Canonical Allele Identifier: CA349618685

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618198T>A , CM000664.2:g.178618198T>A GRCh38
NC_000002.11:g.179482925T>A , CM000664.1:g.179482925T>A GRCh37
NC_000002.10:g.179191170T>A NCBI36
NG_011618.3:g.217605A>T , LRG_391:g.217605A>T
NG_051363.1:g.100372T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39556A>T (TTN) ENSP00000343764.6:p.Ser13186Cys
ENST00000342175.11:c.20641A>T (TTN) ENSP00000340554.6:p.Ser6881Cys
ENST00000359218.10:c.20440A>T (TTN) ENSP00000352154.5:p.Ser6814Cys
ENST00000342175.10:c.20641A>T (TTN) ENSP00000340554.6:p.Ser6881Cys
ENST00000342992.10:c.39556A>T (TTN) ENSP00000343764.6:p.Ser13186Cys
ENST00000359218.9:c.20440A>T (TTN) ENSP00000352154.5:p.Ser6814Cys
ENST00000460472.6:c.20065A>T (TTN) ENSP00000434586.1:p.Ser6689Cys
ENST00000589042.5:c.47260A>T (TTN) MANE Select ENSP00000467141.1:p.Ser15754Cys
ENST00000591111.5:c.42337A>T (TTN) ENSP00000465570.1:p.Ser14113Cys
ENST00000615779.4:c.42337A>T (TTN) ENSP00000483597.1:p.Ser14113Cys
NM_001256850.1:c.42337A>T (TTN) NP_001243779.1:p.Ser14113Cys
NM_001267550.2:c.47260A>T (TTN) MANE Select NP_001254479.2:p.Ser15754Cys
NM_003319.4:c.20065A>T (TTN) NP_003310.4:p.Ser6689Cys
NM_133378.4:c.39556A>T (TTN) NP_596869.4:p.Ser13186Cys
NM_133432.3:c.20440A>T (TTN) NP_597676.3:p.Ser6814Cys
NM_133437.4:c.20641A>T (TTN) NP_597681.4:p.Ser6881Cys
NR_038271.1:n.1605-1555T>A (TTN-AS1)
XM_011511729.1:c.46357A>T (TTN) XP_011510031.1:p.Ser15453Cys
XM_011511730.1:c.20251A>T (TTN) XP_011510032.1:p.Ser6751Cys
XM_011511731.1:c.20110A>T (TTN) XP_011510033.1:p.Ser6704Cys
XM_017004819.1:c.46153A>T (TTN) XP_016860308.1:p.Ser15385Cys
XM_017004820.1:c.41551A>T (TTN) XP_016860309.1:p.Ser13851Cys
XM_017004821.1:c.41548A>T (TTN) XP_016860310.1:p.Ser13850Cys
XM_017004822.1:c.38590A>T (TTN) XP_016860311.1:p.Ser12864Cys
XM_017004823.1:c.20206A>T (TTN) XP_016860312.1:p.Ser6736Cys
XM_024453094.1:c.41701A>T (TTN) XP_024308862.1:p.Ser13901Cys
XM_024453095.1:c.41698A>T (TTN) XP_024308863.1:p.Ser13900Cys
XM_024453096.1:c.41131A>T (TTN) XP_024308864.1:p.Ser13711Cys
XM_024453097.1:c.38473A>T (TTN) XP_024308865.1:p.Ser12825Cys
XM_024453098.1:c.38392A>T (TTN) XP_024308866.1:p.Ser12798Cys
XM_024453099.1:c.20155A>T (TTN) XP_024308867.1:p.Ser6719Cys
XM_024453100.1:c.10009A>T (TTN) XP_024308868.1:p.Ser3337Cys