Canonical Allele Identifier: CA1985111

Linked Data

dbSNP Id: rs528138560

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530100C>T , CM000664.2:g.178530100C>T GRCh38
NC_000002.11:g.179394827C>T , CM000664.1:g.179394827C>T GRCh37
NC_000002.10:g.179103073C>T NCBI36
NG_011618.3:g.305703G>A , LRG_391:g.305703G>A
NG_051363.1:g.12274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98687G>A (TTN) ENSP00000343764.6:p.Gly32896Asp
ENST00000342175.11:c.79772G>A (TTN) ENSP00000340554.6:p.Gly26591Asp
ENST00000359218.10:c.79571G>A (TTN) ENSP00000352154.5:p.Gly26524Asp
ENST00000342175.10:c.79772G>A (TTN) ENSP00000340554.6:p.Gly26591Asp
ENST00000342992.10:c.98687G>A (TTN) ENSP00000343764.6:p.Gly32896Asp
ENST00000359218.9:c.79571G>A (TTN) ENSP00000352154.5:p.Gly26524Asp
ENST00000460472.6:c.79196G>A (TTN) ENSP00000434586.1:p.Gly26399Asp
ENST00000589042.5:c.106391G>A (TTN) MANE Select ENSP00000467141.1:p.Gly35464Asp
ENST00000591111.5:c.101468G>A (TTN) ENSP00000465570.1:p.Gly33823Asp
ENST00000615779.4:c.101468G>A (TTN) ENSP00000483597.1:p.Gly33823Asp
NM_001256850.1:c.101468G>A (TTN) NP_001243779.1:p.Gly33823Asp
NM_001267550.2:c.106391G>A (TTN) MANE Select NP_001254479.2:p.Gly35464Asp
NM_003319.4:c.79196G>A (TTN) NP_003310.4:p.Gly26399Asp
NM_133378.4:c.98687G>A (TTN) NP_596869.4:p.Gly32896Asp
NM_133432.3:c.79571G>A (TTN) NP_597676.3:p.Gly26524Asp
NM_133437.4:c.79772G>A (TTN) NP_597681.4:p.Gly26591Asp
NR_038271.1:n.446+6464C>T (TTN-AS1)
NR_038272.1:n.220-5632C>T (TTN-AS1)
XM_011511729.1:c.105488G>A (TTN) XP_011510031.1:p.Gly35163Asp
XM_011511730.1:c.79382G>A (TTN) XP_011510032.1:p.Gly26461Asp
XM_011511731.1:c.79241G>A (TTN) XP_011510033.1:p.Gly26414Asp
XM_017004819.1:c.105284G>A (TTN) XP_016860308.1:p.Gly35095Asp
XM_017004820.1:c.100682G>A (TTN) XP_016860309.1:p.Gly33561Asp
XM_017004821.1:c.100679G>A (TTN) XP_016860310.1:p.Gly33560Asp
XM_017004822.1:c.97721G>A (TTN) XP_016860311.1:p.Gly32574Asp
XM_017004823.1:c.79337G>A (TTN) XP_016860312.1:p.Gly26446Asp
XM_024453094.1:c.100832G>A (TTN) XP_024308862.1:p.Gly33611Asp
XM_024453095.1:c.100829G>A (TTN) XP_024308863.1:p.Gly33610Asp
XM_024453096.1:c.100262G>A (TTN) XP_024308864.1:p.Gly33421Asp
XM_024453097.1:c.97604G>A (TTN) XP_024308865.1:p.Gly32535Asp
XM_024453098.1:c.97523G>A (TTN) XP_024308866.1:p.Gly32508Asp
XM_024453099.1:c.79286G>A (TTN) XP_024308867.1:p.Gly26429Asp
XM_024453100.1:c.69140G>A (TTN) XP_024308868.1:p.Gly23047Asp