24280Gly
ENST00000589042.5:c.100034C>G (TTN) MANE Select ENSP00000467141.1:p.Ala33345Gly
ENST00000591111.5:c.95111C>G (TTN) ENSP00000465570.1:p.Ala31704Gly
ENST00000615779.4:c.95111C>G (TTN) ENSP00000483597.1:p.Ala31704Gly
NM_001256850.1:c.95111C>G (TTN) NP_001243779.1:p.Ala31704Gly
NM_001267550.2:c.100034C>G (TTN) MANE Select NP_001254479.2:p.Ala33345Gly
NM_003319.4:c.72839C>G (TTN) NP_003310.4:p.Ala24280Gly
NM_133378.4:c.92330C>G (TTN) NP_596869.4:p.Ala30777Gly
NM_133432.3:c.73214C>G (TTN) NP_597676.3:p.Ala24405Gly
NM_133437.4:c.73415C>G (TTN) NP_597681.4:p.Ala24472Gly
NR_038271.1:n.446+13439G>C (TTN-AS1)
NR_038272.1:n.317-286G>C (TTN-AS1)
XM_011511729.1:c.99131C>G (TTN) XP_011510031.1:p.Ala33044Gly
XM_011511730.1:c.73025C>G (TTN) XP_011510032.1:p.Ala24342Gly
XM_011511731.1:c.72884C>G (TTN) XP_011510033.1:p.Ala24295Gly
XM_017004819.1:c.98927C>G (TTN) XP_016860308.1:p.Ala32976Gly
XM_017004820.1:c.94325C>G (TTN) XP_016860309.1:p.Ala31442Gly
XM_017004821.1:c.94322C>G (TTN) XP_016860310.1:p.Ala31441Gly
XM_017004822.1:c.91364C>G (TTN) XP_016860311.1:p.Ala30455Gly
XM_017004823.1:c.72980C>G (TTN) XP_016860312.1:p.Ala24327Gly
XM_024453094.1:c.94475C>G (TTN) XP_024308862.1:p.Ala31492Gly
XM_024453095.1:c.94472C>G (TTN) XP_024308863.1:p.Ala31491Gly
XM_024453096.1:c.93905C>G (TTN) XP_024308864.1:p.Ala31302Gly
XM_024453097.1:c.91247C>G (TTN) XP_024308865.1:p.Ala30416Gly
XM_024453098.1:c.91166C>G (TTN) XP_024308866.1:p.Ala30389Gly
XM_024453099.1:c.72929C>G (TTN) XP_024308867.1:p.Ala24310Gly
XM_024453100.1:c.62783C>G (TTN) XP_024308868.1:p.Ala20928Gly