Canonical Allele Identifier: CA349634982
Community Standard Title: NM_001267550.2(TTN):c.45350-1G>C
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621369C>G , CM000664.2:g.178621369C>G GRCh38
NC_000002.11:g.179486096C>G , CM000664.1:g.179486096C>G GRCh37
NC_000002.10:g.179194341C>G NCBI36
NG_011618.3:g.214434G>C , LRG_391:g.214434G>C
NG_051363.1:g.103543C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45350-1G>C MANE Select NP_001254479.2:n.45350-1G>C
ENST00000589042.5:c.45350-1G>C MANE Select ENSP00000467141.1:n.45350-1G>C
NM_001256850.1:c.40427-1G>C NP_001243779.1:n.40427-1G>C
NM_003319.4:c.18155-1G>C NP_003310.4:n.18155-1G>C
NM_133378.4:c.37646-1G>C NP_596869.4:n.37646-1G>C
NM_133432.3:c.18530-1G>C NP_597676.3:n.18530-1G>C
NM_133437.4:c.18731-1G>C NP_597681.4:n.18731-1G>C
ENST00000342175.10:c.18731-1G>C ENSP00000340554.6:n.18731-1G>C
ENST00000342175.11:c.18731-1G>C ENSP00000340554.6:n.18731-1G>C
ENST00000342992.10:c.37646-1G>C ENSP00000343764.6:n.37646-1G>C
ENST00000342992.11:c.37646-1G>C ENSP00000343764.6:n.37646-1G>C
ENST00000359218.10:c.18530-1G>C ENSP00000352154.5:n.18530-1G>C
ENST00000359218.9:c.18530-1G>C ENSP00000352154.5:n.18530-1G>C
ENST00000460472.6:c.18155-1G>C ENSP00000434586.1:n.18155-1G>C
ENST00000591111.5:c.40427-1G>C ENSP00000465570.1:n.40427-1G>C
ENST00000615779.4:c.40427-1G>C ENSP00000483597.1:n.40427-1G>C
XM_011511729.1:c.44447-1G>C XP_011510031.1:n.44447-1G>C
XM_011511730.1:c.18341-1G>C XP_011510032.1:n.18341-1G>C
XM_011511731.1:c.18200-1G>C XP_011510033.1:n.18200-1G>C
XM_017004819.1:c.44243-1G>C XP_016860308.1:n.44243-1G>C
XM_017004820.1:c.39641-1G>C XP_016860309.1:n.39641-1G>C
XM_017004821.1:c.39638-1G>C XP_016860310.1:n.39638-1G>C
XM_017004822.1:c.36680-1G>C XP_016860311.1:n.36680-1G>C
XM_017004823.1:c.18296-1G>C XP_016860312.1:n.18296-1G>C
XM_024453094.1:c.39791-1G>C XP_024308862.1:n.39791-1G>C
XM_024453095.1:c.39788-1G>C XP_024308863.1:n.39788-1G>C
XM_024453096.1:c.39221-1G>C XP_024308864.1:n.39221-1G>C
XM_024453097.1:c.36563-1G>C XP_024308865.1:n.36563-1G>C
XM_024453098.1:c.36482-1G>C XP_024308866.1:n.36482-1G>C
XM_024453099.1:c.18245-1G>C XP_024308867.1:n.18245-1G>C
XM_024453100.1:c.8099-1G>C XP_024308868.1:n.8099-1G>C