Canonical Allele Identifier: CA3097384553
Community Standard Title: NM_001267550.2(TTN):c.48872C= (p.Thr16291=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614642G= , CM000664.2:g.178614642G= GRCh38
NC_000002.11:g.179479369G= , CM000664.1:g.179479369G= GRCh37
NC_000002.10:g.179187614G= NCBI36
NG_011618.3:g.221161C= , LRG_391:g.221161C=
NG_051363.1:g.96816G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48872C= (TTN) MANE Select NP_001254479.2:p.Thr16291=
ENST00000589042.5:c.48872C= (TTN) MANE Select ENSP00000467141.1:p.Thr16291=
NM_001256850.1:c.43949C= (TTN) NP_001243779.1:p.Thr14650=
NM_003319.4:c.21677C= (TTN) NP_003310.4:p.Thr7226=
NM_133378.4:c.41168C= (TTN) NP_596869.4:p.Thr13723=
NM_133432.3:c.22052C= (TTN) NP_597676.3:p.Thr7351=
NM_133437.4:c.22253C= (TTN) NP_597681.4:p.Thr7418=
NR_038271.1:n.1390G= (TTN-AS1)
ENST00000342175.10:c.22253C= (TTN) ENSP00000340554.6:p.Thr7418=
ENST00000342175.11:c.22253C= (TTN) ENSP00000340554.6:p.Thr7418=
ENST00000342992.10:c.41168C= (TTN) ENSP00000343764.6:p.Thr13723=
ENST00000342992.11:c.41168C= (TTN) ENSP00000343764.6:p.Thr13723=
ENST00000359218.10:c.22052C= (TTN) ENSP00000352154.5:p.Thr7351=
ENST00000359218.9:c.22052C= (TTN) ENSP00000352154.5:p.Thr7351=
ENST00000460472.6:c.21677C= (TTN) ENSP00000434586.1:p.Thr7226=
ENST00000591111.5:c.43949C= (TTN) ENSP00000465570.1:p.Thr14650=
ENST00000615779.4:c.43949C= (TTN) ENSP00000483597.1:p.Thr14650=
XM_011511729.1:c.47969C= (TTN) XP_011510031.1:p.Thr15990=
XM_011511730.1:c.21863C= (TTN) XP_011510032.1:p.Thr7288=
XM_011511731.1:c.21722C= (TTN) XP_011510033.1:p.Thr7241=
XM_017004819.1:c.47765C= (TTN) XP_016860308.1:p.Thr15922=
XM_017004820.1:c.43163C= (TTN) XP_016860309.1:p.Thr14388=
XM_017004821.1:c.43160C= (TTN) XP_016860310.1:p.Thr14387=
XM_017004822.1:c.40202C= (TTN) XP_016860311.1:p.Thr13401=
XM_017004823.1:c.21818C= (TTN) XP_016860312.1:p.Thr7273=
XM_024453094.1:c.43313C= (TTN) XP_024308862.1:p.Thr14438=
XM_024453095.1:c.43310C= (TTN) XP_024308863.1:p.Thr14437=
XM_024453096.1:c.42743C= (TTN) XP_024308864.1:p.Thr14248=
XM_024453097.1:c.40085C= (TTN) XP_024308865.1:p.Thr13362=
XM_024453098.1:c.40004C= (TTN) XP_024308866.1:p.Thr13335=
XM_024453099.1:c.21767C= (TTN) XP_024308867.1:p.Thr7256=
XM_024453100.1:c.11621C= (TTN) XP_024308868.1:p.Thr3874=