Canonical Allele Identifier: CA349407083

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530537C>T , CM000664.2:g.178530537C>T GRCh38
NC_000002.11:g.179395264C>T , CM000664.1:g.179395264C>T GRCh37
NC_000002.10:g.179103510C>T NCBI36
NG_011618.3:g.305266G>A , LRG_391:g.305266G>A
NG_051363.1:g.12711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98374G>A (TTN) ENSP00000343764.6:p.Glu32792Lys
ENST00000342175.11:c.79459G>A (TTN) ENSP00000340554.6:p.Glu26487Lys
ENST00000359218.10:c.79258G>A (TTN) ENSP00000352154.5:p.Glu26420Lys
ENST00000342175.10:c.79459G>A (TTN) ENSP00000340554.6:p.Glu26487Lys
ENST00000342992.10:c.98374G>A (TTN) ENSP00000343764.6:p.Glu32792Lys
ENST00000359218.9:c.79258G>A (TTN) ENSP00000352154.5:p.Glu26420Lys
ENST00000460472.6:c.78883G>A (TTN) ENSP00000434586.1:p.Glu26295Lys
ENST00000589042.5:c.106078G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35360Lys
ENST00000591111.5:c.101155G>A (TTN) ENSP00000465570.1:p.Glu33719Lys
ENST00000615779.4:c.101155G>A (TTN) ENSP00000483597.1:p.Glu33719Lys
NM_001256850.1:c.101155G>A (TTN) NP_001243779.1:p.Glu33719Lys
NM_001267550.2:c.106078G>A (TTN) MANE Select NP_001254479.2:p.Glu35360Lys
NM_003319.4:c.78883G>A (TTN) NP_003310.4:p.Glu26295Lys
NM_133378.4:c.98374G>A (TTN) NP_596869.4:p.Glu32792Lys
NM_133432.3:c.79258G>A (TTN) NP_597676.3:p.Glu26420Lys
NM_133437.4:c.79459G>A (TTN) NP_597681.4:p.Glu26487Lys
NR_038271.1:n.446+6901C>T (TTN-AS1)
NR_038272.1:n.220-5195C>T (TTN-AS1)
XM_011511729.1:c.105175G>A (TTN) XP_011510031.1:p.Glu35059Lys
XM_011511730.1:c.79069G>A (TTN) XP_011510032.1:p.Glu26357Lys
XM_011511731.1:c.78928G>A (TTN) XP_011510033.1:p.Glu26310Lys
XM_017004819.1:c.104971G>A (TTN) XP_016860308.1:p.Glu34991Lys
XM_017004820.1:c.100369G>A (TTN) XP_016860309.1:p.Glu33457Lys
XM_017004821.1:c.100366G>A (TTN) XP_016860310.1:p.Glu33456Lys
XM_017004822.1:c.97408G>A (TTN) XP_016860311.1:p.Glu32470Lys
XM_017004823.1:c.79024G>A (TTN) XP_016860312.1:p.Glu26342Lys
XM_024453094.1:c.100519G>A (TTN) XP_024308862.1:p.Glu33507Lys
XM_024453095.1:c.100516G>A (TTN) XP_024308863.1:p.Glu33506Lys
XM_024453096.1:c.99949G>A (TTN) XP_024308864.1:p.Glu33317Lys
XM_024453097.1:c.97291G>A (TTN) XP_024308865.1:p.Glu32431Lys
XM_024453098.1:c.97210G>A (TTN) XP_024308866.1:p.Glu32404Lys
XM_024453099.1:c.78973G>A (TTN) XP_024308867.1:p.Glu26325Lys
XM_024453100.1:c.68827G>A (TTN) XP_024308868.1:p.Glu22943Lys