Canonical Allele Identifier: CA349472693

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546879C>A , CM000664.2:g.178546879C>A GRCh38
NC_000002.11:g.179411606C>A , CM000664.1:g.179411606C>A GRCh37
NC_000002.10:g.179119852C>A NCBI36
NG_011618.3:g.288924G>T , LRG_391:g.288924G>T
NG_051363.1:g.29053C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86845G>T (TTN) ENSP00000343764.6:p.Asp28949Tyr
ENST00000342175.11:c.67930G>T (TTN) ENSP00000340554.6:p.Asp22644Tyr
ENST00000359218.10:c.67729G>T (TTN) ENSP00000352154.5:p.Asp22577Tyr
ENST00000342175.10:c.67930G>T (TTN) ENSP00000340554.6:p.Asp22644Tyr
ENST00000342992.10:c.86845G>T (TTN) ENSP00000343764.6:p.Asp28949Tyr
ENST00000359218.9:c.67729G>T (TTN) ENSP00000352154.5:p.Asp22577Tyr
ENST00000460472.6:c.67354G>T (TTN) ENSP00000434586.1:p.Asp22452Tyr
ENST00000589042.5:c.94549G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31517Tyr
ENST00000591111.5:c.89626G>T (TTN) ENSP00000465570.1:p.Asp29876Tyr
ENST00000615779.4:c.89626G>T (TTN) ENSP00000483597.1:p.Asp29876Tyr
NM_001256850.1:c.89626G>T (TTN) NP_001243779.1:p.Asp29876Tyr
NM_001267550.2:c.94549G>T (TTN) MANE Select NP_001254479.2:p.Asp31517Tyr
NM_003319.4:c.67354G>T (TTN) NP_003310.4:p.Asp22452Tyr
NM_133378.4:c.86845G>T (TTN) NP_596869.4:p.Asp28949Tyr
NM_133432.3:c.67729G>T (TTN) NP_597676.3:p.Asp22577Tyr
NM_133437.4:c.67930G>T (TTN) NP_597681.4:p.Asp22644Tyr
NR_038271.1:n.446+23243C>A (TTN-AS1)
NR_038272.1:n.2043+4518C>A (TTN-AS1)
XM_011511729.1:c.93646G>T (TTN) XP_011510031.1:p.Asp31216Tyr
XM_011511730.1:c.67540G>T (TTN) XP_011510032.1:p.Asp22514Tyr
XM_011511731.1:c.67399G>T (TTN) XP_011510033.1:p.Asp22467Tyr
XM_017004819.1:c.93442G>T (TTN) XP_016860308.1:p.Asp31148Tyr
XM_017004820.1:c.88840G>T (TTN) XP_016860309.1:p.Asp29614Tyr
XM_017004821.1:c.88837G>T (TTN) XP_016860310.1:p.Asp29613Tyr
XM_017004822.1:c.85879G>T (TTN) XP_016860311.1:p.Asp28627Tyr
XM_017004823.1:c.67495G>T (TTN) XP_016860312.1:p.Asp22499Tyr
XM_024453094.1:c.88990G>T (TTN) XP_024308862.1:p.Asp29664Tyr
XM_024453095.1:c.88987G>T (TTN) XP_024308863.1:p.Asp29663Tyr
XM_024453096.1:c.88420G>T (TTN) XP_024308864.1:p.Asp29474Tyr
XM_024453097.1:c.85762G>T (TTN) XP_024308865.1:p.Asp28588Tyr
XM_024453098.1:c.85681G>T (TTN) XP_024308866.1:p.Asp28561Tyr
XM_024453099.1:c.67444G>T (TTN) XP_024308867.1:p.Asp22482Tyr
XM_024453100.1:c.57298G>T (TTN) XP_024308868.1:p.Asp19100Tyr