Canonical Allele Identifier: CA349581316

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564608C>A , CM000664.2:g.178564608C>A GRCh38
NC_000002.11:g.179429335C>A , CM000664.1:g.179429335C>A GRCh37
NC_000002.10:g.179137581C>A NCBI36
NG_011618.3:g.271195G>T , LRG_391:g.271195G>T
NG_051363.1:g.46782C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73820G>T (TTN) ENSP00000343764.6:p.Gly24607Val
ENST00000342175.11:c.54905G>T (TTN) ENSP00000340554.6:p.Gly18302Val
ENST00000359218.10:c.54704G>T (TTN) ENSP00000352154.5:p.Gly18235Val
ENST00000342175.10:c.54905G>T (TTN) ENSP00000340554.6:p.Gly18302Val
ENST00000342992.10:c.73820G>T (TTN) ENSP00000343764.6:p.Gly24607Val
ENST00000359218.9:c.54704G>T (TTN) ENSP00000352154.5:p.Gly18235Val
ENST00000460472.6:c.54329G>T (TTN) ENSP00000434586.1:p.Gly18110Val
ENST00000589042.5:c.81524G>T (TTN) MANE Select ENSP00000467141.1:p.Gly27175Val
ENST00000591111.5:c.76601G>T (TTN) ENSP00000465570.1:p.Gly25534Val
ENST00000615779.4:c.76601G>T (TTN) ENSP00000483597.1:p.Gly25534Val
NM_001256850.1:c.76601G>T (TTN) NP_001243779.1:p.Gly25534Val
NM_001267550.2:c.81524G>T (TTN) MANE Select NP_001254479.2:p.Gly27175Val
NM_003319.4:c.54329G>T (TTN) NP_003310.4:p.Gly18110Val
NM_133378.4:c.73820G>T (TTN) NP_596869.4:p.Gly24607Val
NM_133432.3:c.54704G>T (TTN) NP_597676.3:p.Gly18235Val
NM_133437.4:c.54905G>T (TTN) NP_597681.4:p.Gly18302Val
NR_038271.1:n.447-6692C>A (TTN-AS1)
NR_038272.1:n.2044-17964C>A (TTN-AS1)
XM_011511729.1:c.80621G>T (TTN) XP_011510031.1:p.Gly26874Val
XM_011511730.1:c.54515G>T (TTN) XP_011510032.1:p.Gly18172Val
XM_011511731.1:c.54374G>T (TTN) XP_011510033.1:p.Gly18125Val
XM_017004819.1:c.80417G>T (TTN) XP_016860308.1:p.Gly26806Val
XM_017004820.1:c.75815G>T (TTN) XP_016860309.1:p.Gly25272Val
XM_017004821.1:c.75812G>T (TTN) XP_016860310.1:p.Gly25271Val
XM_017004822.1:c.72854G>T (TTN) XP_016860311.1:p.Gly24285Val
XM_017004823.1:c.54470G>T (TTN) XP_016860312.1:p.Gly18157Val
XM_024453094.1:c.75965G>T (TTN) XP_024308862.1:p.Gly25322Val
XM_024453095.1:c.75962G>T (TTN) XP_024308863.1:p.Gly25321Val
XM_024453096.1:c.75395G>T (TTN) XP_024308864.1:p.Gly25132Val
XM_024453097.1:c.72737G>T (TTN) XP_024308865.1:p.Gly24246Val
XM_024453098.1:c.72656G>T (TTN) XP_024308866.1:p.Gly24219Val
XM_024453099.1:c.54419G>T (TTN) XP_024308867.1:p.Gly18140Val
XM_024453100.1:c.44273G>T (TTN) XP_024308868.1:p.Gly14758Val