Canonical Allele Identifier: CA349424044
Community Standard Title: NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579985A>C , CM000664.2:g.178579985A>C GRCh38
NC_000002.11:g.179444712A>C , CM000664.1:g.179444712A>C GRCh37
NC_000002.10:g.179152958A>C NCBI36
NG_011618.3:g.255818T>G , LRG_391:g.255818T>G
NG_051363.1:g.62159A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67302T>G (TTN) MANE Select NP_001254479.2:p.Tyr22434Ter
ENST00000589042.5:c.67302T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr22434Ter
NM_001256850.1:c.62379T>G (TTN) NP_001243779.1:p.Tyr20793Ter
NM_003319.4:c.40107T>G (TTN) NP_003310.4:p.Tyr13369Ter
NM_133378.4:c.59598T>G (TTN) NP_596869.4:p.Tyr19866Ter
NM_133432.3:c.40482T>G (TTN) NP_597676.3:p.Tyr13494Ter
NM_133437.4:c.40683T>G (TTN) NP_597681.4:p.Tyr13561Ter
NR_038271.1:n.596+8536A>C (TTN-AS1)
NR_038272.1:n.2044-2587A>C (TTN-AS1)
ENST00000342175.10:c.40683T>G (TTN) ENSP00000340554.6:p.Tyr13561Ter
ENST00000342175.11:c.40683T>G (TTN) ENSP00000340554.6:p.Tyr13561Ter
ENST00000342992.10:c.59598T>G (TTN) ENSP00000343764.6:p.Tyr19866Ter
ENST00000342992.11:c.59598T>G (TTN) ENSP00000343764.6:p.Tyr19866Ter
ENST00000359218.10:c.40482T>G (TTN) ENSP00000352154.5:p.Tyr13494Ter
ENST00000359218.9:c.40482T>G (TTN) ENSP00000352154.5:p.Tyr13494Ter
ENST00000460472.6:c.40107T>G (TTN) ENSP00000434586.1:p.Tyr13369Ter
ENST00000591111.5:c.62379T>G (TTN) ENSP00000465570.1:p.Tyr20793Ter
ENST00000615779.4:c.62379T>G (TTN) ENSP00000483597.1:p.Tyr20793Ter
XM_011511729.1:c.66399T>G (TTN) XP_011510031.1:p.Tyr22133Ter
XM_011511730.1:c.40293T>G (TTN) XP_011510032.1:p.Tyr13431Ter
XM_011511731.1:c.40152T>G (TTN) XP_011510033.1:p.Tyr13384Ter
XM_017004819.1:c.66195T>G (TTN) XP_016860308.1:p.Tyr22065Ter
XM_017004820.1:c.61593T>G (TTN) XP_016860309.1:p.Tyr20531Ter
XM_017004821.1:c.61590T>G (TTN) XP_016860310.1:p.Tyr20530Ter
XM_017004822.1:c.58632T>G (TTN) XP_016860311.1:p.Tyr19544Ter
XM_017004823.1:c.40248T>G (TTN) XP_016860312.1:p.Tyr13416Ter
XM_024453094.1:c.61743T>G (TTN) XP_024308862.1:p.Tyr20581Ter
XM_024453095.1:c.61740T>G (TTN) XP_024308863.1:p.Tyr20580Ter
XM_024453096.1:c.61173T>G (TTN) XP_024308864.1:p.Tyr20391Ter
XM_024453097.1:c.58515T>G (TTN) XP_024308865.1:p.Tyr19505Ter
XM_024453098.1:c.58434T>G (TTN) XP_024308866.1:p.Tyr19478Ter
XM_024453099.1:c.40197T>G (TTN) XP_024308867.1:p.Tyr13399Ter
XM_024453100.1:c.30051T>G (TTN) XP_024308868.1:p.Tyr10017Ter