Canonical Allele Identifier: CA349448650
Community Standard Title: NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587366G>C , CM000664.2:g.178587366G>C GRCh38
NC_000002.11:g.179452093G>C , CM000664.1:g.179452093G>C GRCh37
NC_000002.10:g.179160339G>C NCBI36
NG_011618.3:g.248437C>G , LRG_391:g.248437C>G
NG_051363.1:g.69540G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.63845C>G (TTN) MANE Select NP_001254479.2:p.Ser21282Ter
ENST00000589042.5:c.63845C>G (TTN) MANE Select ENSP00000467141.1:p.Ser21282Ter
NM_001256850.1:c.58922C>G (TTN) NP_001243779.1:p.Ser19641Ter
NM_003319.4:c.36650C>G (TTN) NP_003310.4:p.Ser12217Ter
NM_133378.4:c.56141C>G (TTN) NP_596869.4:p.Ser18714Ter
NM_133432.3:c.37025C>G (TTN) NP_597676.3:p.Ser12342Ter
NM_133437.4:c.37226C>G (TTN) NP_597681.4:p.Ser12409Ter
NR_038271.1:n.597-10230G>C (TTN-AS1)
NR_038272.1:n.3188+2373G>C (TTN-AS1)
ENST00000342175.10:c.37226C>G (TTN) ENSP00000340554.6:p.Ser12409Ter
ENST00000342175.11:c.37226C>G (TTN) ENSP00000340554.6:p.Ser12409Ter
ENST00000342992.10:c.56141C>G (TTN) ENSP00000343764.6:p.Ser18714Ter
ENST00000342992.11:c.56141C>G (TTN) ENSP00000343764.6:p.Ser18714Ter
ENST00000359218.10:c.37025C>G (TTN) ENSP00000352154.5:p.Ser12342Ter
ENST00000359218.9:c.37025C>G (TTN) ENSP00000352154.5:p.Ser12342Ter
ENST00000460472.6:c.36650C>G (TTN) ENSP00000434586.1:p.Ser12217Ter
ENST00000591111.5:c.58922C>G (TTN) ENSP00000465570.1:p.Ser19641Ter
ENST00000615779.4:c.58922C>G (TTN) ENSP00000483597.1:p.Ser19641Ter
XM_011511729.1:c.62942C>G (TTN) XP_011510031.1:p.Ser20981Ter
XM_011511730.1:c.36836C>G (TTN) XP_011510032.1:p.Ser12279Ter
XM_011511731.1:c.36695C>G (TTN) XP_011510033.1:p.Ser12232Ter
XM_017004819.1:c.62738C>G (TTN) XP_016860308.1:p.Ser20913Ter
XM_017004820.1:c.58136C>G (TTN) XP_016860309.1:p.Ser19379Ter
XM_017004821.1:c.58133C>G (TTN) XP_016860310.1:p.Ser19378Ter
XM_017004822.1:c.55175C>G (TTN) XP_016860311.1:p.Ser18392Ter
XM_017004823.1:c.36791C>G (TTN) XP_016860312.1:p.Ser12264Ter
XM_024453094.1:c.58286C>G (TTN) XP_024308862.1:p.Ser19429Ter
XM_024453095.1:c.58283C>G (TTN) XP_024308863.1:p.Ser19428Ter
XM_024453096.1:c.57716C>G (TTN) XP_024308864.1:p.Ser19239Ter
XM_024453097.1:c.55058C>G (TTN) XP_024308865.1:p.Ser18353Ter
XM_024453098.1:c.54977C>G (TTN) XP_024308866.1:p.Ser18326Ter
XM_024453099.1:c.36740C>G (TTN) XP_024308867.1:p.Ser12247Ter
XM_024453100.1:c.26594C>G (TTN) XP_024308868.1:p.Ser8865Ter