Canonical Allele Identifier: CA1310549412

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614543C= , CM000664.2:g.178614543C= GRCh38
NC_000002.11:g.179479270C= , CM000664.1:g.179479270C= GRCh37
NC_000002.10:g.179187515C= NCBI36
NG_011618.3:g.221260G= , LRG_391:g.221260G=
NG_051363.1:g.96717C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41267G= (TTN) ENSP00000343764.6:p.Ser13756=
ENST00000342175.11:c.22352G= (TTN) ENSP00000340554.6:p.Ser7451=
ENST00000359218.10:c.22151G= (TTN) ENSP00000352154.5:p.Ser7384=
ENST00000342175.10:c.22352G= (TTN) ENSP00000340554.6:p.Ser7451=
ENST00000342992.10:c.41267G= (TTN) ENSP00000343764.6:p.Ser13756=
ENST00000359218.9:c.22151G= (TTN) ENSP00000352154.5:p.Ser7384=
ENST00000460472.6:c.21776G= (TTN) ENSP00000434586.1:p.Ser7259=
ENST00000589042.5:c.48971G= (TTN) MANE Select ENSP00000467141.1:p.Ser16324=
ENST00000591111.5:c.44048G= (TTN) ENSP00000465570.1:p.Ser14683=
ENST00000615779.4:c.44048G= (TTN) ENSP00000483597.1:p.Ser14683=
NM_001256850.1:c.44048G= (TTN) NP_001243779.1:p.Ser14683=
NM_001267550.2:c.48971G= (TTN) MANE Select NP_001254479.2:p.Ser16324=
NM_003319.4:c.21776G= (TTN) NP_003310.4:p.Ser7259=
NM_133378.4:c.41267G= (TTN) NP_596869.4:p.Ser13756=
NM_133432.3:c.22151G= (TTN) NP_597676.3:p.Ser7384=
NM_133437.4:c.22352G= (TTN) NP_597681.4:p.Ser7451=
NR_038271.1:n.1291C= (TTN-AS1)
XM_011511729.1:c.48068G= (TTN) XP_011510031.1:p.Ser16023=
XM_011511730.1:c.21962G= (TTN) XP_011510032.1:p.Ser7321=
XM_011511731.1:c.21821G= (TTN) XP_011510033.1:p.Ser7274=
XM_017004819.1:c.47864G= (TTN) XP_016860308.1:p.Ser15955=
XM_017004820.1:c.43262G= (TTN) XP_016860309.1:p.Ser14421=
XM_017004821.1:c.43259G= (TTN) XP_016860310.1:p.Ser14420=
XM_017004822.1:c.40301G= (TTN) XP_016860311.1:p.Ser13434=
XM_017004823.1:c.21917G= (TTN) XP_016860312.1:p.Ser7306=
XM_024453094.1:c.43412G= (TTN) XP_024308862.1:p.Ser14471=
XM_024453095.1:c.43409G= (TTN) XP_024308863.1:p.Ser14470=
XM_024453096.1:c.42842G= (TTN) XP_024308864.1:p.Ser14281=
XM_024453097.1:c.40184G= (TTN) XP_024308865.1:p.Ser13395=
XM_024453098.1:c.40103G= (TTN) XP_024308866.1:p.Ser13368=
XM_024453099.1:c.21866G= (TTN) XP_024308867.1:p.Ser7289=
XM_024453100.1:c.11720G= (TTN) XP_024308868.1:p.Ser3907=