Canonical Allele Identifier: CA349445894

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543279T>C , CM000664.2:g.178543279T>C GRCh38
NC_000002.11:g.179408006T>C , CM000664.1:g.179408006T>C GRCh37
NC_000002.10:g.179116252T>C NCBI36
NG_011618.3:g.292524A>G , LRG_391:g.292524A>G
NG_051363.1:g.25453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88990A>G (TTN) ENSP00000343764.6:p.Ser29664Gly
ENST00000342175.11:c.70075A>G (TTN) ENSP00000340554.6:p.Ser23359Gly
ENST00000359218.10:c.69874A>G (TTN) ENSP00000352154.5:p.Ser23292Gly
ENST00000342175.10:c.70075A>G (TTN) ENSP00000340554.6:p.Ser23359Gly
ENST00000342992.10:c.88990A>G (TTN) ENSP00000343764.6:p.Ser29664Gly
ENST00000359218.9:c.69874A>G (TTN) ENSP00000352154.5:p.Ser23292Gly
ENST00000460472.6:c.69499A>G (TTN) ENSP00000434586.1:p.Ser23167Gly
ENST00000589042.5:c.96694A>G (TTN) MANE Select ENSP00000467141.1:p.Ser32232Gly
ENST00000591111.5:c.91771A>G (TTN) ENSP00000465570.1:p.Ser30591Gly
ENST00000615779.4:c.91771A>G (TTN) ENSP00000483597.1:p.Ser30591Gly
NM_001256850.1:c.91771A>G (TTN) NP_001243779.1:p.Ser30591Gly
NM_001267550.2:c.96694A>G (TTN) MANE Select NP_001254479.2:p.Ser32232Gly
NM_003319.4:c.69499A>G (TTN) NP_003310.4:p.Ser23167Gly
NM_133378.4:c.88990A>G (TTN) NP_596869.4:p.Ser29664Gly
NM_133432.3:c.69874A>G (TTN) NP_597676.3:p.Ser23292Gly
NM_133437.4:c.70075A>G (TTN) NP_597681.4:p.Ser23359Gly
NR_038271.1:n.446+19643T>C (TTN-AS1)
NR_038272.1:n.2043+918T>C (TTN-AS1)
XM_011511729.1:c.95791A>G (TTN) XP_011510031.1:p.Ser31931Gly
XM_011511730.1:c.69685A>G (TTN) XP_011510032.1:p.Ser23229Gly
XM_011511731.1:c.69544A>G (TTN) XP_011510033.1:p.Ser23182Gly
XM_017004819.1:c.95587A>G (TTN) XP_016860308.1:p.Ser31863Gly
XM_017004820.1:c.90985A>G (TTN) XP_016860309.1:p.Ser30329Gly
XM_017004821.1:c.90982A>G (TTN) XP_016860310.1:p.Ser30328Gly
XM_017004822.1:c.88024A>G (TTN) XP_016860311.1:p.Ser29342Gly
XM_017004823.1:c.69640A>G (TTN) XP_016860312.1:p.Ser23214Gly
XM_024453094.1:c.91135A>G (TTN) XP_024308862.1:p.Ser30379Gly
XM_024453095.1:c.91132A>G (TTN) XP_024308863.1:p.Ser30378Gly
XM_024453096.1:c.90565A>G (TTN) XP_024308864.1:p.Ser30189Gly
XM_024453097.1:c.87907A>G (TTN) XP_024308865.1:p.Ser29303Gly
XM_024453098.1:c.87826A>G (TTN) XP_024308866.1:p.Ser29276Gly
XM_024453099.1:c.69589A>G (TTN) XP_024308867.1:p.Ser23197Gly
XM_024453100.1:c.59443A>G (TTN) XP_024308868.1:p.Ser19815Gly