Canonical Allele Identifier: CA349658714

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574896A>G , CM000664.2:g.178574896A>G GRCh38
NC_000002.11:g.179439623A>G , CM000664.1:g.179439623A>G GRCh37
NC_000002.10:g.179147869A>G NCBI36
NG_011618.3:g.260907T>C , LRG_391:g.260907T>C
NG_051363.1:g.57070A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63532T>C (TTN) ENSP00000343764.6:p.Phe21178Leu
ENST00000342175.11:c.44617T>C (TTN) ENSP00000340554.6:p.Phe14873Leu
ENST00000359218.10:c.44416T>C (TTN) ENSP00000352154.5:p.Phe14806Leu
ENST00000342175.10:c.44617T>C (TTN) ENSP00000340554.6:p.Phe14873Leu
ENST00000342992.10:c.63532T>C (TTN) ENSP00000343764.6:p.Phe21178Leu
ENST00000359218.9:c.44416T>C (TTN) ENSP00000352154.5:p.Phe14806Leu
ENST00000460472.6:c.44041T>C (TTN) ENSP00000434586.1:p.Phe14681Leu
ENST00000589042.5:c.71236T>C (TTN) MANE Select ENSP00000467141.1:p.Phe23746Leu
ENST00000591111.5:c.66313T>C (TTN) ENSP00000465570.1:p.Phe22105Leu
ENST00000615779.4:c.66313T>C (TTN) ENSP00000483597.1:p.Phe22105Leu
NM_001256850.1:c.66313T>C (TTN) NP_001243779.1:p.Phe22105Leu
NM_001267550.2:c.71236T>C (TTN) MANE Select NP_001254479.2:p.Phe23746Leu
NM_003319.4:c.44041T>C (TTN) NP_003310.4:p.Phe14681Leu
NM_133378.4:c.63532T>C (TTN) NP_596869.4:p.Phe21178Leu
NM_133432.3:c.44416T>C (TTN) NP_597676.3:p.Phe14806Leu
NM_133437.4:c.44617T>C (TTN) NP_597681.4:p.Phe14873Leu
NR_038271.1:n.596+3447A>G (TTN-AS1)
NR_038272.1:n.2044-7676A>G (TTN-AS1)
XM_011511729.1:c.70333T>C (TTN) XP_011510031.1:p.Phe23445Leu
XM_011511730.1:c.44227T>C (TTN) XP_011510032.1:p.Phe14743Leu
XM_011511731.1:c.44086T>C (TTN) XP_011510033.1:p.Phe14696Leu
XM_017004819.1:c.70129T>C (TTN) XP_016860308.1:p.Phe23377Leu
XM_017004820.1:c.65527T>C (TTN) XP_016860309.1:p.Phe21843Leu
XM_017004821.1:c.65524T>C (TTN) XP_016860310.1:p.Phe21842Leu
XM_017004822.1:c.62566T>C (TTN) XP_016860311.1:p.Phe20856Leu
XM_017004823.1:c.44182T>C (TTN) XP_016860312.1:p.Phe14728Leu
XM_024453094.1:c.65677T>C (TTN) XP_024308862.1:p.Phe21893Leu
XM_024453095.1:c.65674T>C (TTN) XP_024308863.1:p.Phe21892Leu
XM_024453096.1:c.65107T>C (TTN) XP_024308864.1:p.Phe21703Leu
XM_024453097.1:c.62449T>C (TTN) XP_024308865.1:p.Phe20817Leu
XM_024453098.1:c.62368T>C (TTN) XP_024308866.1:p.Phe20790Leu
XM_024453099.1:c.44131T>C (TTN) XP_024308867.1:p.Phe14711Leu
XM_024453100.1:c.33985T>C (TTN) XP_024308868.1:p.Phe11329Leu