Canonical Allele Identifier: CA1990401

Linked Data

ClinVar Variation Id: 263624
dbSNP Id: rs371034493

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572908C>T , CM000664.2:g.178572908C>T GRCh38
NC_000002.11:g.179437635C>T , CM000664.1:g.179437635C>T GRCh37
NC_000002.10:g.179145881C>T NCBI36
NG_011618.3:g.262895G>A , LRG_391:g.262895G>A
NG_051363.1:g.55082C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.65520G>A (TTN) ENSP00000343764.6:p.Gly21840=
ENST00000342175.11:c.46605G>A (TTN) ENSP00000340554.6:p.Gly15535=
ENST00000359218.10:c.46404G>A (TTN) ENSP00000352154.5:p.Gly15468=
ENST00000342175.10:c.46605G>A (TTN) ENSP00000340554.6:p.Gly15535=
ENST00000342992.10:c.65520G>A (TTN) ENSP00000343764.6:p.Gly21840=
ENST00000359218.9:c.46404G>A (TTN) ENSP00000352154.5:p.Gly15468=
ENST00000460472.6:c.46029G>A (TTN) ENSP00000434586.1:p.Gly15343=
ENST00000589042.5:c.73224G>A (TTN) MANE Select ENSP00000467141.1:p.Gly24408=
ENST00000591111.5:c.68301G>A (TTN) ENSP00000465570.1:p.Gly22767=
ENST00000615779.4:c.68301G>A (TTN) ENSP00000483597.1:p.Gly22767=
NM_001256850.1:c.68301G>A (TTN) NP_001243779.1:p.Gly22767=
NM_001267550.2:c.73224G>A (TTN) MANE Select NP_001254479.2:p.Gly24408=
NM_003319.4:c.46029G>A (TTN) NP_003310.4:p.Gly15343=
NM_133378.4:c.65520G>A (TTN) NP_596869.4:p.Gly21840=
NM_133432.3:c.46404G>A (TTN) NP_597676.3:p.Gly15468=
NM_133437.4:c.46605G>A (TTN) NP_597681.4:p.Gly15535=
NR_038271.1:n.596+1459C>T (TTN-AS1)
NR_038272.1:n.2044-9664C>T (TTN-AS1)
XM_011511729.1:c.72321G>A (TTN) XP_011510031.1:p.Gly24107=
XM_011511730.1:c.46215G>A (TTN) XP_011510032.1:p.Gly15405=
XM_011511731.1:c.46074G>A (TTN) XP_011510033.1:p.Gly15358=
XM_017004819.1:c.72117G>A (TTN) XP_016860308.1:p.Gly24039=
XM_017004820.1:c.67515G>A (TTN) XP_016860309.1:p.Gly22505=
XM_017004821.1:c.67512G>A (TTN) XP_016860310.1:p.Gly22504=
XM_017004822.1:c.64554G>A (TTN) XP_016860311.1:p.Gly21518=
XM_017004823.1:c.46170G>A (TTN) XP_016860312.1:p.Gly15390=
XM_024453094.1:c.67665G>A (TTN) XP_024308862.1:p.Gly22555=
XM_024453095.1:c.67662G>A (TTN) XP_024308863.1:p.Gly22554=
XM_024453096.1:c.67095G>A (TTN) XP_024308864.1:p.Gly22365=
XM_024453097.1:c.64437G>A (TTN) XP_024308865.1:p.Gly21479=
XM_024453098.1:c.64356G>A (TTN) XP_024308866.1:p.Gly21452=
XM_024453099.1:c.46119G>A (TTN) XP_024308867.1:p.Gly15373=
XM_024453100.1:c.35973G>A (TTN) XP_024308868.1:p.Gly11991=