Canonical Allele Identifier: CA1992304
Community Standard Title: NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589910T>C , CM000664.2:g.178589910T>C GRCh38
NC_000002.11:g.179454637T>C , CM000664.1:g.179454637T>C GRCh37
NC_000002.10:g.179162883T>C NCBI36
NG_011618.3:g.245893A>G , LRG_391:g.245893A>G
NG_051363.1:g.72084T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61815A>G (TTN) MANE Select NP_001254479.2:p.Ile20605Met
ENST00000589042.5:c.61815A>G (TTN) MANE Select ENSP00000467141.1:p.Ile20605Met
NM_001256850.1:c.56892A>G (TTN) NP_001243779.1:p.Ile18964Met
NM_003319.4:c.34620A>G (TTN) NP_003310.4:p.Ile11540Met
NM_133378.4:c.54111A>G (TTN) NP_596869.4:p.Ile18037Met
NM_133432.3:c.34995A>G (TTN) NP_597676.3:p.Ile11665Met
NM_133437.4:c.35196A>G (TTN) NP_597681.4:p.Ile11732Met
NR_038271.1:n.597-7686T>C (TTN-AS1)
NR_038272.1:n.3189-1229T>C (TTN-AS1)
ENST00000342175.10:c.35196A>G (TTN) ENSP00000340554.6:p.Ile11732Met
ENST00000342175.11:c.35196A>G (TTN) ENSP00000340554.6:p.Ile11732Met
ENST00000342992.10:c.54111A>G (TTN) ENSP00000343764.6:p.Ile18037Met
ENST00000342992.11:c.54111A>G (TTN) ENSP00000343764.6:p.Ile18037Met
ENST00000359218.10:c.34995A>G (TTN) ENSP00000352154.5:p.Ile11665Met
ENST00000359218.9:c.34995A>G (TTN) ENSP00000352154.5:p.Ile11665Met
ENST00000460472.6:c.34620A>G (TTN) ENSP00000434586.1:p.Ile11540Met
ENST00000591111.5:c.56892A>G (TTN) ENSP00000465570.1:p.Ile18964Met
ENST00000615779.4:c.56892A>G (TTN) ENSP00000483597.1:p.Ile18964Met
XM_011511729.1:c.60912A>G (TTN) XP_011510031.1:p.Ile20304Met
XM_011511730.1:c.34806A>G (TTN) XP_011510032.1:p.Ile11602Met
XM_011511731.1:c.34665A>G (TTN) XP_011510033.1:p.Ile11555Met
XM_017004819.1:c.60708A>G (TTN) XP_016860308.1:p.Ile20236Met
XM_017004820.1:c.56106A>G (TTN) XP_016860309.1:p.Ile18702Met
XM_017004821.1:c.56103A>G (TTN) XP_016860310.1:p.Ile18701Met
XM_017004822.1:c.53145A>G (TTN) XP_016860311.1:p.Ile17715Met
XM_017004823.1:c.34761A>G (TTN) XP_016860312.1:p.Ile11587Met
XM_024453094.1:c.56256A>G (TTN) XP_024308862.1:p.Ile18752Met
XM_024453095.1:c.56253A>G (TTN) XP_024308863.1:p.Ile18751Met
XM_024453096.1:c.55686A>G (TTN) XP_024308864.1:p.Ile18562Met
XM_024453097.1:c.53028A>G (TTN) XP_024308865.1:p.Ile17676Met
XM_024453098.1:c.52947A>G (TTN) XP_024308866.1:p.Ile17649Met
XM_024453099.1:c.34710A>G (TTN) XP_024308867.1:p.Ile11570Met
XM_024453100.1:c.24564A>G (TTN) XP_024308868.1:p.Ile8188Met