Canonical Allele Identifier: CA242271

Linked Data

ClinVar Variation Id: 195717
dbSNP Id: rs761146363

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605123C>T , CM000664.2:g.178605123C>T GRCh38
NC_000002.11:g.179469850C>T , CM000664.1:g.179469850C>T GRCh37
NC_000002.10:g.179178095C>T NCBI36
NG_011618.3:g.230680G>A , LRG_391:g.230680G>A
NG_051363.1:g.87297C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.46350G>A (TTN) ENSP00000343764.6:p.Lys15450=
ENST00000342175.11:c.27435G>A (TTN) ENSP00000340554.6:p.Lys9145=
ENST00000359218.10:c.27234G>A (TTN) ENSP00000352154.5:p.Lys9078=
ENST00000342175.10:c.27435G>A (TTN) ENSP00000340554.6:p.Lys9145=
ENST00000342992.10:c.46350G>A (TTN) ENSP00000343764.6:p.Lys15450=
ENST00000359218.9:c.27234G>A (TTN) ENSP00000352154.5:p.Lys9078=
ENST00000460472.6:c.26859G>A (TTN) ENSP00000434586.1:p.Lys8953=
ENST00000589042.5:c.54054G>A (TTN) MANE Select ENSP00000467141.1:p.Lys18018=
ENST00000591111.5:c.49131G>A (TTN) ENSP00000465570.1:p.Lys16377=
ENST00000615779.4:c.49131G>A (TTN) ENSP00000483597.1:p.Lys16377=
NM_001256850.1:c.49131G>A (TTN) NP_001243779.1:p.Lys16377=
NM_001267550.2:c.54054G>A (TTN) MANE Select NP_001254479.2:p.Lys18018=
NM_003319.4:c.26859G>A (TTN) NP_003310.4:p.Lys8953=
NM_133378.4:c.46350G>A (TTN) NP_596869.4:p.Lys15450=
NM_133432.3:c.27234G>A (TTN) NP_597676.3:p.Lys9078=
NM_133437.4:c.27435G>A (TTN) NP_597681.4:p.Lys9145=
NR_038271.1:n.683-3044C>T (TTN-AS1)
NR_038272.1:n.4310C>T (TTN-AS1)
XM_011511729.1:c.53151G>A (TTN) XP_011510031.1:p.Lys17717=
XM_011511730.1:c.27045G>A (TTN) XP_011510032.1:p.Lys9015=
XM_011511731.1:c.26904G>A (TTN) XP_011510033.1:p.Lys8968=
XM_017004819.1:c.52947G>A (TTN) XP_016860308.1:p.Lys17649=
XM_017004820.1:c.48345G>A (TTN) XP_016860309.1:p.Lys16115=
XM_017004821.1:c.48342G>A (TTN) XP_016860310.1:p.Lys16114=
XM_017004822.1:c.45384G>A (TTN) XP_016860311.1:p.Lys15128=
XM_017004823.1:c.27000G>A (TTN) XP_016860312.1:p.Lys9000=
XM_024453094.1:c.48495G>A (TTN) XP_024308862.1:p.Lys16165=
XM_024453095.1:c.48492G>A (TTN) XP_024308863.1:p.Lys16164=
XM_024453096.1:c.47925G>A (TTN) XP_024308864.1:p.Lys15975=
XM_024453097.1:c.45267G>A (TTN) XP_024308865.1:p.Lys15089=
XM_024453098.1:c.45186G>A (TTN) XP_024308866.1:p.Lys15062=
XM_024453099.1:c.26949G>A (TTN) XP_024308867.1:p.Lys8983=
XM_024453100.1:c.16803G>A (TTN) XP_024308868.1:p.Lys5601=