Canonical Allele Identifier: CA349492067
Community Standard Title: NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548967G>A , CM000664.2:g.178548967G>A GRCh38
NC_000002.11:g.179413694G>A , CM000664.1:g.179413694G>A GRCh37
NC_000002.10:g.179121940G>A NCBI36
NG_011618.3:g.286836C>T , LRG_391:g.286836C>T
NG_051363.1:g.31141G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92659C>T (TTN) MANE Select NP_001254479.2:p.Gln30887Ter
ENST00000589042.5:c.92659C>T (TTN) MANE Select ENSP00000467141.1:p.Gln30887Ter
NM_001256850.1:c.87736C>T (TTN) NP_001243779.1:p.Gln29246Ter
NM_003319.4:c.65464C>T (TTN) NP_003310.4:p.Gln21822Ter
NM_133378.4:c.84955C>T (TTN) NP_596869.4:p.Gln28319Ter
NM_133432.3:c.65839C>T (TTN) NP_597676.3:p.Gln21947Ter
NM_133437.4:c.66040C>T (TTN) NP_597681.4:p.Gln22014Ter
NR_038271.1:n.447-22333G>A (TTN-AS1)
NR_038272.1:n.2043+6606G>A (TTN-AS1)
ENST00000342175.10:c.66040C>T (TTN) ENSP00000340554.6:p.Gln22014Ter
ENST00000342175.11:c.66040C>T (TTN) ENSP00000340554.6:p.Gln22014Ter
ENST00000342992.10:c.84955C>T (TTN) ENSP00000343764.6:p.Gln28319Ter
ENST00000342992.11:c.84955C>T (TTN) ENSP00000343764.6:p.Gln28319Ter
ENST00000359218.10:c.65839C>T (TTN) ENSP00000352154.5:p.Gln21947Ter
ENST00000359218.9:c.65839C>T (TTN) ENSP00000352154.5:p.Gln21947Ter
ENST00000460472.6:c.65464C>T (TTN) ENSP00000434586.1:p.Gln21822Ter
ENST00000591111.5:c.87736C>T (TTN) ENSP00000465570.1:p.Gln29246Ter
ENST00000615779.4:c.87736C>T (TTN) ENSP00000483597.1:p.Gln29246Ter
XM_011511729.1:c.91756C>T (TTN) XP_011510031.1:p.Gln30586Ter
XM_011511730.1:c.65650C>T (TTN) XP_011510032.1:p.Gln21884Ter
XM_011511731.1:c.65509C>T (TTN) XP_011510033.1:p.Gln21837Ter
XM_017004819.1:c.91552C>T (TTN) XP_016860308.1:p.Gln30518Ter
XM_017004820.1:c.86950C>T (TTN) XP_016860309.1:p.Gln28984Ter
XM_017004821.1:c.86947C>T (TTN) XP_016860310.1:p.Gln28983Ter
XM_017004822.1:c.83989C>T (TTN) XP_016860311.1:p.Gln27997Ter
XM_017004823.1:c.65605C>T (TTN) XP_016860312.1:p.Gln21869Ter
XM_024453094.1:c.87100C>T (TTN) XP_024308862.1:p.Gln29034Ter
XM_024453095.1:c.87097C>T (TTN) XP_024308863.1:p.Gln29033Ter
XM_024453096.1:c.86530C>T (TTN) XP_024308864.1:p.Gln28844Ter
XM_024453097.1:c.83872C>T (TTN) XP_024308865.1:p.Gln27958Ter
XM_024453098.1:c.83791C>T (TTN) XP_024308866.1:p.Gln27931Ter
XM_024453099.1:c.65554C>T (TTN) XP_024308867.1:p.Gln21852Ter
XM_024453100.1:c.55408C>T (TTN) XP_024308868.1:p.Gln18470Ter