Canonical Allele Identifier: CA349535050

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557710T>C , CM000664.2:g.178557710T>C GRCh38
NC_000002.11:g.179422437T>C , CM000664.1:g.179422437T>C GRCh37
NC_000002.10:g.179130683T>C NCBI36
NG_011618.3:g.278093A>G , LRG_391:g.278093A>G
NG_051363.1:g.39884T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79940A>G (TTN) ENSP00000343764.6:p.Glu26647Gly
ENST00000342175.11:c.61025A>G (TTN) ENSP00000340554.6:p.Glu20342Gly
ENST00000359218.10:c.60824A>G (TTN) ENSP00000352154.5:p.Glu20275Gly
ENST00000342175.10:c.61025A>G (TTN) ENSP00000340554.6:p.Glu20342Gly
ENST00000342992.10:c.79940A>G (TTN) ENSP00000343764.6:p.Glu26647Gly
ENST00000359218.9:c.60824A>G (TTN) ENSP00000352154.5:p.Glu20275Gly
ENST00000460472.6:c.60449A>G (TTN) ENSP00000434586.1:p.Glu20150Gly
ENST00000589042.5:c.87644A>G (TTN) MANE Select ENSP00000467141.1:p.Glu29215Gly
ENST00000591111.5:c.82721A>G (TTN) ENSP00000465570.1:p.Glu27574Gly
ENST00000615779.4:c.82721A>G (TTN) ENSP00000483597.1:p.Glu27574Gly
NM_001256850.1:c.82721A>G (TTN) NP_001243779.1:p.Glu27574Gly
NM_001267550.2:c.87644A>G (TTN) MANE Select NP_001254479.2:p.Glu29215Gly
NM_003319.4:c.60449A>G (TTN) NP_003310.4:p.Glu20150Gly
NM_133378.4:c.79940A>G (TTN) NP_596869.4:p.Glu26647Gly
NM_133432.3:c.60824A>G (TTN) NP_597676.3:p.Glu20275Gly
NM_133437.4:c.61025A>G (TTN) NP_597681.4:p.Glu20342Gly
NR_038271.1:n.447-13590T>C (TTN-AS1)
NR_038272.1:n.2043+15349T>C (TTN-AS1)
XM_011511729.1:c.86741A>G (TTN) XP_011510031.1:p.Glu28914Gly
XM_011511730.1:c.60635A>G (TTN) XP_011510032.1:p.Glu20212Gly
XM_011511731.1:c.60494A>G (TTN) XP_011510033.1:p.Glu20165Gly
XM_017004819.1:c.86537A>G (TTN) XP_016860308.1:p.Glu28846Gly
XM_017004820.1:c.81935A>G (TTN) XP_016860309.1:p.Glu27312Gly
XM_017004821.1:c.81932A>G (TTN) XP_016860310.1:p.Glu27311Gly
XM_017004822.1:c.78974A>G (TTN) XP_016860311.1:p.Glu26325Gly
XM_017004823.1:c.60590A>G (TTN) XP_016860312.1:p.Glu20197Gly
XM_024453094.1:c.82085A>G (TTN) XP_024308862.1:p.Glu27362Gly
XM_024453095.1:c.82082A>G (TTN) XP_024308863.1:p.Glu27361Gly
XM_024453096.1:c.81515A>G (TTN) XP_024308864.1:p.Glu27172Gly
XM_024453097.1:c.78857A>G (TTN) XP_024308865.1:p.Glu26286Gly
XM_024453098.1:c.78776A>G (TTN) XP_024308866.1:p.Glu26259Gly
XM_024453099.1:c.60539A>G (TTN) XP_024308867.1:p.Glu20180Gly
XM_024453100.1:c.50393A>G (TTN) XP_024308868.1:p.Glu16798Gly