Canonical Allele Identifier: CA1991814

Linked Data

ClinVar Variation Id: 515425
dbSNP Id: rs776272431

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584682C>T , CM000664.2:g.178584682C>T GRCh38
NC_000002.11:g.179449409C>T , CM000664.1:g.179449409C>T GRCh37
NC_000002.10:g.179157655C>T NCBI36
NG_011618.3:g.251121G>A , LRG_391:g.251121G>A
NG_051363.1:g.66856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.57255G>A (TTN) ENSP00000343764.6:p.Ala19085=
ENST00000342175.11:c.38340G>A (TTN) ENSP00000340554.6:p.Ala12780=
ENST00000359218.10:c.38139G>A (TTN) ENSP00000352154.5:p.Ala12713=
ENST00000342175.10:c.38340G>A (TTN) ENSP00000340554.6:p.Ala12780=
ENST00000342992.10:c.57255G>A (TTN) ENSP00000343764.6:p.Ala19085=
ENST00000359218.9:c.38139G>A (TTN) ENSP00000352154.5:p.Ala12713=
ENST00000460472.6:c.37764G>A (TTN) ENSP00000434586.1:p.Ala12588=
ENST00000589042.5:c.64959G>A (TTN) MANE Select ENSP00000467141.1:p.Ala21653=
ENST00000591111.5:c.60036G>A (TTN) ENSP00000465570.1:p.Ala20012=
ENST00000615779.4:c.60036G>A (TTN) ENSP00000483597.1:p.Ala20012=
NM_001256850.1:c.60036G>A (TTN) NP_001243779.1:p.Ala20012=
NM_001267550.2:c.64959G>A (TTN) MANE Select NP_001254479.2:p.Ala21653=
NM_003319.4:c.37764G>A (TTN) NP_003310.4:p.Ala12588=
NM_133378.4:c.57255G>A (TTN) NP_596869.4:p.Ala19085=
NM_133432.3:c.38139G>A (TTN) NP_597676.3:p.Ala12713=
NM_133437.4:c.38340G>A (TTN) NP_597681.4:p.Ala12780=
NR_038271.1:n.597-12914C>T (TTN-AS1)
NR_038272.1:n.2877C>T (TTN-AS1)
XM_011511729.1:c.64056G>A (TTN) XP_011510031.1:p.Ala21352=
XM_011511730.1:c.37950G>A (TTN) XP_011510032.1:p.Ala12650=
XM_011511731.1:c.37809G>A (TTN) XP_011510033.1:p.Ala12603=
XM_017004819.1:c.63852G>A (TTN) XP_016860308.1:p.Ala21284=
XM_017004820.1:c.59250G>A (TTN) XP_016860309.1:p.Ala19750=
XM_017004821.1:c.59247G>A (TTN) XP_016860310.1:p.Ala19749=
XM_017004822.1:c.56289G>A (TTN) XP_016860311.1:p.Ala18763=
XM_017004823.1:c.37905G>A (TTN) XP_016860312.1:p.Ala12635=
XM_024453094.1:c.59400G>A (TTN) XP_024308862.1:p.Ala19800=
XM_024453095.1:c.59397G>A (TTN) XP_024308863.1:p.Ala19799=
XM_024453096.1:c.58830G>A (TTN) XP_024308864.1:p.Ala19610=
XM_024453097.1:c.56172G>A (TTN) XP_024308865.1:p.Ala18724=
XM_024453098.1:c.56091G>A (TTN) XP_024308866.1:p.Ala18697=
XM_024453099.1:c.37854G>A (TTN) XP_024308867.1:p.Ala12618=
XM_024453100.1:c.27708G>A (TTN) XP_024308868.1:p.Ala9236=