Canonical Allele Identifier: CA10613032

Linked Data

ClinVar Variation Id: 332728
dbSNP Id: rs771773845

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549172G>A , CM000664.2:g.178549172G>A GRCh38
NC_000002.11:g.179413899G>A , CM000664.1:g.179413899G>A GRCh37
NC_000002.10:g.179122145G>A NCBI36
NG_011618.3:g.286631C>T , LRG_391:g.286631C>T
NG_051363.1:g.31346G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84750C>T (TTN) ENSP00000343764.6:p.Pro28250=
ENST00000342175.11:c.65835C>T (TTN) ENSP00000340554.6:p.Pro21945=
ENST00000359218.10:c.65634C>T (TTN) ENSP00000352154.5:p.Pro21878=
ENST00000342175.10:c.65835C>T (TTN) ENSP00000340554.6:p.Pro21945=
ENST00000342992.10:c.84750C>T (TTN) ENSP00000343764.6:p.Pro28250=
ENST00000359218.9:c.65634C>T (TTN) ENSP00000352154.5:p.Pro21878=
ENST00000460472.6:c.65259C>T (TTN) ENSP00000434586.1:p.Pro21753=
ENST00000589042.5:c.92454C>T (TTN) MANE Select ENSP00000467141.1:p.Pro30818=
ENST00000591111.5:c.87531C>T (TTN) ENSP00000465570.1:p.Pro29177=
ENST00000615779.4:c.87531C>T (TTN) ENSP00000483597.1:p.Pro29177=
NM_001256850.1:c.87531C>T (TTN) NP_001243779.1:p.Pro29177=
NM_001267550.2:c.92454C>T (TTN) MANE Select NP_001254479.2:p.Pro30818=
NM_003319.4:c.65259C>T (TTN) NP_003310.4:p.Pro21753=
NM_133378.4:c.84750C>T (TTN) NP_596869.4:p.Pro28250=
NM_133432.3:c.65634C>T (TTN) NP_597676.3:p.Pro21878=
NM_133437.4:c.65835C>T (TTN) NP_597681.4:p.Pro21945=
NR_038271.1:n.447-22128G>A (TTN-AS1)
NR_038272.1:n.2043+6811G>A (TTN-AS1)
XM_011511729.1:c.91551C>T (TTN) XP_011510031.1:p.Pro30517=
XM_011511730.1:c.65445C>T (TTN) XP_011510032.1:p.Pro21815=
XM_011511731.1:c.65304C>T (TTN) XP_011510033.1:p.Pro21768=
XM_017004819.1:c.91347C>T (TTN) XP_016860308.1:p.Pro30449=
XM_017004820.1:c.86745C>T (TTN) XP_016860309.1:p.Pro28915=
XM_017004821.1:c.86742C>T (TTN) XP_016860310.1:p.Pro28914=
XM_017004822.1:c.83784C>T (TTN) XP_016860311.1:p.Pro27928=
XM_017004823.1:c.65400C>T (TTN) XP_016860312.1:p.Pro21800=
XM_024453094.1:c.86895C>T (TTN) XP_024308862.1:p.Pro28965=
XM_024453095.1:c.86892C>T (TTN) XP_024308863.1:p.Pro28964=
XM_024453096.1:c.86325C>T (TTN) XP_024308864.1:p.Pro28775=
XM_024453097.1:c.83667C>T (TTN) XP_024308865.1:p.Pro27889=
XM_024453098.1:c.83586C>T (TTN) XP_024308866.1:p.Pro27862=
XM_024453099.1:c.65349C>T (TTN) XP_024308867.1:p.Pro21783=
XM_024453100.1:c.55203C>T (TTN) XP_024308868.1:p.Pro18401=