Canonical Allele Identifier: CA184773

Linked Data

ClinVar Variation Id: 179608
dbSNP Id: rs727504986

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613917G>A , CM000664.2:g.178613917G>A GRCh38
NC_000002.11:g.179478644G>A , CM000664.1:g.179478644G>A GRCh37
NC_000002.10:g.179186889G>A NCBI36
NG_011618.3:g.221886C>T , LRG_391:g.221886C>T
NG_051363.1:g.96091G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41662C>T (TTN) ENSP00000343764.6:p.Arg13888Cys
ENST00000342175.11:c.22747C>T (TTN) ENSP00000340554.6:p.Arg7583Cys
ENST00000359218.10:c.22546C>T (TTN) ENSP00000352154.5:p.Arg7516Cys
ENST00000342175.10:c.22747C>T (TTN) ENSP00000340554.6:p.Arg7583Cys
ENST00000342992.10:c.41662C>T (TTN) ENSP00000343764.6:p.Arg13888Cys
ENST00000359218.9:c.22546C>T (TTN) ENSP00000352154.5:p.Arg7516Cys
ENST00000460472.6:c.22171C>T (TTN) ENSP00000434586.1:p.Arg7391Cys
ENST00000589042.5:c.49366C>T (TTN) MANE Select ENSP00000467141.1:p.Arg16456Cys
ENST00000591111.5:c.44443C>T (TTN) ENSP00000465570.1:p.Arg14815Cys
ENST00000615779.4:c.44443C>T (TTN) ENSP00000483597.1:p.Arg14815Cys
NM_001256850.1:c.44443C>T (TTN) NP_001243779.1:p.Arg14815Cys
NM_001267550.2:c.49366C>T (TTN) MANE Select NP_001254479.2:p.Arg16456Cys
NM_003319.4:c.22171C>T (TTN) NP_003310.4:p.Arg7391Cys
NM_133378.4:c.41662C>T (TTN) NP_596869.4:p.Arg13888Cys
NM_133432.3:c.22546C>T (TTN) NP_597676.3:p.Arg7516Cys
NM_133437.4:c.22747C>T (TTN) NP_597681.4:p.Arg7583Cys
NR_038271.1:n.783-118G>A (TTN-AS1)
XM_011511729.1:c.48463C>T (TTN) XP_011510031.1:p.Arg16155Cys
XM_011511730.1:c.22357C>T (TTN) XP_011510032.1:p.Arg7453Cys
XM_011511731.1:c.22216C>T (TTN) XP_011510033.1:p.Arg7406Cys
XM_017004819.1:c.48259C>T (TTN) XP_016860308.1:p.Arg16087Cys
XM_017004820.1:c.43657C>T (TTN) XP_016860309.1:p.Arg14553Cys
XM_017004821.1:c.43654C>T (TTN) XP_016860310.1:p.Arg14552Cys
XM_017004822.1:c.40696C>T (TTN) XP_016860311.1:p.Arg13566Cys
XM_017004823.1:c.22312C>T (TTN) XP_016860312.1:p.Arg7438Cys
XM_024453094.1:c.43807C>T (TTN) XP_024308862.1:p.Arg14603Cys
XM_024453095.1:c.43804C>T (TTN) XP_024308863.1:p.Arg14602Cys
XM_024453096.1:c.43237C>T (TTN) XP_024308864.1:p.Arg14413Cys
XM_024453097.1:c.40579C>T (TTN) XP_024308865.1:p.Arg13527Cys
XM_024453098.1:c.40498C>T (TTN) XP_024308866.1:p.Arg13500Cys
XM_024453099.1:c.22261C>T (TTN) XP_024308867.1:p.Arg7421Cys
XM_024453100.1:c.12115C>T (TTN) XP_024308868.1:p.Arg4039Cys