Canonical Allele Identifier: CA349411020

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531871T>G , CM000664.2:g.178531871T>G GRCh38
NC_000002.11:g.179396598T>G , CM000664.1:g.179396598T>G GRCh37
NC_000002.10:g.179104844T>G NCBI36
NG_011618.3:g.303932A>C , LRG_391:g.303932A>C
NG_051363.1:g.14045T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97040A>C (TTN) ENSP00000343764.6:p.Lys32347Thr
ENST00000342175.11:c.78125A>C (TTN) ENSP00000340554.6:p.Lys26042Thr
ENST00000359218.10:c.77924A>C (TTN) ENSP00000352154.5:p.Lys25975Thr
ENST00000342175.10:c.78125A>C (TTN) ENSP00000340554.6:p.Lys26042Thr
ENST00000342992.10:c.97040A>C (TTN) ENSP00000343764.6:p.Lys32347Thr
ENST00000359218.9:c.77924A>C (TTN) ENSP00000352154.5:p.Lys25975Thr
ENST00000460472.6:c.77549A>C (TTN) ENSP00000434586.1:p.Lys25850Thr
ENST00000589042.5:c.104744A>C (TTN) MANE Select ENSP00000467141.1:p.Lys34915Thr
ENST00000591111.5:c.99821A>C (TTN) ENSP00000465570.1:p.Lys33274Thr
ENST00000615779.4:c.99821A>C (TTN) ENSP00000483597.1:p.Lys33274Thr
NM_001256850.1:c.99821A>C (TTN) NP_001243779.1:p.Lys33274Thr
NM_001267550.2:c.104744A>C (TTN) MANE Select NP_001254479.2:p.Lys34915Thr
NM_003319.4:c.77549A>C (TTN) NP_003310.4:p.Lys25850Thr
NM_133378.4:c.97040A>C (TTN) NP_596869.4:p.Lys32347Thr
NM_133432.3:c.77924A>C (TTN) NP_597676.3:p.Lys25975Thr
NM_133437.4:c.78125A>C (TTN) NP_597681.4:p.Lys26042Thr
NR_038271.1:n.446+8235T>G (TTN-AS1)
NR_038272.1:n.220-3861T>G (TTN-AS1)
XM_011511729.1:c.103841A>C (TTN) XP_011510031.1:p.Lys34614Thr
XM_011511730.1:c.77735A>C (TTN) XP_011510032.1:p.Lys25912Thr
XM_011511731.1:c.77594A>C (TTN) XP_011510033.1:p.Lys25865Thr
XM_017004819.1:c.103637A>C (TTN) XP_016860308.1:p.Lys34546Thr
XM_017004820.1:c.99035A>C (TTN) XP_016860309.1:p.Lys33012Thr
XM_017004821.1:c.99032A>C (TTN) XP_016860310.1:p.Lys33011Thr
XM_017004822.1:c.96074A>C (TTN) XP_016860311.1:p.Lys32025Thr
XM_017004823.1:c.77690A>C (TTN) XP_016860312.1:p.Lys25897Thr
XM_024453094.1:c.99185A>C (TTN) XP_024308862.1:p.Lys33062Thr
XM_024453095.1:c.99182A>C (TTN) XP_024308863.1:p.Lys33061Thr
XM_024453096.1:c.98615A>C (TTN) XP_024308864.1:p.Lys32872Thr
XM_024453097.1:c.95957A>C (TTN) XP_024308865.1:p.Lys31986Thr
XM_024453098.1:c.95876A>C (TTN) XP_024308866.1:p.Lys31959Thr
XM_024453099.1:c.77639A>C (TTN) XP_024308867.1:p.Lys25880Thr
XM_024453100.1:c.67493A>C (TTN) XP_024308868.1:p.Lys22498Thr