Canonical Allele Identifier: CA3097384586
Community Standard Title: NM_001267550.2(TTN):c.48866A= (p.Lys16289=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614648T= , CM000664.2:g.178614648T= GRCh38
NC_000002.11:g.179479375T= , CM000664.1:g.179479375T= GRCh37
NC_000002.10:g.179187620T= NCBI36
NG_011618.3:g.221155A= , LRG_391:g.221155A=
NG_051363.1:g.96822T=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48866A= (TTN) MANE Select NP_001254479.2:p.Lys16289=
ENST00000589042.5:c.48866A= (TTN) MANE Select ENSP00000467141.1:p.Lys16289=
NM_001256850.1:c.43943A= (TTN) NP_001243779.1:p.Lys14648=
NM_003319.4:c.21671A= (TTN) NP_003310.4:p.Lys7224=
NM_133378.4:c.41162A= (TTN) NP_596869.4:p.Lys13721=
NM_133432.3:c.22046A= (TTN) NP_597676.3:p.Lys7349=
NM_133437.4:c.22247A= (TTN) NP_597681.4:p.Lys7416=
NR_038271.1:n.1396T= (TTN-AS1)
ENST00000342175.10:c.22247A= (TTN) ENSP00000340554.6:p.Lys7416=
ENST00000342175.11:c.22247A= (TTN) ENSP00000340554.6:p.Lys7416=
ENST00000342992.10:c.41162A= (TTN) ENSP00000343764.6:p.Lys13721=
ENST00000342992.11:c.41162A= (TTN) ENSP00000343764.6:p.Lys13721=
ENST00000359218.10:c.22046A= (TTN) ENSP00000352154.5:p.Lys7349=
ENST00000359218.9:c.22046A= (TTN) ENSP00000352154.5:p.Lys7349=
ENST00000460472.6:c.21671A= (TTN) ENSP00000434586.1:p.Lys7224=
ENST00000591111.5:c.43943A= (TTN) ENSP00000465570.1:p.Lys14648=
ENST00000615779.4:c.43943A= (TTN) ENSP00000483597.1:p.Lys14648=
XM_011511729.1:c.47963A= (TTN) XP_011510031.1:p.Lys15988=
XM_011511730.1:c.21857A= (TTN) XP_011510032.1:p.Lys7286=
XM_011511731.1:c.21716A= (TTN) XP_011510033.1:p.Lys7239=
XM_017004819.1:c.47759A= (TTN) XP_016860308.1:p.Lys15920=
XM_017004820.1:c.43157A= (TTN) XP_016860309.1:p.Lys14386=
XM_017004821.1:c.43154A= (TTN) XP_016860310.1:p.Lys14385=
XM_017004822.1:c.40196A= (TTN) XP_016860311.1:p.Lys13399=
XM_017004823.1:c.21812A= (TTN) XP_016860312.1:p.Lys7271=
XM_024453094.1:c.43307A= (TTN) XP_024308862.1:p.Lys14436=
XM_024453095.1:c.43304A= (TTN) XP_024308863.1:p.Lys14435=
XM_024453096.1:c.42737A= (TTN) XP_024308864.1:p.Lys14246=
XM_024453097.1:c.40079A= (TTN) XP_024308865.1:p.Lys13360=
XM_024453098.1:c.39998A= (TTN) XP_024308866.1:p.Lys13333=
XM_024453099.1:c.21761A= (TTN) XP_024308867.1:p.Lys7254=
XM_024453100.1:c.11615A= (TTN) XP_024308868.1:p.Lys3872=