Canonical Allele Identifier: CA1310549417

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614552C= , CM000664.2:g.178614552C= GRCh38
NC_000002.11:g.179479279C= , CM000664.1:g.179479279C= GRCh37
NC_000002.10:g.179187524C= NCBI36
NG_011618.3:g.221251G= , LRG_391:g.221251G=
NG_051363.1:g.96726C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41258G= (TTN) ENSP00000343764.6:p.Ser13753=
ENST00000342175.11:c.22343G= (TTN) ENSP00000340554.6:p.Ser7448=
ENST00000359218.10:c.22142G= (TTN) ENSP00000352154.5:p.Ser7381=
ENST00000342175.10:c.22343G= (TTN) ENSP00000340554.6:p.Ser7448=
ENST00000342992.10:c.41258G= (TTN) ENSP00000343764.6:p.Ser13753=
ENST00000359218.9:c.22142G= (TTN) ENSP00000352154.5:p.Ser7381=
ENST00000460472.6:c.21767G= (TTN) ENSP00000434586.1:p.Ser7256=
ENST00000589042.5:c.48962G= (TTN) MANE Select ENSP00000467141.1:p.Ser16321=
ENST00000591111.5:c.44039G= (TTN) ENSP00000465570.1:p.Ser14680=
ENST00000615779.4:c.44039G= (TTN) ENSP00000483597.1:p.Ser14680=
NM_001256850.1:c.44039G= (TTN) NP_001243779.1:p.Ser14680=
NM_001267550.2:c.48962G= (TTN) MANE Select NP_001254479.2:p.Ser16321=
NM_003319.4:c.21767G= (TTN) NP_003310.4:p.Ser7256=
NM_133378.4:c.41258G= (TTN) NP_596869.4:p.Ser13753=
NM_133432.3:c.22142G= (TTN) NP_597676.3:p.Ser7381=
NM_133437.4:c.22343G= (TTN) NP_597681.4:p.Ser7448=
NR_038271.1:n.1300C= (TTN-AS1)
XM_011511729.1:c.48059G= (TTN) XP_011510031.1:p.Ser16020=
XM_011511730.1:c.21953G= (TTN) XP_011510032.1:p.Ser7318=
XM_011511731.1:c.21812G= (TTN) XP_011510033.1:p.Ser7271=
XM_017004819.1:c.47855G= (TTN) XP_016860308.1:p.Ser15952=
XM_017004820.1:c.43253G= (TTN) XP_016860309.1:p.Ser14418=
XM_017004821.1:c.43250G= (TTN) XP_016860310.1:p.Ser14417=
XM_017004822.1:c.40292G= (TTN) XP_016860311.1:p.Ser13431=
XM_017004823.1:c.21908G= (TTN) XP_016860312.1:p.Ser7303=
XM_024453094.1:c.43403G= (TTN) XP_024308862.1:p.Ser14468=
XM_024453095.1:c.43400G= (TTN) XP_024308863.1:p.Ser14467=
XM_024453096.1:c.42833G= (TTN) XP_024308864.1:p.Ser14278=
XM_024453097.1:c.40175G= (TTN) XP_024308865.1:p.Ser13392=
XM_024453098.1:c.40094G= (TTN) XP_024308866.1:p.Ser13365=
XM_024453099.1:c.21857G= (TTN) XP_024308867.1:p.Ser7286=
XM_024453100.1:c.11711G= (TTN) XP_024308868.1:p.Ser3904=