Canonical Allele Identifier: CA349611871

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568920G>C , CM000664.2:g.178568920G>C GRCh38
NC_000002.11:g.179433647G>C , CM000664.1:g.179433647G>C GRCh37
NC_000002.10:g.179141893G>C NCBI36
NG_011618.3:g.266883C>G , LRG_391:g.266883C>G
NG_051363.1:g.51094G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69508C>G (TTN) ENSP00000343764.6:p.Gln23170Glu
ENST00000342175.11:c.50593C>G (TTN) ENSP00000340554.6:p.Gln16865Glu
ENST00000359218.10:c.50392C>G (TTN) ENSP00000352154.5:p.Gln16798Glu
ENST00000342175.10:c.50593C>G (TTN) ENSP00000340554.6:p.Gln16865Glu
ENST00000342992.10:c.69508C>G (TTN) ENSP00000343764.6:p.Gln23170Glu
ENST00000359218.9:c.50392C>G (TTN) ENSP00000352154.5:p.Gln16798Glu
ENST00000460472.6:c.50017C>G (TTN) ENSP00000434586.1:p.Gln16673Glu
ENST00000589042.5:c.77212C>G (TTN) MANE Select ENSP00000467141.1:p.Gln25738Glu
ENST00000591111.5:c.72289C>G (TTN) ENSP00000465570.1:p.Gln24097Glu
ENST00000615779.4:c.72289C>G (TTN) ENSP00000483597.1:p.Gln24097Glu
NM_001256850.1:c.72289C>G (TTN) NP_001243779.1:p.Gln24097Glu
NM_001267550.2:c.77212C>G (TTN) MANE Select NP_001254479.2:p.Gln25738Glu
NM_003319.4:c.50017C>G (TTN) NP_003310.4:p.Gln16673Glu
NM_133378.4:c.69508C>G (TTN) NP_596869.4:p.Gln23170Glu
NM_133432.3:c.50392C>G (TTN) NP_597676.3:p.Gln16798Glu
NM_133437.4:c.50593C>G (TTN) NP_597681.4:p.Gln16865Glu
NR_038271.1:n.447-2380G>C (TTN-AS1)
NR_038272.1:n.2044-13652G>C (TTN-AS1)
XM_011511729.1:c.76309C>G (TTN) XP_011510031.1:p.Gln25437Glu
XM_011511730.1:c.50203C>G (TTN) XP_011510032.1:p.Gln16735Glu
XM_011511731.1:c.50062C>G (TTN) XP_011510033.1:p.Gln16688Glu
XM_017004819.1:c.76105C>G (TTN) XP_016860308.1:p.Gln25369Glu
XM_017004820.1:c.71503C>G (TTN) XP_016860309.1:p.Gln23835Glu
XM_017004821.1:c.71500C>G (TTN) XP_016860310.1:p.Gln23834Glu
XM_017004822.1:c.68542C>G (TTN) XP_016860311.1:p.Gln22848Glu
XM_017004823.1:c.50158C>G (TTN) XP_016860312.1:p.Gln16720Glu
XM_024453094.1:c.71653C>G (TTN) XP_024308862.1:p.Gln23885Glu
XM_024453095.1:c.71650C>G (TTN) XP_024308863.1:p.Gln23884Glu
XM_024453096.1:c.71083C>G (TTN) XP_024308864.1:p.Gln23695Glu
XM_024453097.1:c.68425C>G (TTN) XP_024308865.1:p.Gln22809Glu
XM_024453098.1:c.68344C>G (TTN) XP_024308866.1:p.Gln22782Glu
XM_024453099.1:c.50107C>G (TTN) XP_024308867.1:p.Gln16703Glu
XM_024453100.1:c.39961C>G (TTN) XP_024308868.1:p.Gln13321Glu