Canonical Allele Identifier: CA16617352

Linked Data

ClinVar Variation Id: 421131
ClinVar RCV Id: RCV000480801
dbSNP Id: rs1064794930

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178571051C>T , CM000664.2:g.178571051C>T GRCh38
NC_000002.11:g.179435778C>T , CM000664.1:g.179435778C>T GRCh37
NC_000002.10:g.179144024C>T NCBI36
NG_011618.3:g.264752G>A , LRG_391:g.264752G>A
NG_051363.1:g.53225C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67377G>A (TTN) ENSP00000343764.6:p.Trp22459Ter
ENST00000342175.11:c.48462G>A (TTN) ENSP00000340554.6:p.Trp16154Ter
ENST00000359218.10:c.48261G>A (TTN) ENSP00000352154.5:p.Trp16087Ter
ENST00000342175.10:c.48462G>A (TTN) ENSP00000340554.6:p.Trp16154Ter
ENST00000342992.10:c.67377G>A (TTN) ENSP00000343764.6:p.Trp22459Ter
ENST00000359218.9:c.48261G>A (TTN) ENSP00000352154.5:p.Trp16087Ter
ENST00000460472.6:c.47886G>A (TTN) ENSP00000434586.1:p.Trp15962Ter
ENST00000589042.5:c.75081G>A (TTN) MANE Select ENSP00000467141.1:p.Trp25027Ter
ENST00000591111.5:c.70158G>A (TTN) ENSP00000465570.1:p.Trp23386Ter
ENST00000615779.4:c.70158G>A (TTN) ENSP00000483597.1:p.Trp23386Ter
NM_001256850.1:c.70158G>A (TTN) NP_001243779.1:p.Trp23386Ter
NM_001267550.2:c.75081G>A (TTN) MANE Select NP_001254479.2:p.Trp25027Ter
NM_003319.4:c.47886G>A (TTN) NP_003310.4:p.Trp15962Ter
NM_133378.4:c.67377G>A (TTN) NP_596869.4:p.Trp22459Ter
NM_133432.3:c.48261G>A (TTN) NP_597676.3:p.Trp16087Ter
NM_133437.4:c.48462G>A (TTN) NP_597681.4:p.Trp16154Ter
NR_038271.1:n.447-249C>T (TTN-AS1)
NR_038272.1:n.2044-11521C>T (TTN-AS1)
XM_011511729.1:c.74178G>A (TTN) XP_011510031.1:p.Trp24726Ter
XM_011511730.1:c.48072G>A (TTN) XP_011510032.1:p.Trp16024Ter
XM_011511731.1:c.47931G>A (TTN) XP_011510033.1:p.Trp15977Ter
XM_017004819.1:c.73974G>A (TTN) XP_016860308.1:p.Trp24658Ter
XM_017004820.1:c.69372G>A (TTN) XP_016860309.1:p.Trp23124Ter
XM_017004821.1:c.69369G>A (TTN) XP_016860310.1:p.Trp23123Ter
XM_017004822.1:c.66411G>A (TTN) XP_016860311.1:p.Trp22137Ter
XM_017004823.1:c.48027G>A (TTN) XP_016860312.1:p.Trp16009Ter
XM_024453094.1:c.69522G>A (TTN) XP_024308862.1:p.Trp23174Ter
XM_024453095.1:c.69519G>A (TTN) XP_024308863.1:p.Trp23173Ter
XM_024453096.1:c.68952G>A (TTN) XP_024308864.1:p.Trp22984Ter
XM_024453097.1:c.66294G>A (TTN) XP_024308865.1:p.Trp22098Ter
XM_024453098.1:c.66213G>A (TTN) XP_024308866.1:p.Trp22071Ter
XM_024453099.1:c.47976G>A (TTN) XP_024308867.1:p.Trp15992Ter
XM_024453100.1:c.37830G>A (TTN) XP_024308868.1:p.Trp12610Ter