Canonical Allele Identifier: CA2577170564
Community Standard Title: NM_001267550.2(TTN):c.86822-8T>G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178558645A>C , CM000664.2:g.178558645A>C GRCh38
NC_000002.11:g.179423372A>C , CM000664.1:g.179423372A>C GRCh37
NC_000002.10:g.179131618A>C NCBI36
NG_011618.3:g.277158T>G , LRG_391:g.277158T>G
NG_051363.1:g.40819A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86822-8T>G (TTN) MANE Select NP_001254479.2:n.86822-8T>G
ENST00000589042.5:c.86822-8T>G (TTN) MANE Select ENSP00000467141.1:n.86822-8T>G
NM_001256850.1:c.81899-8T>G (TTN) NP_001243779.1:n.81899-8T>G
NM_003319.4:c.59627-8T>G (TTN) NP_003310.4:n.59627-8T>G
NM_133378.4:c.79118-8T>G (TTN) NP_596869.4:n.79118-8T>G
NM_133432.3:c.60002-8T>G (TTN) NP_597676.3:n.60002-8T>G
NM_133437.4:c.60203-8T>G (TTN) NP_597681.4:n.60203-8T>G
NR_038271.1:n.447-12655A>C (TTN-AS1)
NR_038272.1:n.2043+16284A>C (TTN-AS1)
ENST00000342175.10:c.60203-8T>G (TTN) ENSP00000340554.6:n.60203-8T>G
ENST00000342175.11:c.60203-8T>G (TTN) ENSP00000340554.6:n.60203-8T>G
ENST00000342992.10:c.79118-8T>G (TTN) ENSP00000343764.6:n.79118-8T>G
ENST00000342992.11:c.79118-8T>G (TTN) ENSP00000343764.6:n.79118-8T>G
ENST00000359218.10:c.60002-8T>G (TTN) ENSP00000352154.5:n.60002-8T>G
ENST00000359218.9:c.60002-8T>G (TTN) ENSP00000352154.5:n.60002-8T>G
ENST00000460472.6:c.59627-8T>G (TTN) ENSP00000434586.1:n.59627-8T>G
ENST00000591111.5:c.81899-8T>G (TTN) ENSP00000465570.1:n.81899-8T>G
ENST00000615779.4:c.81899-8T>G (TTN) ENSP00000483597.1:n.81899-8T>G
XM_011511729.1:c.85919-8T>G (TTN) XP_011510031.1:n.85919-8T>G
XM_011511730.1:c.59813-8T>G (TTN) XP_011510032.1:n.59813-8T>G
XM_011511731.1:c.59672-8T>G (TTN) XP_011510033.1:n.59672-8T>G
XM_017004819.1:c.85715-8T>G (TTN) XP_016860308.1:n.85715-8T>G
XM_017004820.1:c.81113-8T>G (TTN) XP_016860309.1:n.81113-8T>G
XM_017004821.1:c.81110-8T>G (TTN) XP_016860310.1:n.81110-8T>G
XM_017004822.1:c.78152-8T>G (TTN) XP_016860311.1:n.78152-8T>G
XM_017004823.1:c.59768-8T>G (TTN) XP_016860312.1:n.59768-8T>G
XM_024453094.1:c.81263-8T>G (TTN) XP_024308862.1:n.81263-8T>G
XM_024453095.1:c.81260-8T>G (TTN) XP_024308863.1:n.81260-8T>G
XM_024453096.1:c.80693-8T>G (TTN) XP_024308864.1:n.80693-8T>G
XM_024453097.1:c.78035-8T>G (TTN) XP_024308865.1:n.78035-8T>G
XM_024453098.1:c.77954-8T>G (TTN) XP_024308866.1:n.77954-8T>G
XM_024453099.1:c.59717-8T>G (TTN) XP_024308867.1:n.59717-8T>G
XM_024453100.1:c.49571-8T>G (TTN) XP_024308868.1:n.49571-8T>G