Canonical Allele Identifier: CA349500044

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593210G>T , CM000664.2:g.178593210G>T GRCh38
NC_000002.11:g.179457937G>T , CM000664.1:g.179457937G>T GRCh37
NC_000002.10:g.179166183G>T NCBI36
NG_011618.3:g.242593C>A , LRG_391:g.242593C>A
NG_051363.1:g.75384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51294C>A (TTN) ENSP00000343764.6:p.Ser17098Arg
ENST00000342175.11:c.32379C>A (TTN) ENSP00000340554.6:p.Ser10793Arg
ENST00000359218.10:c.32178C>A (TTN) ENSP00000352154.5:p.Ser10726Arg
ENST00000342175.10:c.32379C>A (TTN) ENSP00000340554.6:p.Ser10793Arg
ENST00000342992.10:c.51294C>A (TTN) ENSP00000343764.6:p.Ser17098Arg
ENST00000359218.9:c.32178C>A (TTN) ENSP00000352154.5:p.Ser10726Arg
ENST00000460472.6:c.31803C>A (TTN) ENSP00000434586.1:p.Ser10601Arg
ENST00000589042.5:c.58998C>A (TTN) MANE Select ENSP00000467141.1:p.Ser19666Arg
ENST00000591111.5:c.54075C>A (TTN) ENSP00000465570.1:p.Ser18025Arg
ENST00000615779.4:c.54075C>A (TTN) ENSP00000483597.1:p.Ser18025Arg
NM_001256850.1:c.54075C>A (TTN) NP_001243779.1:p.Ser18025Arg
NM_001267550.2:c.58998C>A (TTN) MANE Select NP_001254479.2:p.Ser19666Arg
NM_003319.4:c.31803C>A (TTN) NP_003310.4:p.Ser10601Arg
NM_133378.4:c.51294C>A (TTN) NP_596869.4:p.Ser17098Arg
NM_133432.3:c.32178C>A (TTN) NP_597676.3:p.Ser10726Arg
NM_133437.4:c.32379C>A (TTN) NP_597681.4:p.Ser10793Arg
NR_038271.1:n.597-4386G>T (TTN-AS1)
NR_038272.1:n.3364+1896G>T (TTN-AS1)
XM_011511729.1:c.58095C>A (TTN) XP_011510031.1:p.Ser19365Arg
XM_011511730.1:c.31989C>A (TTN) XP_011510032.1:p.Ser10663Arg
XM_011511731.1:c.31848C>A (TTN) XP_011510033.1:p.Ser10616Arg
XM_017004819.1:c.57891C>A (TTN) XP_016860308.1:p.Ser19297Arg
XM_017004820.1:c.53289C>A (TTN) XP_016860309.1:p.Ser17763Arg
XM_017004821.1:c.53286C>A (TTN) XP_016860310.1:p.Ser17762Arg
XM_017004822.1:c.50328C>A (TTN) XP_016860311.1:p.Ser16776Arg
XM_017004823.1:c.31944C>A (TTN) XP_016860312.1:p.Ser10648Arg
XM_024453094.1:c.53439C>A (TTN) XP_024308862.1:p.Ser17813Arg
XM_024453095.1:c.53436C>A (TTN) XP_024308863.1:p.Ser17812Arg
XM_024453096.1:c.52869C>A (TTN) XP_024308864.1:p.Ser17623Arg
XM_024453097.1:c.50211C>A (TTN) XP_024308865.1:p.Ser16737Arg
XM_024453098.1:c.50130C>A (TTN) XP_024308866.1:p.Ser16710Arg
XM_024453099.1:c.31893C>A (TTN) XP_024308867.1:p.Ser10631Arg
XM_024453100.1:c.21747C>A (TTN) XP_024308868.1:p.Ser7249Arg