Canonical Allele Identifier: CA183496

Linked Data

ClinVar Variation Id: 179010
dbSNP Id: rs553668520

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178550195G>A , CM000664.2:g.178550195G>A GRCh38
NC_000002.11:g.179414922G>A , CM000664.1:g.179414922G>A GRCh37
NC_000002.10:g.179123168G>A NCBI36
NG_011618.3:g.285608C>T , LRG_391:g.285608C>T
NG_051363.1:g.32369G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83939C>T (TTN) ENSP00000343764.6:p.Ala27980Val
ENST00000342175.11:c.65024C>T (TTN) ENSP00000340554.6:p.Ala21675Val
ENST00000359218.10:c.64823C>T (TTN) ENSP00000352154.5:p.Ala21608Val
ENST00000342175.10:c.65024C>T (TTN) ENSP00000340554.6:p.Ala21675Val
ENST00000342992.10:c.83939C>T (TTN) ENSP00000343764.6:p.Ala27980Val
ENST00000359218.9:c.64823C>T (TTN) ENSP00000352154.5:p.Ala21608Val
ENST00000460472.6:c.64448C>T (TTN) ENSP00000434586.1:p.Ala21483Val
ENST00000589042.5:c.91643C>T (TTN) MANE Select ENSP00000467141.1:p.Ala30548Val
ENST00000591111.5:c.86720C>T (TTN) ENSP00000465570.1:p.Ala28907Val
ENST00000615779.4:c.86720C>T (TTN) ENSP00000483597.1:p.Ala28907Val
NM_001256850.1:c.86720C>T (TTN) NP_001243779.1:p.Ala28907Val
NM_001267550.2:c.91643C>T (TTN) MANE Select NP_001254479.2:p.Ala30548Val
NM_003319.4:c.64448C>T (TTN) NP_003310.4:p.Ala21483Val
NM_133378.4:c.83939C>T (TTN) NP_596869.4:p.Ala27980Val
NM_133432.3:c.64823C>T (TTN) NP_597676.3:p.Ala21608Val
NM_133437.4:c.65024C>T (TTN) NP_597681.4:p.Ala21675Val
NR_038271.1:n.447-21105G>A (TTN-AS1)
NR_038272.1:n.2043+7834G>A (TTN-AS1)
XM_011511729.1:c.90740C>T (TTN) XP_011510031.1:p.Ala30247Val
XM_011511730.1:c.64634C>T (TTN) XP_011510032.1:p.Ala21545Val
XM_011511731.1:c.64493C>T (TTN) XP_011510033.1:p.Ala21498Val
XM_017004819.1:c.90536C>T (TTN) XP_016860308.1:p.Ala30179Val
XM_017004820.1:c.85934C>T (TTN) XP_016860309.1:p.Ala28645Val
XM_017004821.1:c.85931C>T (TTN) XP_016860310.1:p.Ala28644Val
XM_017004822.1:c.82973C>T (TTN) XP_016860311.1:p.Ala27658Val
XM_017004823.1:c.64589C>T (TTN) XP_016860312.1:p.Ala21530Val
XM_024453094.1:c.86084C>T (TTN) XP_024308862.1:p.Ala28695Val
XM_024453095.1:c.86081C>T (TTN) XP_024308863.1:p.Ala28694Val
XM_024453096.1:c.85514C>T (TTN) XP_024308864.1:p.Ala28505Val
XM_024453097.1:c.82856C>T (TTN) XP_024308865.1:p.Ala27619Val
XM_024453098.1:c.82775C>T (TTN) XP_024308866.1:p.Ala27592Val
XM_024453099.1:c.64538C>T (TTN) XP_024308867.1:p.Ala21513Val
XM_024453100.1:c.54392C>T (TTN) XP_024308868.1:p.Ala18131Val