Canonical Allele Identifier: CA349411847

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532228T>G , CM000664.2:g.178532228T>G GRCh38
NC_000002.11:g.179396955T>G , CM000664.1:g.179396955T>G GRCh37
NC_000002.10:g.179105201T>G NCBI36
NG_011618.3:g.303575A>C , LRG_391:g.303575A>C
NG_051363.1:g.14402T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96683A>C (TTN) ENSP00000343764.6:p.Glu32228Ala
ENST00000342175.11:c.77768A>C (TTN) ENSP00000340554.6:p.Glu25923Ala
ENST00000359218.10:c.77567A>C (TTN) ENSP00000352154.5:p.Glu25856Ala
ENST00000342175.10:c.77768A>C (TTN) ENSP00000340554.6:p.Glu25923Ala
ENST00000342992.10:c.96683A>C (TTN) ENSP00000343764.6:p.Glu32228Ala
ENST00000359218.9:c.77567A>C (TTN) ENSP00000352154.5:p.Glu25856Ala
ENST00000460472.6:c.77192A>C (TTN) ENSP00000434586.1:p.Glu25731Ala
ENST00000589042.5:c.104387A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34796Ala
ENST00000591111.5:c.99464A>C (TTN) ENSP00000465570.1:p.Glu33155Ala
ENST00000615779.4:c.99464A>C (TTN) ENSP00000483597.1:p.Glu33155Ala
NM_001256850.1:c.99464A>C (TTN) NP_001243779.1:p.Glu33155Ala
NM_001267550.2:c.104387A>C (TTN) MANE Select NP_001254479.2:p.Glu34796Ala
NM_003319.4:c.77192A>C (TTN) NP_003310.4:p.Glu25731Ala
NM_133378.4:c.96683A>C (TTN) NP_596869.4:p.Glu32228Ala
NM_133432.3:c.77567A>C (TTN) NP_597676.3:p.Glu25856Ala
NM_133437.4:c.77768A>C (TTN) NP_597681.4:p.Glu25923Ala
NR_038271.1:n.446+8592T>G (TTN-AS1)
NR_038272.1:n.220-3504T>G (TTN-AS1)
XM_011511729.1:c.103484A>C (TTN) XP_011510031.1:p.Glu34495Ala
XM_011511730.1:c.77378A>C (TTN) XP_011510032.1:p.Glu25793Ala
XM_011511731.1:c.77237A>C (TTN) XP_011510033.1:p.Glu25746Ala
XM_017004819.1:c.103280A>C (TTN) XP_016860308.1:p.Glu34427Ala
XM_017004820.1:c.98678A>C (TTN) XP_016860309.1:p.Glu32893Ala
XM_017004821.1:c.98675A>C (TTN) XP_016860310.1:p.Glu32892Ala
XM_017004822.1:c.95717A>C (TTN) XP_016860311.1:p.Glu31906Ala
XM_017004823.1:c.77333A>C (TTN) XP_016860312.1:p.Glu25778Ala
XM_024453094.1:c.98828A>C (TTN) XP_024308862.1:p.Glu32943Ala
XM_024453095.1:c.98825A>C (TTN) XP_024308863.1:p.Glu32942Ala
XM_024453096.1:c.98258A>C (TTN) XP_024308864.1:p.Glu32753Ala
XM_024453097.1:c.95600A>C (TTN) XP_024308865.1:p.Glu31867Ala
XM_024453098.1:c.95519A>C (TTN) XP_024308866.1:p.Glu31840Ala
XM_024453099.1:c.77282A>C (TTN) XP_024308867.1:p.Glu25761Ala
XM_024453100.1:c.67136A>C (TTN) XP_024308868.1:p.Glu22379Ala