Canonical Allele Identifier: CA60970851

Linked Data

dbSNP Id: rs1012857880

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592781T>C , CM000664.2:g.178592781T>C GRCh38
NC_000002.11:g.179457508T>C , CM000664.1:g.179457508T>C GRCh37
NC_000002.10:g.179165754T>C NCBI36
NG_011618.3:g.243022A>G , LRG_391:g.243022A>G
NG_051363.1:g.74955T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51634A>G (TTN) ENSP00000343764.6:p.Arg17212Gly
ENST00000342175.11:c.32719A>G (TTN) ENSP00000340554.6:p.Arg10907Gly
ENST00000359218.10:c.32518A>G (TTN) ENSP00000352154.5:p.Arg10840Gly
ENST00000342175.10:c.32719A>G (TTN) ENSP00000340554.6:p.Arg10907Gly
ENST00000342992.10:c.51634A>G (TTN) ENSP00000343764.6:p.Arg17212Gly
ENST00000359218.9:c.32518A>G (TTN) ENSP00000352154.5:p.Arg10840Gly
ENST00000460472.6:c.32143A>G (TTN) ENSP00000434586.1:p.Arg10715Gly
ENST00000589042.5:c.59338A>G (TTN) MANE Select ENSP00000467141.1:p.Arg19780Gly
ENST00000591111.5:c.54415A>G (TTN) ENSP00000465570.1:p.Arg18139Gly
ENST00000615779.4:c.54415A>G (TTN) ENSP00000483597.1:p.Arg18139Gly
NM_001256850.1:c.54415A>G (TTN) NP_001243779.1:p.Arg18139Gly
NM_001267550.2:c.59338A>G (TTN) MANE Select NP_001254479.2:p.Arg19780Gly
NM_003319.4:c.32143A>G (TTN) NP_003310.4:p.Arg10715Gly
NM_133378.4:c.51634A>G (TTN) NP_596869.4:p.Arg17212Gly
NM_133432.3:c.32518A>G (TTN) NP_597676.3:p.Arg10840Gly
NM_133437.4:c.32719A>G (TTN) NP_597681.4:p.Arg10907Gly
NR_038271.1:n.597-4815T>C (TTN-AS1)
NR_038272.1:n.3364+1467T>C (TTN-AS1)
XM_011511729.1:c.58435A>G (TTN) XP_011510031.1:p.Arg19479Gly
XM_011511730.1:c.32329A>G (TTN) XP_011510032.1:p.Arg10777Gly
XM_011511731.1:c.32188A>G (TTN) XP_011510033.1:p.Arg10730Gly
XM_017004819.1:c.58231A>G (TTN) XP_016860308.1:p.Arg19411Gly
XM_017004820.1:c.53629A>G (TTN) XP_016860309.1:p.Arg17877Gly
XM_017004821.1:c.53626A>G (TTN) XP_016860310.1:p.Arg17876Gly
XM_017004822.1:c.50668A>G (TTN) XP_016860311.1:p.Arg16890Gly
XM_017004823.1:c.32284A>G (TTN) XP_016860312.1:p.Arg10762Gly
XM_024453094.1:c.53779A>G (TTN) XP_024308862.1:p.Arg17927Gly
XM_024453095.1:c.53776A>G (TTN) XP_024308863.1:p.Arg17926Gly
XM_024453096.1:c.53209A>G (TTN) XP_024308864.1:p.Arg17737Gly
XM_024453097.1:c.50551A>G (TTN) XP_024308865.1:p.Arg16851Gly
XM_024453098.1:c.50470A>G (TTN) XP_024308866.1:p.Arg16824Gly
XM_024453099.1:c.32233A>G (TTN) XP_024308867.1:p.Arg10745Gly
XM_024453100.1:c.22087A>G (TTN) XP_024308868.1:p.Arg7363Gly