Canonical Allele Identifier: CA1989234
Community Standard Title: NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564882T>C , CM000664.2:g.178564882T>C GRCh38
NC_000002.11:g.179429609T>C , CM000664.1:g.179429609T>C GRCh37
NC_000002.10:g.179137855T>C NCBI36
NG_011618.3:g.270921A>G , LRG_391:g.270921A>G
NG_051363.1:g.47056T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81250A>G (TTN) MANE Select NP_001254479.2:p.Ile27084Val
ENST00000589042.5:c.81250A>G (TTN) MANE Select ENSP00000467141.1:p.Ile27084Val
NM_001256850.1:c.76327A>G (TTN) NP_001243779.1:p.Ile25443Val
NM_003319.4:c.54055A>G (TTN) NP_003310.4:p.Ile18019Val
NM_133378.4:c.73546A>G (TTN) NP_596869.4:p.Ile24516Val
NM_133432.3:c.54430A>G (TTN) NP_597676.3:p.Ile18144Val
NM_133437.4:c.54631A>G (TTN) NP_597681.4:p.Ile18211Val
NR_038271.1:n.447-6418T>C (TTN-AS1)
NR_038272.1:n.2044-17690T>C (TTN-AS1)
ENST00000342175.10:c.54631A>G (TTN) ENSP00000340554.6:p.Ile18211Val
ENST00000342175.11:c.54631A>G (TTN) ENSP00000340554.6:p.Ile18211Val
ENST00000342992.10:c.73546A>G (TTN) ENSP00000343764.6:p.Ile24516Val
ENST00000342992.11:c.73546A>G (TTN) ENSP00000343764.6:p.Ile24516Val
ENST00000359218.10:c.54430A>G (TTN) ENSP00000352154.5:p.Ile18144Val
ENST00000359218.9:c.54430A>G (TTN) ENSP00000352154.5:p.Ile18144Val
ENST00000460472.6:c.54055A>G (TTN) ENSP00000434586.1:p.Ile18019Val
ENST00000591111.5:c.76327A>G (TTN) ENSP00000465570.1:p.Ile25443Val
ENST00000615779.4:c.76327A>G (TTN) ENSP00000483597.1:p.Ile25443Val
XM_011511729.1:c.80347A>G (TTN) XP_011510031.1:p.Ile26783Val
XM_011511730.1:c.54241A>G (TTN) XP_011510032.1:p.Ile18081Val
XM_011511731.1:c.54100A>G (TTN) XP_011510033.1:p.Ile18034Val
XM_017004819.1:c.80143A>G (TTN) XP_016860308.1:p.Ile26715Val
XM_017004820.1:c.75541A>G (TTN) XP_016860309.1:p.Ile25181Val
XM_017004821.1:c.75538A>G (TTN) XP_016860310.1:p.Ile25180Val
XM_017004822.1:c.72580A>G (TTN) XP_016860311.1:p.Ile24194Val
XM_017004823.1:c.54196A>G (TTN) XP_016860312.1:p.Ile18066Val
XM_024453094.1:c.75691A>G (TTN) XP_024308862.1:p.Ile25231Val
XM_024453095.1:c.75688A>G (TTN) XP_024308863.1:p.Ile25230Val
XM_024453096.1:c.75121A>G (TTN) XP_024308864.1:p.Ile25041Val
XM_024453097.1:c.72463A>G (TTN) XP_024308865.1:p.Ile24155Val
XM_024453098.1:c.72382A>G (TTN) XP_024308866.1:p.Ile24128Val
XM_024453099.1:c.54145A>G (TTN) XP_024308867.1:p.Ile18049Val
XM_024453100.1:c.43999A>G (TTN) XP_024308868.1:p.Ile14667Val