Canonical Allele Identifier: CA349618709

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618201T>A , CM000664.2:g.178618201T>A GRCh38
NC_000002.11:g.179482928T>A , CM000664.1:g.179482928T>A GRCh37
NC_000002.10:g.179191173T>A NCBI36
NG_011618.3:g.217602A>T , LRG_391:g.217602A>T
NG_051363.1:g.100375T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39553A>T (TTN) ENSP00000343764.6:p.Arg13185Trp
ENST00000342175.11:c.20638A>T (TTN) ENSP00000340554.6:p.Arg6880Trp
ENST00000359218.10:c.20437A>T (TTN) ENSP00000352154.5:p.Arg6813Trp
ENST00000342175.10:c.20638A>T (TTN) ENSP00000340554.6:p.Arg6880Trp
ENST00000342992.10:c.39553A>T (TTN) ENSP00000343764.6:p.Arg13185Trp
ENST00000359218.9:c.20437A>T (TTN) ENSP00000352154.5:p.Arg6813Trp
ENST00000460472.6:c.20062A>T (TTN) ENSP00000434586.1:p.Arg6688Trp
ENST00000589042.5:c.47257A>T (TTN) MANE Select ENSP00000467141.1:p.Arg15753Trp
ENST00000591111.5:c.42334A>T (TTN) ENSP00000465570.1:p.Arg14112Trp
ENST00000615779.4:c.42334A>T (TTN) ENSP00000483597.1:p.Arg14112Trp
NM_001256850.1:c.42334A>T (TTN) NP_001243779.1:p.Arg14112Trp
NM_001267550.2:c.47257A>T (TTN) MANE Select NP_001254479.2:p.Arg15753Trp
NM_003319.4:c.20062A>T (TTN) NP_003310.4:p.Arg6688Trp
NM_133378.4:c.39553A>T (TTN) NP_596869.4:p.Arg13185Trp
NM_133432.3:c.20437A>T (TTN) NP_597676.3:p.Arg6813Trp
NM_133437.4:c.20638A>T (TTN) NP_597681.4:p.Arg6880Trp
NR_038271.1:n.1605-1552T>A (TTN-AS1)
XM_011511729.1:c.46354A>T (TTN) XP_011510031.1:p.Arg15452Trp
XM_011511730.1:c.20248A>T (TTN) XP_011510032.1:p.Arg6750Trp
XM_011511731.1:c.20107A>T (TTN) XP_011510033.1:p.Arg6703Trp
XM_017004819.1:c.46150A>T (TTN) XP_016860308.1:p.Arg15384Trp
XM_017004820.1:c.41548A>T (TTN) XP_016860309.1:p.Arg13850Trp
XM_017004821.1:c.41545A>T (TTN) XP_016860310.1:p.Arg13849Trp
XM_017004822.1:c.38587A>T (TTN) XP_016860311.1:p.Arg12863Trp
XM_017004823.1:c.20203A>T (TTN) XP_016860312.1:p.Arg6735Trp
XM_024453094.1:c.41698A>T (TTN) XP_024308862.1:p.Arg13900Trp
XM_024453095.1:c.41695A>T (TTN) XP_024308863.1:p.Arg13899Trp
XM_024453096.1:c.41128A>T (TTN) XP_024308864.1:p.Arg13710Trp
XM_024453097.1:c.38470A>T (TTN) XP_024308865.1:p.Arg12824Trp
XM_024453098.1:c.38389A>T (TTN) XP_024308866.1:p.Arg12797Trp
XM_024453099.1:c.20152A>T (TTN) XP_024308867.1:p.Arg6718Trp
XM_024453100.1:c.10006A>T (TTN) XP_024308868.1:p.Arg3336Trp