Canonical Allele Identifier: CA349439017
Community Standard Title: NM_001267550.2(TTN):c.97492+1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542263C>T , CM000664.2:g.178542263C>T GRCh38
NC_000002.11:g.179406990C>T , CM000664.1:g.179406990C>T GRCh37
NC_000002.10:g.179115236C>T NCBI36
NG_011618.3:g.293540G>A , LRG_391:g.293540G>A
NG_051363.1:g.24437C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97492+1G>A (TTN) MANE Select NP_001254479.2:n.97492+1G>A
ENST00000589042.5:c.97492+1G>A (TTN) MANE Select ENSP00000467141.1:n.97492+1G>A
NM_001256850.1:c.92569+1G>A (TTN) NP_001243779.1:n.92569+1G>A
NM_003319.4:c.70297+1G>A (TTN) NP_003310.4:n.70297+1G>A
NM_133378.4:c.89788+1G>A (TTN) NP_596869.4:n.89788+1G>A
NM_133432.3:c.70672+1G>A (TTN) NP_597676.3:n.70672+1G>A
NM_133437.4:c.70873+1G>A (TTN) NP_597681.4:n.70873+1G>A
NR_038271.1:n.446+18627C>T (TTN-AS1)
NR_038272.1:n.1945C>T (TTN-AS1)
ENST00000342175.10:c.70873+1G>A (TTN) ENSP00000340554.6:n.70873+1G>A
ENST00000342175.11:c.70873+1G>A (TTN) ENSP00000340554.6:n.70873+1G>A
ENST00000342992.10:c.89788+1G>A (TTN) ENSP00000343764.6:n.89788+1G>A
ENST00000342992.11:c.89788+1G>A (TTN) ENSP00000343764.6:n.89788+1G>A
ENST00000359218.10:c.70672+1G>A (TTN) ENSP00000352154.5:n.70672+1G>A
ENST00000359218.9:c.70672+1G>A (TTN) ENSP00000352154.5:n.70672+1G>A
ENST00000460472.6:c.70297+1G>A (TTN) ENSP00000434586.1:n.70297+1G>A
ENST00000591111.5:c.92569+1G>A (TTN) ENSP00000465570.1:n.92569+1G>A
ENST00000615779.4:c.92569+1G>A (TTN) ENSP00000483597.1:n.92569+1G>A
XM_011511729.1:c.96589+1G>A (TTN) XP_011510031.1:n.96589+1G>A
XM_011511730.1:c.70483+1G>A (TTN) XP_011510032.1:n.70483+1G>A
XM_011511731.1:c.70342+1G>A (TTN) XP_011510033.1:n.70342+1G>A
XM_017004819.1:c.96385+1G>A (TTN) XP_016860308.1:n.96385+1G>A
XM_017004820.1:c.91783+1G>A (TTN) XP_016860309.1:n.91783+1G>A
XM_017004821.1:c.91780+1G>A (TTN) XP_016860310.1:n.91780+1G>A
XM_017004822.1:c.88822+1G>A (TTN) XP_016860311.1:n.88822+1G>A
XM_017004823.1:c.70438+1G>A (TTN) XP_016860312.1:n.70438+1G>A
XM_024453094.1:c.91933+1G>A (TTN) XP_024308862.1:n.91933+1G>A
XM_024453095.1:c.91930+1G>A (TTN) XP_024308863.1:n.91930+1G>A
XM_024453096.1:c.91363+1G>A (TTN) XP_024308864.1:n.91363+1G>A
XM_024453097.1:c.88705+1G>A (TTN) XP_024308865.1:n.88705+1G>A
XM_024453098.1:c.88624+1G>A (TTN) XP_024308866.1:n.88624+1G>A
XM_024453099.1:c.70387+1G>A (TTN) XP_024308867.1:n.70387+1G>A
XM_024453100.1:c.60241+1G>A (TTN) XP_024308868.1:n.60241+1G>A