Canonical Allele Identifier: CA349472538
Community Standard Title: NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546866G>C , CM000664.2:g.178546866G>C GRCh38
NC_000002.11:g.179411593G>C , CM000664.1:g.179411593G>C GRCh37
NC_000002.10:g.179119839G>C NCBI36
NG_011618.3:g.288937C>G , LRG_391:g.288937C>G
NG_051363.1:g.29040G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94562C>G (TTN) MANE Select NP_001254479.2:p.Ser31521Ter
ENST00000589042.5:c.94562C>G (TTN) MANE Select ENSP00000467141.1:p.Ser31521Ter
NM_001256850.1:c.89639C>G (TTN) NP_001243779.1:p.Ser29880Ter
NM_003319.4:c.67367C>G (TTN) NP_003310.4:p.Ser22456Ter
NM_133378.4:c.86858C>G (TTN) NP_596869.4:p.Ser28953Ter
NM_133432.3:c.67742C>G (TTN) NP_597676.3:p.Ser22581Ter
NM_133437.4:c.67943C>G (TTN) NP_597681.4:p.Ser22648Ter
NR_038271.1:n.446+23230G>C (TTN-AS1)
NR_038272.1:n.2043+4505G>C (TTN-AS1)
ENST00000342175.10:c.67943C>G (TTN) ENSP00000340554.6:p.Ser22648Ter
ENST00000342175.11:c.67943C>G (TTN) ENSP00000340554.6:p.Ser22648Ter
ENST00000342992.10:c.86858C>G (TTN) ENSP00000343764.6:p.Ser28953Ter
ENST00000342992.11:c.86858C>G (TTN) ENSP00000343764.6:p.Ser28953Ter
ENST00000359218.10:c.67742C>G (TTN) ENSP00000352154.5:p.Ser22581Ter
ENST00000359218.9:c.67742C>G (TTN) ENSP00000352154.5:p.Ser22581Ter
ENST00000460472.6:c.67367C>G (TTN) ENSP00000434586.1:p.Ser22456Ter
ENST00000591111.5:c.89639C>G (TTN) ENSP00000465570.1:p.Ser29880Ter
ENST00000615779.4:c.89639C>G (TTN) ENSP00000483597.1:p.Ser29880Ter
XM_011511729.1:c.93659C>G (TTN) XP_011510031.1:p.Ser31220Ter
XM_011511730.1:c.67553C>G (TTN) XP_011510032.1:p.Ser22518Ter
XM_011511731.1:c.67412C>G (TTN) XP_011510033.1:p.Ser22471Ter
XM_017004819.1:c.93455C>G (TTN) XP_016860308.1:p.Ser31152Ter
XM_017004820.1:c.88853C>G (TTN) XP_016860309.1:p.Ser29618Ter
XM_017004821.1:c.88850C>G (TTN) XP_016860310.1:p.Ser29617Ter
XM_017004822.1:c.85892C>G (TTN) XP_016860311.1:p.Ser28631Ter
XM_017004823.1:c.67508C>G (TTN) XP_016860312.1:p.Ser22503Ter
XM_024453094.1:c.89003C>G (TTN) XP_024308862.1:p.Ser29668Ter
XM_024453095.1:c.89000C>G (TTN) XP_024308863.1:p.Ser29667Ter
XM_024453096.1:c.88433C>G (TTN) XP_024308864.1:p.Ser29478Ter
XM_024453097.1:c.85775C>G (TTN) XP_024308865.1:p.Ser28592Ter
XM_024453098.1:c.85694C>G (TTN) XP_024308866.1:p.Ser28565Ter
XM_024453099.1:c.67457C>G (TTN) XP_024308867.1:p.Ser22486Ter
XM_024453100.1:c.57311C>G (TTN) XP_024308868.1:p.Ser19104Ter