Canonical Allele Identifier: CA349441902
Community Standard Title: NM_001267550.2(TTN):c.97192+1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542661C>G , CM000664.2:g.178542661C>G GRCh38
NC_000002.11:g.179407388C>G , CM000664.1:g.179407388C>G GRCh37
NC_000002.10:g.179115634C>G NCBI36
NG_011618.3:g.293142G>C , LRG_391:g.293142G>C
NG_051363.1:g.24835C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97192+1G>C (TTN) MANE Select NP_001254479.2:n.97192+1G>C
ENST00000589042.5:c.97192+1G>C (TTN) MANE Select ENSP00000467141.1:n.97192+1G>C
NM_001256850.1:c.92269+1G>C (TTN) NP_001243779.1:n.92269+1G>C
NM_003319.4:c.69997+1G>C (TTN) NP_003310.4:n.69997+1G>C
NM_133378.4:c.89488+1G>C (TTN) NP_596869.4:n.89488+1G>C
NM_133432.3:c.70372+1G>C (TTN) NP_597676.3:n.70372+1G>C
NM_133437.4:c.70573+1G>C (TTN) NP_597681.4:n.70573+1G>C
NR_038271.1:n.446+19025C>G (TTN-AS1)
NR_038272.1:n.2043+300C>G (TTN-AS1)
ENST00000342175.10:c.70573+1G>C (TTN) ENSP00000340554.6:n.70573+1G>C
ENST00000342175.11:c.70573+1G>C (TTN) ENSP00000340554.6:n.70573+1G>C
ENST00000342992.10:c.89488+1G>C (TTN) ENSP00000343764.6:n.89488+1G>C
ENST00000342992.11:c.89488+1G>C (TTN) ENSP00000343764.6:n.89488+1G>C
ENST00000359218.10:c.70372+1G>C (TTN) ENSP00000352154.5:n.70372+1G>C
ENST00000359218.9:c.70372+1G>C (TTN) ENSP00000352154.5:n.70372+1G>C
ENST00000460472.6:c.69997+1G>C (TTN) ENSP00000434586.1:n.69997+1G>C
ENST00000591111.5:c.92269+1G>C (TTN) ENSP00000465570.1:n.92269+1G>C
ENST00000615779.4:c.92269+1G>C (TTN) ENSP00000483597.1:n.92269+1G>C
XM_011511729.1:c.96289+1G>C (TTN) XP_011510031.1:n.96289+1G>C
XM_011511730.1:c.70183+1G>C (TTN) XP_011510032.1:n.70183+1G>C
XM_011511731.1:c.70042+1G>C (TTN) XP_011510033.1:n.70042+1G>C
XM_017004819.1:c.96085+1G>C (TTN) XP_016860308.1:n.96085+1G>C
XM_017004820.1:c.91483+1G>C (TTN) XP_016860309.1:n.91483+1G>C
XM_017004821.1:c.91480+1G>C (TTN) XP_016860310.1:n.91480+1G>C
XM_017004822.1:c.88522+1G>C (TTN) XP_016860311.1:n.88522+1G>C
XM_017004823.1:c.70138+1G>C (TTN) XP_016860312.1:n.70138+1G>C
XM_024453094.1:c.91633+1G>C (TTN) XP_024308862.1:n.91633+1G>C
XM_024453095.1:c.91630+1G>C (TTN) XP_024308863.1:n.91630+1G>C
XM_024453096.1:c.91063+1G>C (TTN) XP_024308864.1:n.91063+1G>C
XM_024453097.1:c.88405+1G>C (TTN) XP_024308865.1:n.88405+1G>C
XM_024453098.1:c.88324+1G>C (TTN) XP_024308866.1:n.88324+1G>C
XM_024453099.1:c.70087+1G>C (TTN) XP_024308867.1:n.70087+1G>C
XM_024453100.1:c.59941+1G>C (TTN) XP_024308868.1:n.59941+1G>C