Canonical Allele Identifier: CA349398149

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527019G>T , CM000664.2:g.178527019G>T GRCh38
NC_000002.11:g.179391746G>T , CM000664.1:g.179391746G>T GRCh37
NC_000002.10:g.179099992G>T NCBI36
NG_011618.3:g.308784C>A , LRG_391:g.308784C>A
NG_051363.1:g.9193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100265C>A (TTN) ENSP00000343764.6:p.Ser33422Tyr
ENST00000342175.11:c.81350C>A (TTN) ENSP00000340554.6:p.Ser27117Tyr
ENST00000359218.10:c.81149C>A (TTN) ENSP00000352154.5:p.Ser27050Tyr
ENST00000342175.10:c.81350C>A (TTN) ENSP00000340554.6:p.Ser27117Tyr
ENST00000342992.10:c.100265C>A (TTN) ENSP00000343764.6:p.Ser33422Tyr
ENST00000359218.9:c.81149C>A (TTN) ENSP00000352154.5:p.Ser27050Tyr
ENST00000460472.6:c.80774C>A (TTN) ENSP00000434586.1:p.Ser26925Tyr
ENST00000589042.5:c.107969C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35990Tyr
ENST00000591111.5:c.103046C>A (TTN) ENSP00000465570.1:p.Ser34349Tyr
ENST00000615779.4:c.103046C>A (TTN) ENSP00000483597.1:p.Ser34349Tyr
NM_001256850.1:c.103046C>A (TTN) NP_001243779.1:p.Ser34349Tyr
NM_001267550.2:c.107969C>A (TTN) MANE Select NP_001254479.2:p.Ser35990Tyr
NM_003319.4:c.80774C>A (TTN) NP_003310.4:p.Ser26925Tyr
NM_133378.4:c.100265C>A (TTN) NP_596869.4:p.Ser33422Tyr
NM_133432.3:c.81149C>A (TTN) NP_597676.3:p.Ser27050Tyr
NM_133437.4:c.81350C>A (TTN) NP_597681.4:p.Ser27117Tyr
NR_038271.1:n.446+3383G>T (TTN-AS1)
NR_038272.1:n.219+3383G>T (TTN-AS1)
XM_011511729.1:c.107066C>A (TTN) XP_011510031.1:p.Ser35689Tyr
XM_011511730.1:c.80960C>A (TTN) XP_011510032.1:p.Ser26987Tyr
XM_011511731.1:c.80819C>A (TTN) XP_011510033.1:p.Ser26940Tyr
XM_017004819.1:c.106862C>A (TTN) XP_016860308.1:p.Ser35621Tyr
XM_017004820.1:c.102260C>A (TTN) XP_016860309.1:p.Ser34087Tyr
XM_017004821.1:c.102257C>A (TTN) XP_016860310.1:p.Ser34086Tyr
XM_017004822.1:c.99299C>A (TTN) XP_016860311.1:p.Ser33100Tyr
XM_017004823.1:c.80915C>A (TTN) XP_016860312.1:p.Ser26972Tyr
XM_024453094.1:c.102410C>A (TTN) XP_024308862.1:p.Ser34137Tyr
XM_024453095.1:c.102407C>A (TTN) XP_024308863.1:p.Ser34136Tyr
XM_024453096.1:c.101840C>A (TTN) XP_024308864.1:p.Ser33947Tyr
XM_024453097.1:c.99182C>A (TTN) XP_024308865.1:p.Ser33061Tyr
XM_024453098.1:c.99101C>A (TTN) XP_024308866.1:p.Ser33034Tyr
XM_024453099.1:c.80864C>A (TTN) XP_024308867.1:p.Ser26955Tyr
XM_024453100.1:c.70718C>A (TTN) XP_024308868.1:p.Ser23573Tyr