Canonical Allele Identifier: CA349407222

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530603C>A , CM000664.2:g.178530603C>A GRCh38
NC_000002.11:g.179395330C>A , CM000664.1:g.179395330C>A GRCh37
NC_000002.10:g.179103576C>A NCBI36
NG_011618.3:g.305200G>T , LRG_391:g.305200G>T
NG_051363.1:g.12777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98308G>T (TTN) ENSP00000343764.6:p.Ala32770Ser
ENST00000342175.11:c.79393G>T (TTN) ENSP00000340554.6:p.Ala26465Ser
ENST00000359218.10:c.79192G>T (TTN) ENSP00000352154.5:p.Ala26398Ser
ENST00000342175.10:c.79393G>T (TTN) ENSP00000340554.6:p.Ala26465Ser
ENST00000342992.10:c.98308G>T (TTN) ENSP00000343764.6:p.Ala32770Ser
ENST00000359218.9:c.79192G>T (TTN) ENSP00000352154.5:p.Ala26398Ser
ENST00000460472.6:c.78817G>T (TTN) ENSP00000434586.1:p.Ala26273Ser
ENST00000589042.5:c.106012G>T (TTN) MANE Select ENSP00000467141.1:p.Ala35338Ser
ENST00000591111.5:c.101089G>T (TTN) ENSP00000465570.1:p.Ala33697Ser
ENST00000615779.4:c.101089G>T (TTN) ENSP00000483597.1:p.Ala33697Ser
NM_001256850.1:c.101089G>T (TTN) NP_001243779.1:p.Ala33697Ser
NM_001267550.2:c.106012G>T (TTN) MANE Select NP_001254479.2:p.Ala35338Ser
NM_003319.4:c.78817G>T (TTN) NP_003310.4:p.Ala26273Ser
NM_133378.4:c.98308G>T (TTN) NP_596869.4:p.Ala32770Ser
NM_133432.3:c.79192G>T (TTN) NP_597676.3:p.Ala26398Ser
NM_133437.4:c.79393G>T (TTN) NP_597681.4:p.Ala26465Ser
NR_038271.1:n.446+6967C>A (TTN-AS1)
NR_038272.1:n.220-5129C>A (TTN-AS1)
XM_011511729.1:c.105109G>T (TTN) XP_011510031.1:p.Ala35037Ser
XM_011511730.1:c.79003G>T (TTN) XP_011510032.1:p.Ala26335Ser
XM_011511731.1:c.78862G>T (TTN) XP_011510033.1:p.Ala26288Ser
XM_017004819.1:c.104905G>T (TTN) XP_016860308.1:p.Ala34969Ser
XM_017004820.1:c.100303G>T (TTN) XP_016860309.1:p.Ala33435Ser
XM_017004821.1:c.100300G>T (TTN) XP_016860310.1:p.Ala33434Ser
XM_017004822.1:c.97342G>T (TTN) XP_016860311.1:p.Ala32448Ser
XM_017004823.1:c.78958G>T (TTN) XP_016860312.1:p.Ala26320Ser
XM_024453094.1:c.100453G>T (TTN) XP_024308862.1:p.Ala33485Ser
XM_024453095.1:c.100450G>T (TTN) XP_024308863.1:p.Ala33484Ser
XM_024453096.1:c.99883G>T (TTN) XP_024308864.1:p.Ala33295Ser
XM_024453097.1:c.97225G>T (TTN) XP_024308865.1:p.Ala32409Ser
XM_024453098.1:c.97144G>T (TTN) XP_024308866.1:p.Ala32382Ser
XM_024453099.1:c.78907G>T (TTN) XP_024308867.1:p.Ala26303Ser
XM_024453100.1:c.68761G>T (TTN) XP_024308868.1:p.Ala22921Ser