Canonical Allele Identifier: CA349564231

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562308T>C , CM000664.2:g.178562308T>C GRCh38
NC_000002.11:g.179427035T>C , CM000664.1:g.179427035T>C GRCh37
NC_000002.10:g.179135281T>C NCBI36
NG_011618.3:g.273495A>G , LRG_391:g.273495A>G
NG_051363.1:g.44482T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76120A>G (TTN) ENSP00000343764.6:p.Lys25374Glu
ENST00000342175.11:c.57205A>G (TTN) ENSP00000340554.6:p.Lys19069Glu
ENST00000359218.10:c.57004A>G (TTN) ENSP00000352154.5:p.Lys19002Glu
ENST00000342175.10:c.57205A>G (TTN) ENSP00000340554.6:p.Lys19069Glu
ENST00000342992.10:c.76120A>G (TTN) ENSP00000343764.6:p.Lys25374Glu
ENST00000359218.9:c.57004A>G (TTN) ENSP00000352154.5:p.Lys19002Glu
ENST00000460472.6:c.56629A>G (TTN) ENSP00000434586.1:p.Lys18877Glu
ENST00000589042.5:c.83824A>G (TTN) MANE Select ENSP00000467141.1:p.Lys27942Glu
ENST00000591111.5:c.78901A>G (TTN) ENSP00000465570.1:p.Lys26301Glu
ENST00000615779.4:c.78901A>G (TTN) ENSP00000483597.1:p.Lys26301Glu
NM_001256850.1:c.78901A>G (TTN) NP_001243779.1:p.Lys26301Glu
NM_001267550.2:c.83824A>G (TTN) MANE Select NP_001254479.2:p.Lys27942Glu
NM_003319.4:c.56629A>G (TTN) NP_003310.4:p.Lys18877Glu
NM_133378.4:c.76120A>G (TTN) NP_596869.4:p.Lys25374Glu
NM_133432.3:c.57004A>G (TTN) NP_597676.3:p.Lys19002Glu
NM_133437.4:c.57205A>G (TTN) NP_597681.4:p.Lys19069Glu
NR_038271.1:n.447-8992T>C (TTN-AS1)
NR_038272.1:n.2043+19947T>C (TTN-AS1)
XM_011511729.1:c.82921A>G (TTN) XP_011510031.1:p.Lys27641Glu
XM_011511730.1:c.56815A>G (TTN) XP_011510032.1:p.Lys18939Glu
XM_011511731.1:c.56674A>G (TTN) XP_011510033.1:p.Lys18892Glu
XM_017004819.1:c.82717A>G (TTN) XP_016860308.1:p.Lys27573Glu
XM_017004820.1:c.78115A>G (TTN) XP_016860309.1:p.Lys26039Glu
XM_017004821.1:c.78112A>G (TTN) XP_016860310.1:p.Lys26038Glu
XM_017004822.1:c.75154A>G (TTN) XP_016860311.1:p.Lys25052Glu
XM_017004823.1:c.56770A>G (TTN) XP_016860312.1:p.Lys18924Glu
XM_024453094.1:c.78265A>G (TTN) XP_024308862.1:p.Lys26089Glu
XM_024453095.1:c.78262A>G (TTN) XP_024308863.1:p.Lys26088Glu
XM_024453096.1:c.77695A>G (TTN) XP_024308864.1:p.Lys25899Glu
XM_024453097.1:c.75037A>G (TTN) XP_024308865.1:p.Lys25013Glu
XM_024453098.1:c.74956A>G (TTN) XP_024308866.1:p.Lys24986Glu
XM_024453099.1:c.56719A>G (TTN) XP_024308867.1:p.Lys18907Glu
XM_024453100.1:c.46573A>G (TTN) XP_024308868.1:p.Lys15525Glu