Canonical Allele Identifier: CA10576497
Community Standard Title: NM_001267550.2(TTN):c.64397-1G>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178585348C>G , CM000664.2:g.178585348C>G GRCh38
NC_000002.11:g.179450075C>G , CM000664.1:g.179450075C>G GRCh37
NC_000002.10:g.179158321C>G NCBI36
NG_011618.3:g.250455G>C , LRG_391:g.250455G>C
NG_051363.1:g.67522C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64397-1G>C (TTN) MANE Select NP_001254479.2:n.64397-1G>C
ENST00000589042.5:c.64397-1G>C (TTN) MANE Select ENSP00000467141.1:n.64397-1G>C
NM_001256850.1:c.59474-1G>C (TTN) NP_001243779.1:n.59474-1G>C
NM_003319.4:c.37202-1G>C (TTN) NP_003310.4:n.37202-1G>C
NM_133378.4:c.56693-1G>C (TTN) NP_596869.4:n.56693-1G>C
NM_133432.3:c.37577-1G>C (TTN) NP_597676.3:n.37577-1G>C
NM_133437.4:c.37778-1G>C (TTN) NP_597681.4:n.37778-1G>C
NR_038271.1:n.597-12248C>G (TTN-AS1)
NR_038272.1:n.3188+355C>G (TTN-AS1)
ENST00000342175.10:c.37778-1G>C (TTN) ENSP00000340554.6:n.37778-1G>C
ENST00000342175.11:c.37778-1G>C (TTN) ENSP00000340554.6:n.37778-1G>C
ENST00000342992.10:c.56693-1G>C (TTN) ENSP00000343764.6:n.56693-1G>C
ENST00000342992.11:c.56693-1G>C (TTN) ENSP00000343764.6:n.56693-1G>C
ENST00000359218.10:c.37577-1G>C (TTN) ENSP00000352154.5:n.37577-1G>C
ENST00000359218.9:c.37577-1G>C (TTN) ENSP00000352154.5:n.37577-1G>C
ENST00000460472.6:c.37202-1G>C (TTN) ENSP00000434586.1:n.37202-1G>C
ENST00000591111.5:c.59474-1G>C (TTN) ENSP00000465570.1:n.59474-1G>C
ENST00000615779.4:c.59474-1G>C (TTN) ENSP00000483597.1:n.59474-1G>C
XM_011511729.1:c.63494-1G>C (TTN) XP_011510031.1:n.63494-1G>C
XM_011511730.1:c.37388-1G>C (TTN) XP_011510032.1:n.37388-1G>C
XM_011511731.1:c.37247-1G>C (TTN) XP_011510033.1:n.37247-1G>C
XM_017004819.1:c.63290-1G>C (TTN) XP_016860308.1:n.63290-1G>C
XM_017004820.1:c.58688-1G>C (TTN) XP_016860309.1:n.58688-1G>C
XM_017004821.1:c.58685-1G>C (TTN) XP_016860310.1:n.58685-1G>C
XM_017004822.1:c.55727-1G>C (TTN) XP_016860311.1:n.55727-1G>C
XM_017004823.1:c.37343-1G>C (TTN) XP_016860312.1:n.37343-1G>C
XM_024453094.1:c.58838-1G>C (TTN) XP_024308862.1:n.58838-1G>C
XM_024453095.1:c.58835-1G>C (TTN) XP_024308863.1:n.58835-1G>C
XM_024453096.1:c.58268-1G>C (TTN) XP_024308864.1:n.58268-1G>C
XM_024453097.1:c.55610-1G>C (TTN) XP_024308865.1:n.55610-1G>C
XM_024453098.1:c.55529-1G>C (TTN) XP_024308866.1:n.55529-1G>C
XM_024453099.1:c.37292-1G>C (TTN) XP_024308867.1:n.37292-1G>C
XM_024453100.1:c.27146-1G>C (TTN) XP_024308868.1:n.27146-1G>C