Canonical Allele Identifier: CA349618341

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618073C>A , CM000664.2:g.178618073C>A GRCh38
NC_000002.11:g.179482800C>A , CM000664.1:g.179482800C>A GRCh37
NC_000002.10:g.179191045C>A NCBI36
NG_011618.3:g.217730G>T , LRG_391:g.217730G>T
NG_051363.1:g.100247C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39574G>T (TTN) ENSP00000343764.6:p.Gly13192Cys
ENST00000342175.11:c.20659G>T (TTN) ENSP00000340554.6:p.Gly6887Cys
ENST00000359218.10:c.20458G>T (TTN) ENSP00000352154.5:p.Gly6820Cys
ENST00000342175.10:c.20659G>T (TTN) ENSP00000340554.6:p.Gly6887Cys
ENST00000342992.10:c.39574G>T (TTN) ENSP00000343764.6:p.Gly13192Cys
ENST00000359218.9:c.20458G>T (TTN) ENSP00000352154.5:p.Gly6820Cys
ENST00000460472.6:c.20083G>T (TTN) ENSP00000434586.1:p.Gly6695Cys
ENST00000589042.5:c.47278G>T (TTN) MANE Select ENSP00000467141.1:p.Gly15760Cys
ENST00000591111.5:c.42355G>T (TTN) ENSP00000465570.1:p.Gly14119Cys
ENST00000615779.4:c.42355G>T (TTN) ENSP00000483597.1:p.Gly14119Cys
NM_001256850.1:c.42355G>T (TTN) NP_001243779.1:p.Gly14119Cys
NM_001267550.2:c.47278G>T (TTN) MANE Select NP_001254479.2:p.Gly15760Cys
NM_003319.4:c.20083G>T (TTN) NP_003310.4:p.Gly6695Cys
NM_133378.4:c.39574G>T (TTN) NP_596869.4:p.Gly13192Cys
NM_133432.3:c.20458G>T (TTN) NP_597676.3:p.Gly6820Cys
NM_133437.4:c.20659G>T (TTN) NP_597681.4:p.Gly6887Cys
NR_038271.1:n.1605-1680C>A (TTN-AS1)
XM_011511729.1:c.46375G>T (TTN) XP_011510031.1:p.Gly15459Cys
XM_011511730.1:c.20269G>T (TTN) XP_011510032.1:p.Gly6757Cys
XM_011511731.1:c.20128G>T (TTN) XP_011510033.1:p.Gly6710Cys
XM_017004819.1:c.46171G>T (TTN) XP_016860308.1:p.Gly15391Cys
XM_017004820.1:c.41569G>T (TTN) XP_016860309.1:p.Gly13857Cys
XM_017004821.1:c.41566G>T (TTN) XP_016860310.1:p.Gly13856Cys
XM_017004822.1:c.38608G>T (TTN) XP_016860311.1:p.Gly12870Cys
XM_017004823.1:c.20224G>T (TTN) XP_016860312.1:p.Gly6742Cys
XM_024453094.1:c.41719G>T (TTN) XP_024308862.1:p.Gly13907Cys
XM_024453095.1:c.41716G>T (TTN) XP_024308863.1:p.Gly13906Cys
XM_024453096.1:c.41149G>T (TTN) XP_024308864.1:p.Gly13717Cys
XM_024453097.1:c.38491G>T (TTN) XP_024308865.1:p.Gly12831Cys
XM_024453098.1:c.38410G>T (TTN) XP_024308866.1:p.Gly12804Cys
XM_024453099.1:c.20173G>T (TTN) XP_024308867.1:p.Gly6725Cys
XM_024453100.1:c.10027G>T (TTN) XP_024308868.1:p.Gly3343Cys