Canonical Allele Identifier: CA349432644
Community Standard Title: NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178583011G>C , CM000664.2:g.178583011G>C GRCh38
NC_000002.11:g.179447738G>C , CM000664.1:g.179447738G>C GRCh37
NC_000002.10:g.179155984G>C NCBI36
NG_011618.3:g.252792C>G , LRG_391:g.252792C>G
NG_051363.1:g.65185G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65792C>G (TTN) MANE Select NP_001254479.2:p.Ser21931Ter
ENST00000589042.5:c.65792C>G (TTN) MANE Select ENSP00000467141.1:p.Ser21931Ter
NM_001256850.1:c.60869C>G (TTN) NP_001243779.1:p.Ser20290Ter
NM_003319.4:c.38597C>G (TTN) NP_003310.4:p.Ser12866Ter
NM_133378.4:c.58088C>G (TTN) NP_596869.4:p.Ser19363Ter
NM_133432.3:c.38972C>G (TTN) NP_597676.3:p.Ser12991Ter
NM_133437.4:c.39173C>G (TTN) NP_597681.4:p.Ser13058Ter
NR_038271.1:n.596+11562G>C (TTN-AS1)
NR_038272.1:n.2199G>C (TTN-AS1)
ENST00000342175.10:c.39173C>G (TTN) ENSP00000340554.6:p.Ser13058Ter
ENST00000342175.11:c.39173C>G (TTN) ENSP00000340554.6:p.Ser13058Ter
ENST00000342992.10:c.58088C>G (TTN) ENSP00000343764.6:p.Ser19363Ter
ENST00000342992.11:c.58088C>G (TTN) ENSP00000343764.6:p.Ser19363Ter
ENST00000359218.10:c.38972C>G (TTN) ENSP00000352154.5:p.Ser12991Ter
ENST00000359218.9:c.38972C>G (TTN) ENSP00000352154.5:p.Ser12991Ter
ENST00000460472.6:c.38597C>G (TTN) ENSP00000434586.1:p.Ser12866Ter
ENST00000591111.5:c.60869C>G (TTN) ENSP00000465570.1:p.Ser20290Ter
ENST00000615779.4:c.60869C>G (TTN) ENSP00000483597.1:p.Ser20290Ter
XM_011511729.1:c.64889C>G (TTN) XP_011510031.1:p.Ser21630Ter
XM_011511730.1:c.38783C>G (TTN) XP_011510032.1:p.Ser12928Ter
XM_011511731.1:c.38642C>G (TTN) XP_011510033.1:p.Ser12881Ter
XM_017004819.1:c.64685C>G (TTN) XP_016860308.1:p.Ser21562Ter
XM_017004820.1:c.60083C>G (TTN) XP_016860309.1:p.Ser20028Ter
XM_017004821.1:c.60080C>G (TTN) XP_016860310.1:p.Ser20027Ter
XM_017004822.1:c.57122C>G (TTN) XP_016860311.1:p.Ser19041Ter
XM_017004823.1:c.38738C>G (TTN) XP_016860312.1:p.Ser12913Ter
XM_024453094.1:c.60233C>G (TTN) XP_024308862.1:p.Ser20078Ter
XM_024453095.1:c.60230C>G (TTN) XP_024308863.1:p.Ser20077Ter
XM_024453096.1:c.59663C>G (TTN) XP_024308864.1:p.Ser19888Ter
XM_024453097.1:c.57005C>G (TTN) XP_024308865.1:p.Ser19002Ter
XM_024453098.1:c.56924C>G (TTN) XP_024308866.1:p.Ser18975Ter
XM_024453099.1:c.38687C>G (TTN) XP_024308867.1:p.Ser12896Ter
XM_024453100.1:c.28541C>G (TTN) XP_024308868.1:p.Ser9514Ter