Canonical Allele Identifier: CA60956182

Linked Data

dbSNP Id: rs199661082

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532125G>A , CM000664.2:g.178532125G>A GRCh38
NC_000002.11:g.179396852G>A , CM000664.1:g.179396852G>A GRCh37
NC_000002.10:g.179105098G>A NCBI36
NG_011618.3:g.303678C>T , LRG_391:g.303678C>T
NG_051363.1:g.14299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96786C>T (TTN) ENSP00000343764.6:p.Ser32262=
ENST00000342175.11:c.77871C>T (TTN) ENSP00000340554.6:p.Ser25957=
ENST00000359218.10:c.77670C>T (TTN) ENSP00000352154.5:p.Ser25890=
ENST00000342175.10:c.77871C>T (TTN) ENSP00000340554.6:p.Ser25957=
ENST00000342992.10:c.96786C>T (TTN) ENSP00000343764.6:p.Ser32262=
ENST00000359218.9:c.77670C>T (TTN) ENSP00000352154.5:p.Ser25890=
ENST00000460472.6:c.77295C>T (TTN) ENSP00000434586.1:p.Ser25765=
ENST00000589042.5:c.104490C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34830=
ENST00000591111.5:c.99567C>T (TTN) ENSP00000465570.1:p.Ser33189=
ENST00000615779.4:c.99567C>T (TTN) ENSP00000483597.1:p.Ser33189=
NM_001256850.1:c.99567C>T (TTN) NP_001243779.1:p.Ser33189=
NM_001267550.2:c.104490C>T (TTN) MANE Select NP_001254479.2:p.Ser34830=
NM_003319.4:c.77295C>T (TTN) NP_003310.4:p.Ser25765=
NM_133378.4:c.96786C>T (TTN) NP_596869.4:p.Ser32262=
NM_133432.3:c.77670C>T (TTN) NP_597676.3:p.Ser25890=
NM_133437.4:c.77871C>T (TTN) NP_597681.4:p.Ser25957=
NR_038271.1:n.446+8489G>A (TTN-AS1)
NR_038272.1:n.220-3607G>A (TTN-AS1)
XM_011511729.1:c.103587C>T (TTN) XP_011510031.1:p.Ser34529=
XM_011511730.1:c.77481C>T (TTN) XP_011510032.1:p.Ser25827=
XM_011511731.1:c.77340C>T (TTN) XP_011510033.1:p.Ser25780=
XM_017004819.1:c.103383C>T (TTN) XP_016860308.1:p.Ser34461=
XM_017004820.1:c.98781C>T (TTN) XP_016860309.1:p.Ser32927=
XM_017004821.1:c.98778C>T (TTN) XP_016860310.1:p.Ser32926=
XM_017004822.1:c.95820C>T (TTN) XP_016860311.1:p.Ser31940=
XM_017004823.1:c.77436C>T (TTN) XP_016860312.1:p.Ser25812=
XM_024453094.1:c.98931C>T (TTN) XP_024308862.1:p.Ser32977=
XM_024453095.1:c.98928C>T (TTN) XP_024308863.1:p.Ser32976=
XM_024453096.1:c.98361C>T (TTN) XP_024308864.1:p.Ser32787=
XM_024453097.1:c.95703C>T (TTN) XP_024308865.1:p.Ser31901=
XM_024453098.1:c.95622C>T (TTN) XP_024308866.1:p.Ser31874=
XM_024453099.1:c.77385C>T (TTN) XP_024308867.1:p.Ser25795=
XM_024453100.1:c.67239C>T (TTN) XP_024308868.1:p.Ser22413=