Canonical Allele Identifier: CA349411500

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532103T>C , CM000664.2:g.178532103T>C GRCh38
NC_000002.11:g.179396830T>C , CM000664.1:g.179396830T>C GRCh37
NC_000002.10:g.179105076T>C NCBI36
NG_011618.3:g.303700A>G , LRG_391:g.303700A>G
NG_051363.1:g.14277T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96808A>G (TTN) ENSP00000343764.6:p.Arg32270Gly
ENST00000342175.11:c.77893A>G (TTN) ENSP00000340554.6:p.Arg25965Gly
ENST00000359218.10:c.77692A>G (TTN) ENSP00000352154.5:p.Arg25898Gly
ENST00000342175.10:c.77893A>G (TTN) ENSP00000340554.6:p.Arg25965Gly
ENST00000342992.10:c.96808A>G (TTN) ENSP00000343764.6:p.Arg32270Gly
ENST00000359218.9:c.77692A>G (TTN) ENSP00000352154.5:p.Arg25898Gly
ENST00000460472.6:c.77317A>G (TTN) ENSP00000434586.1:p.Arg25773Gly
ENST00000589042.5:c.104512A>G (TTN) MANE Select ENSP00000467141.1:p.Arg34838Gly
ENST00000591111.5:c.99589A>G (TTN) ENSP00000465570.1:p.Arg33197Gly
ENST00000615779.4:c.99589A>G (TTN) ENSP00000483597.1:p.Arg33197Gly
NM_001256850.1:c.99589A>G (TTN) NP_001243779.1:p.Arg33197Gly
NM_001267550.2:c.104512A>G (TTN) MANE Select NP_001254479.2:p.Arg34838Gly
NM_003319.4:c.77317A>G (TTN) NP_003310.4:p.Arg25773Gly
NM_133378.4:c.96808A>G (TTN) NP_596869.4:p.Arg32270Gly
NM_133432.3:c.77692A>G (TTN) NP_597676.3:p.Arg25898Gly
NM_133437.4:c.77893A>G (TTN) NP_597681.4:p.Arg25965Gly
NR_038271.1:n.446+8467T>C (TTN-AS1)
NR_038272.1:n.220-3629T>C (TTN-AS1)
XM_011511729.1:c.103609A>G (TTN) XP_011510031.1:p.Arg34537Gly
XM_011511730.1:c.77503A>G (TTN) XP_011510032.1:p.Arg25835Gly
XM_011511731.1:c.77362A>G (TTN) XP_011510033.1:p.Arg25788Gly
XM_017004819.1:c.103405A>G (TTN) XP_016860308.1:p.Arg34469Gly
XM_017004820.1:c.98803A>G (TTN) XP_016860309.1:p.Arg32935Gly
XM_017004821.1:c.98800A>G (TTN) XP_016860310.1:p.Arg32934Gly
XM_017004822.1:c.95842A>G (TTN) XP_016860311.1:p.Arg31948Gly
XM_017004823.1:c.77458A>G (TTN) XP_016860312.1:p.Arg25820Gly
XM_024453094.1:c.98953A>G (TTN) XP_024308862.1:p.Arg32985Gly
XM_024453095.1:c.98950A>G (TTN) XP_024308863.1:p.Arg32984Gly
XM_024453096.1:c.98383A>G (TTN) XP_024308864.1:p.Arg32795Gly
XM_024453097.1:c.95725A>G (TTN) XP_024308865.1:p.Arg31909Gly
XM_024453098.1:c.95644A>G (TTN) XP_024308866.1:p.Arg31882Gly
XM_024453099.1:c.77407A>G (TTN) XP_024308867.1:p.Arg25803Gly
XM_024453100.1:c.67261A>G (TTN) XP_024308868.1:p.Arg22421Gly