Canonical Allele Identifier: CA1988209
Community Standard Title: NM_001267550.2(TTN):c.88047G>A (p.Lys29349=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557107C>T , CM000664.2:g.178557107C>T GRCh38
NC_000002.11:g.179421834C>T , CM000664.1:g.179421834C>T GRCh37
NC_000002.10:g.179130080C>T NCBI36
NG_011618.3:g.278696G>A , LRG_391:g.278696G>A
NG_051363.1:g.39281C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.88047G>A (TTN) MANE Select NP_001254479.2:p.Lys29349=
ENST00000589042.5:c.88047G>A (TTN) MANE Select ENSP00000467141.1:p.Lys29349=
NM_001256850.1:c.83124G>A (TTN) NP_001243779.1:p.Lys27708=
NM_003319.4:c.60852G>A (TTN) NP_003310.4:p.Lys20284=
NM_133378.4:c.80343G>A (TTN) NP_596869.4:p.Lys26781=
NM_133432.3:c.61227G>A (TTN) NP_597676.3:p.Lys20409=
NM_133437.4:c.61428G>A (TTN) NP_597681.4:p.Lys20476=
NR_038271.1:n.447-14193C>T (TTN-AS1)
NR_038272.1:n.2043+14746C>T (TTN-AS1)
ENST00000342175.10:c.61428G>A (TTN) ENSP00000340554.6:p.Lys20476=
ENST00000342175.11:c.61428G>A (TTN) ENSP00000340554.6:p.Lys20476=
ENST00000342992.10:c.80343G>A (TTN) ENSP00000343764.6:p.Lys26781=
ENST00000342992.11:c.80343G>A (TTN) ENSP00000343764.6:p.Lys26781=
ENST00000359218.10:c.61227G>A (TTN) ENSP00000352154.5:p.Lys20409=
ENST00000359218.9:c.61227G>A (TTN) ENSP00000352154.5:p.Lys20409=
ENST00000460472.6:c.60852G>A (TTN) ENSP00000434586.1:p.Lys20284=
ENST00000591111.5:c.83124G>A (TTN) ENSP00000465570.1:p.Lys27708=
ENST00000615779.4:c.83124G>A (TTN) ENSP00000483597.1:p.Lys27708=
XM_011511729.1:c.87144G>A (TTN) XP_011510031.1:p.Lys29048=
XM_011511730.1:c.61038G>A (TTN) XP_011510032.1:p.Lys20346=
XM_011511731.1:c.60897G>A (TTN) XP_011510033.1:p.Lys20299=
XM_017004819.1:c.86940G>A (TTN) XP_016860308.1:p.Lys28980=
XM_017004820.1:c.82338G>A (TTN) XP_016860309.1:p.Lys27446=
XM_017004821.1:c.82335G>A (TTN) XP_016860310.1:p.Lys27445=
XM_017004822.1:c.79377G>A (TTN) XP_016860311.1:p.Lys26459=
XM_017004823.1:c.60993G>A (TTN) XP_016860312.1:p.Lys20331=
XM_024453094.1:c.82488G>A (TTN) XP_024308862.1:p.Lys27496=
XM_024453095.1:c.82485G>A (TTN) XP_024308863.1:p.Lys27495=
XM_024453096.1:c.81918G>A (TTN) XP_024308864.1:p.Lys27306=
XM_024453097.1:c.79260G>A (TTN) XP_024308865.1:p.Lys26420=
XM_024453098.1:c.79179G>A (TTN) XP_024308866.1:p.Lys26393=
XM_024453099.1:c.60942G>A (TTN) XP_024308867.1:p.Lys20314=
XM_024453100.1:c.50796G>A (TTN) XP_024308868.1:p.Lys16932=