Canonical Allele Identifier: CA349496816

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593079T>G , CM000664.2:g.178593079T>G GRCh38
NC_000002.11:g.179457806T>G , CM000664.1:g.179457806T>G GRCh37
NC_000002.10:g.179166052T>G NCBI36
NG_011618.3:g.242724A>C , LRG_391:g.242724A>C
NG_051363.1:g.75253T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51336A>C (TTN) ENSP00000343764.6:p.Lys17112Asn
ENST00000342175.11:c.32421A>C (TTN) ENSP00000340554.6:p.Lys10807Asn
ENST00000359218.10:c.32220A>C (TTN) ENSP00000352154.5:p.Lys10740Asn
ENST00000342175.10:c.32421A>C (TTN) ENSP00000340554.6:p.Lys10807Asn
ENST00000342992.10:c.51336A>C (TTN) ENSP00000343764.6:p.Lys17112Asn
ENST00000359218.9:c.32220A>C (TTN) ENSP00000352154.5:p.Lys10740Asn
ENST00000460472.6:c.31845A>C (TTN) ENSP00000434586.1:p.Lys10615Asn
ENST00000589042.5:c.59040A>C (TTN) MANE Select ENSP00000467141.1:p.Lys19680Asn
ENST00000591111.5:c.54117A>C (TTN) ENSP00000465570.1:p.Lys18039Asn
ENST00000615779.4:c.54117A>C (TTN) ENSP00000483597.1:p.Lys18039Asn
NM_001256850.1:c.54117A>C (TTN) NP_001243779.1:p.Lys18039Asn
NM_001267550.2:c.59040A>C (TTN) MANE Select NP_001254479.2:p.Lys19680Asn
NM_003319.4:c.31845A>C (TTN) NP_003310.4:p.Lys10615Asn
NM_133378.4:c.51336A>C (TTN) NP_596869.4:p.Lys17112Asn
NM_133432.3:c.32220A>C (TTN) NP_597676.3:p.Lys10740Asn
NM_133437.4:c.32421A>C (TTN) NP_597681.4:p.Lys10807Asn
NR_038271.1:n.597-4517T>G (TTN-AS1)
NR_038272.1:n.3364+1765T>G (TTN-AS1)
XM_011511729.1:c.58137A>C (TTN) XP_011510031.1:p.Lys19379Asn
XM_011511730.1:c.32031A>C (TTN) XP_011510032.1:p.Lys10677Asn
XM_011511731.1:c.31890A>C (TTN) XP_011510033.1:p.Lys10630Asn
XM_017004819.1:c.57933A>C (TTN) XP_016860308.1:p.Lys19311Asn
XM_017004820.1:c.53331A>C (TTN) XP_016860309.1:p.Lys17777Asn
XM_017004821.1:c.53328A>C (TTN) XP_016860310.1:p.Lys17776Asn
XM_017004822.1:c.50370A>C (TTN) XP_016860311.1:p.Lys16790Asn
XM_017004823.1:c.31986A>C (TTN) XP_016860312.1:p.Lys10662Asn
XM_024453094.1:c.53481A>C (TTN) XP_024308862.1:p.Lys17827Asn
XM_024453095.1:c.53478A>C (TTN) XP_024308863.1:p.Lys17826Asn
XM_024453096.1:c.52911A>C (TTN) XP_024308864.1:p.Lys17637Asn
XM_024453097.1:c.50253A>C (TTN) XP_024308865.1:p.Lys16751Asn
XM_024453098.1:c.50172A>C (TTN) XP_024308866.1:p.Lys16724Asn
XM_024453099.1:c.31935A>C (TTN) XP_024308867.1:p.Lys10645Asn
XM_024453100.1:c.21789A>C (TTN) XP_024308868.1:p.Lys7263Asn