Canonical Allele Identifier: CA349422828
Community Standard Title: NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579190G>A , CM000664.2:g.178579190G>A GRCh38
NC_000002.11:g.179443917G>A , CM000664.1:g.179443917G>A GRCh37
NC_000002.10:g.179152163G>A NCBI36
NG_011618.3:g.256613C>T , LRG_391:g.256613C>T
NG_051363.1:g.61364G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67840C>T (TTN) MANE Select NP_001254479.2:p.Gln22614Ter
ENST00000589042.5:c.67840C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22614Ter
NM_001256850.1:c.62917C>T (TTN) NP_001243779.1:p.Gln20973Ter
NM_003319.4:c.40645C>T (TTN) NP_003310.4:p.Gln13549Ter
NM_133378.4:c.60136C>T (TTN) NP_596869.4:p.Gln20046Ter
NM_133432.3:c.41020C>T (TTN) NP_597676.3:p.Gln13674Ter
NM_133437.4:c.41221C>T (TTN) NP_597681.4:p.Gln13741Ter
NR_038271.1:n.596+7741G>A (TTN-AS1)
NR_038272.1:n.2044-3382G>A (TTN-AS1)
ENST00000342175.10:c.41221C>T (TTN) ENSP00000340554.6:p.Gln13741Ter
ENST00000342175.11:c.41221C>T (TTN) ENSP00000340554.6:p.Gln13741Ter
ENST00000342992.10:c.60136C>T (TTN) ENSP00000343764.6:p.Gln20046Ter
ENST00000342992.11:c.60136C>T (TTN) ENSP00000343764.6:p.Gln20046Ter
ENST00000359218.10:c.41020C>T (TTN) ENSP00000352154.5:p.Gln13674Ter
ENST00000359218.9:c.41020C>T (TTN) ENSP00000352154.5:p.Gln13674Ter
ENST00000460472.6:c.40645C>T (TTN) ENSP00000434586.1:p.Gln13549Ter
ENST00000591111.5:c.62917C>T (TTN) ENSP00000465570.1:p.Gln20973Ter
ENST00000615779.4:c.62917C>T (TTN) ENSP00000483597.1:p.Gln20973Ter
XM_011511729.1:c.66937C>T (TTN) XP_011510031.1:p.Gln22313Ter
XM_011511730.1:c.40831C>T (TTN) XP_011510032.1:p.Gln13611Ter
XM_011511731.1:c.40690C>T (TTN) XP_011510033.1:p.Gln13564Ter
XM_017004819.1:c.66733C>T (TTN) XP_016860308.1:p.Gln22245Ter
XM_017004820.1:c.62131C>T (TTN) XP_016860309.1:p.Gln20711Ter
XM_017004821.1:c.62128C>T (TTN) XP_016860310.1:p.Gln20710Ter
XM_017004822.1:c.59170C>T (TTN) XP_016860311.1:p.Gln19724Ter
XM_017004823.1:c.40786C>T (TTN) XP_016860312.1:p.Gln13596Ter
XM_024453094.1:c.62281C>T (TTN) XP_024308862.1:p.Gln20761Ter
XM_024453095.1:c.62278C>T (TTN) XP_024308863.1:p.Gln20760Ter
XM_024453096.1:c.61711C>T (TTN) XP_024308864.1:p.Gln20571Ter
XM_024453097.1:c.59053C>T (TTN) XP_024308865.1:p.Gln19685Ter
XM_024453098.1:c.58972C>T (TTN) XP_024308866.1:p.Gln19658Ter
XM_024453099.1:c.40735C>T (TTN) XP_024308867.1:p.Gln13579Ter
XM_024453100.1:c.30589C>T (TTN) XP_024308868.1:p.Gln10197Ter