Canonical Allele Identifier: CA1986875

Linked Data

ClinVar Variation Id: 500813
dbSNP Id: rs375076970

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544424G>A , CM000664.2:g.178544424G>A GRCh38
NC_000002.11:g.179409151G>A , CM000664.1:g.179409151G>A GRCh37
NC_000002.10:g.179117397G>A NCBI36
NG_011618.3:g.291379C>T , LRG_391:g.291379C>T
NG_051363.1:g.26598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88101C>T (TTN) ENSP00000343764.6:p.Tyr29367=
ENST00000342175.11:c.69186C>T (TTN) ENSP00000340554.6:p.Tyr23062=
ENST00000359218.10:c.68985C>T (TTN) ENSP00000352154.5:p.Tyr22995=
ENST00000342175.10:c.69186C>T (TTN) ENSP00000340554.6:p.Tyr23062=
ENST00000342992.10:c.88101C>T (TTN) ENSP00000343764.6:p.Tyr29367=
ENST00000359218.9:c.68985C>T (TTN) ENSP00000352154.5:p.Tyr22995=
ENST00000460472.6:c.68610C>T (TTN) ENSP00000434586.1:p.Tyr22870=
ENST00000589042.5:c.95805C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr31935=
ENST00000591111.5:c.90882C>T (TTN) ENSP00000465570.1:p.Tyr30294=
ENST00000615779.4:c.90882C>T (TTN) ENSP00000483597.1:p.Tyr30294=
NM_001256850.1:c.90882C>T (TTN) NP_001243779.1:p.Tyr30294=
NM_001267550.2:c.95805C>T (TTN) MANE Select NP_001254479.2:p.Tyr31935=
NM_003319.4:c.68610C>T (TTN) NP_003310.4:p.Tyr22870=
NM_133378.4:c.88101C>T (TTN) NP_596869.4:p.Tyr29367=
NM_133432.3:c.68985C>T (TTN) NP_597676.3:p.Tyr22995=
NM_133437.4:c.69186C>T (TTN) NP_597681.4:p.Tyr23062=
NR_038271.1:n.446+20788G>A (TTN-AS1)
NR_038272.1:n.2043+2063G>A (TTN-AS1)
XM_011511729.1:c.94902C>T (TTN) XP_011510031.1:p.Tyr31634=
XM_011511730.1:c.68796C>T (TTN) XP_011510032.1:p.Tyr22932=
XM_011511731.1:c.68655C>T (TTN) XP_011510033.1:p.Tyr22885=
XM_017004819.1:c.94698C>T (TTN) XP_016860308.1:p.Tyr31566=
XM_017004820.1:c.90096C>T (TTN) XP_016860309.1:p.Tyr30032=
XM_017004821.1:c.90093C>T (TTN) XP_016860310.1:p.Tyr30031=
XM_017004822.1:c.87135C>T (TTN) XP_016860311.1:p.Tyr29045=
XM_017004823.1:c.68751C>T (TTN) XP_016860312.1:p.Tyr22917=
XM_024453094.1:c.90246C>T (TTN) XP_024308862.1:p.Tyr30082=
XM_024453095.1:c.90243C>T (TTN) XP_024308863.1:p.Tyr30081=
XM_024453096.1:c.89676C>T (TTN) XP_024308864.1:p.Tyr29892=
XM_024453097.1:c.87018C>T (TTN) XP_024308865.1:p.Tyr29006=
XM_024453098.1:c.86937C>T (TTN) XP_024308866.1:p.Tyr28979=
XM_024453099.1:c.68700C>T (TTN) XP_024308867.1:p.Tyr22900=
XM_024453100.1:c.58554C>T (TTN) XP_024308868.1:p.Tyr19518=