Canonical Allele Identifier: CA349470704

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546681G>C , CM000664.2:g.178546681G>C GRCh38
NC_000002.11:g.179411408G>C , CM000664.1:g.179411408G>C GRCh37
NC_000002.10:g.179119654G>C NCBI36
NG_011618.3:g.289122C>G , LRG_391:g.289122C>G
NG_051363.1:g.28855G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87043C>G (TTN) ENSP00000343764.6:p.Arg29015Gly
ENST00000342175.11:c.68128C>G (TTN) ENSP00000340554.6:p.Arg22710Gly
ENST00000359218.10:c.67927C>G (TTN) ENSP00000352154.5:p.Arg22643Gly
ENST00000342175.10:c.68128C>G (TTN) ENSP00000340554.6:p.Arg22710Gly
ENST00000342992.10:c.87043C>G (TTN) ENSP00000343764.6:p.Arg29015Gly
ENST00000359218.9:c.67927C>G (TTN) ENSP00000352154.5:p.Arg22643Gly
ENST00000460472.6:c.67552C>G (TTN) ENSP00000434586.1:p.Arg22518Gly
ENST00000589042.5:c.94747C>G (TTN) MANE Select ENSP00000467141.1:p.Arg31583Gly
ENST00000591111.5:c.89824C>G (TTN) ENSP00000465570.1:p.Arg29942Gly
ENST00000615779.4:c.89824C>G (TTN) ENSP00000483597.1:p.Arg29942Gly
NM_001256850.1:c.89824C>G (TTN) NP_001243779.1:p.Arg29942Gly
NM_001267550.2:c.94747C>G (TTN) MANE Select NP_001254479.2:p.Arg31583Gly
NM_003319.4:c.67552C>G (TTN) NP_003310.4:p.Arg22518Gly
NM_133378.4:c.87043C>G (TTN) NP_596869.4:p.Arg29015Gly
NM_133432.3:c.67927C>G (TTN) NP_597676.3:p.Arg22643Gly
NM_133437.4:c.68128C>G (TTN) NP_597681.4:p.Arg22710Gly
NR_038271.1:n.446+23045G>C (TTN-AS1)
NR_038272.1:n.2043+4320G>C (TTN-AS1)
XM_011511729.1:c.93844C>G (TTN) XP_011510031.1:p.Arg31282Gly
XM_011511730.1:c.67738C>G (TTN) XP_011510032.1:p.Arg22580Gly
XM_011511731.1:c.67597C>G (TTN) XP_011510033.1:p.Arg22533Gly
XM_017004819.1:c.93640C>G (TTN) XP_016860308.1:p.Arg31214Gly
XM_017004820.1:c.89038C>G (TTN) XP_016860309.1:p.Arg29680Gly
XM_017004821.1:c.89035C>G (TTN) XP_016860310.1:p.Arg29679Gly
XM_017004822.1:c.86077C>G (TTN) XP_016860311.1:p.Arg28693Gly
XM_017004823.1:c.67693C>G (TTN) XP_016860312.1:p.Arg22565Gly
XM_024453094.1:c.89188C>G (TTN) XP_024308862.1:p.Arg29730Gly
XM_024453095.1:c.89185C>G (TTN) XP_024308863.1:p.Arg29729Gly
XM_024453096.1:c.88618C>G (TTN) XP_024308864.1:p.Arg29540Gly
XM_024453097.1:c.85960C>G (TTN) XP_024308865.1:p.Arg28654Gly
XM_024453098.1:c.85879C>G (TTN) XP_024308866.1:p.Arg28627Gly
XM_024453099.1:c.67642C>G (TTN) XP_024308867.1:p.Arg22548Gly
XM_024453100.1:c.57496C>G (TTN) XP_024308868.1:p.Arg19166Gly