Canonical Allele Identifier: CA1993698

Linked Data

ClinVar Variation Id: 229462
dbSNP Id: rs201623791

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605068G>A , CM000664.2:g.178605068G>A GRCh38
NC_000002.11:g.179469795G>A , CM000664.1:g.179469795G>A GRCh37
NC_000002.10:g.179178040G>A NCBI36
NG_011618.3:g.230735C>T , LRG_391:g.230735C>T
NG_051363.1:g.87242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.46405C>T (TTN) ENSP00000343764.6:p.Arg15469Trp
ENST00000342175.11:c.27490C>T (TTN) ENSP00000340554.6:p.Arg9164Trp
ENST00000359218.10:c.27289C>T (TTN) ENSP00000352154.5:p.Arg9097Trp
ENST00000342175.10:c.27490C>T (TTN) ENSP00000340554.6:p.Arg9164Trp
ENST00000342992.10:c.46405C>T (TTN) ENSP00000343764.6:p.Arg15469Trp
ENST00000359218.9:c.27289C>T (TTN) ENSP00000352154.5:p.Arg9097Trp
ENST00000460472.6:c.26914C>T (TTN) ENSP00000434586.1:p.Arg8972Trp
ENST00000589042.5:c.54109C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18037Trp
ENST00000591111.5:c.49186C>T (TTN) ENSP00000465570.1:p.Arg16396Trp
ENST00000615779.4:c.49186C>T (TTN) ENSP00000483597.1:p.Arg16396Trp
NM_001256850.1:c.49186C>T (TTN) NP_001243779.1:p.Arg16396Trp
NM_001267550.2:c.54109C>T (TTN) MANE Select NP_001254479.2:p.Arg18037Trp
NM_003319.4:c.26914C>T (TTN) NP_003310.4:p.Arg8972Trp
NM_133378.4:c.46405C>T (TTN) NP_596869.4:p.Arg15469Trp
NM_133432.3:c.27289C>T (TTN) NP_597676.3:p.Arg9097Trp
NM_133437.4:c.27490C>T (TTN) NP_597681.4:p.Arg9164Trp
NR_038271.1:n.683-3099G>A (TTN-AS1)
NR_038272.1:n.4255G>A (TTN-AS1)
XM_011511729.1:c.53206C>T (TTN) XP_011510031.1:p.Arg17736Trp
XM_011511730.1:c.27100C>T (TTN) XP_011510032.1:p.Arg9034Trp
XM_011511731.1:c.26959C>T (TTN) XP_011510033.1:p.Arg8987Trp
XM_017004819.1:c.53002C>T (TTN) XP_016860308.1:p.Arg17668Trp
XM_017004820.1:c.48400C>T (TTN) XP_016860309.1:p.Arg16134Trp
XM_017004821.1:c.48397C>T (TTN) XP_016860310.1:p.Arg16133Trp
XM_017004822.1:c.45439C>T (TTN) XP_016860311.1:p.Arg15147Trp
XM_017004823.1:c.27055C>T (TTN) XP_016860312.1:p.Arg9019Trp
XM_024453094.1:c.48550C>T (TTN) XP_024308862.1:p.Arg16184Trp
XM_024453095.1:c.48547C>T (TTN) XP_024308863.1:p.Arg16183Trp
XM_024453096.1:c.47980C>T (TTN) XP_024308864.1:p.Arg15994Trp
XM_024453097.1:c.45322C>T (TTN) XP_024308865.1:p.Arg15108Trp
XM_024453098.1:c.45241C>T (TTN) XP_024308866.1:p.Arg15081Trp
XM_024453099.1:c.27004C>T (TTN) XP_024308867.1:p.Arg9002Trp
XM_024453100.1:c.16858C>T (TTN) XP_024308868.1:p.Arg5620Trp