Canonical Allele Identifier: CA349401379
Community Standard Title: NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528350G>T , CM000664.2:g.178528350G>T GRCh38
NC_000002.11:g.179393077G>T , CM000664.1:g.179393077G>T GRCh37
NC_000002.10:g.179101323G>T NCBI36
NG_011618.3:g.307453C>A , LRG_391:g.307453C>A
NG_051363.1:g.10524G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107301C>A (TTN) MANE Select NP_001254479.2:p.Ser35767Arg
ENST00000589042.5:c.107301C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35767Arg
NM_001256850.1:c.102378C>A (TTN) NP_001243779.1:p.Ser34126Arg
NM_003319.4:c.80106C>A (TTN) NP_003310.4:p.Ser26702Arg
NM_133378.4:c.99597C>A (TTN) NP_596869.4:p.Ser33199Arg
NM_133432.3:c.80481C>A (TTN) NP_597676.3:p.Ser26827Arg
NM_133437.4:c.80682C>A (TTN) NP_597681.4:p.Ser26894Arg
NR_038271.1:n.446+4714G>T (TTN-AS1)
NR_038272.1:n.219+4714G>T (TTN-AS1)
ENST00000342175.10:c.80682C>A (TTN) ENSP00000340554.6:p.Ser26894Arg
ENST00000342175.11:c.80682C>A (TTN) ENSP00000340554.6:p.Ser26894Arg
ENST00000342992.10:c.99597C>A (TTN) ENSP00000343764.6:p.Ser33199Arg
ENST00000342992.11:c.99597C>A (TTN) ENSP00000343764.6:p.Ser33199Arg
ENST00000359218.10:c.80481C>A (TTN) ENSP00000352154.5:p.Ser26827Arg
ENST00000359218.9:c.80481C>A (TTN) ENSP00000352154.5:p.Ser26827Arg
ENST00000460472.6:c.80106C>A (TTN) ENSP00000434586.1:p.Ser26702Arg
ENST00000591111.5:c.102378C>A (TTN) ENSP00000465570.1:p.Ser34126Arg
ENST00000615779.4:c.102378C>A (TTN) ENSP00000483597.1:p.Ser34126Arg
XM_011511729.1:c.106398C>A (TTN) XP_011510031.1:p.Ser35466Arg
XM_011511730.1:c.80292C>A (TTN) XP_011510032.1:p.Ser26764Arg
XM_011511731.1:c.80151C>A (TTN) XP_011510033.1:p.Ser26717Arg
XM_017004819.1:c.106194C>A (TTN) XP_016860308.1:p.Ser35398Arg
XM_017004820.1:c.101592C>A (TTN) XP_016860309.1:p.Ser33864Arg
XM_017004821.1:c.101589C>A (TTN) XP_016860310.1:p.Ser33863Arg
XM_017004822.1:c.98631C>A (TTN) XP_016860311.1:p.Ser32877Arg
XM_017004823.1:c.80247C>A (TTN) XP_016860312.1:p.Ser26749Arg
XM_024453094.1:c.101742C>A (TTN) XP_024308862.1:p.Ser33914Arg
XM_024453095.1:c.101739C>A (TTN) XP_024308863.1:p.Ser33913Arg
XM_024453096.1:c.101172C>A (TTN) XP_024308864.1:p.Ser33724Arg
XM_024453097.1:c.98514C>A (TTN) XP_024308865.1:p.Ser32838Arg
XM_024453098.1:c.98433C>A (TTN) XP_024308866.1:p.Ser32811Arg
XM_024453099.1:c.80196C>A (TTN) XP_024308867.1:p.Ser26732Arg
XM_024453100.1:c.70050C>A (TTN) XP_024308868.1:p.Ser23350Arg