Canonical Allele Identifier: CA1999759
Community Standard Title: NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178712205T>C , CM000664.2:g.178712205T>C GRCh38
NC_000002.11:g.179576932T>C , CM000664.1:g.179576932T>C GRCh37
NC_000002.10:g.179285177T>C NCBI36
NG_011618.3:g.123598A>G , LRG_391:g.123598A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.27625A>G MANE Select NP_001254479.2:p.Lys9209Glu
ENST00000589042.5:c.27625A>G MANE Select ENSP00000467141.1:p.Lys9209Glu
NM_001256850.1:c.26674A>G NP_001243779.1:p.Lys8892Glu
NM_003319.4:c.13282+25877A>G NP_003310.4:n.13282+25877A>G
NM_133378.4:c.23893A>G NP_596869.4:p.Lys7965Glu
NM_133432.3:c.13657+25877A>G NP_597676.3:n.13657+25877A>G
NM_133437.4:c.13858+25877A>G NP_597681.4:n.13858+25877A>G
ENST00000342175.10:c.13858+25877A>G ENSP00000340554.6:n.13858+25877A>G
ENST00000342175.11:c.13858+25877A>G ENSP00000340554.6:n.13858+25877A>G
ENST00000342992.10:c.23893A>G ENSP00000343764.6:p.Lys7965Glu
ENST00000342992.11:c.23893A>G ENSP00000343764.6:p.Lys7965Glu
ENST00000359218.10:c.13657+25877A>G ENSP00000352154.5:n.13657+25877A>G
ENST00000359218.9:c.13657+25877A>G ENSP00000352154.5:n.13657+25877A>G
ENST00000460472.6:c.13282+25877A>G ENSP00000434586.1:n.13282+25877A>G
ENST00000591111.5:c.26674A>G ENSP00000465570.1:p.Lys8892Glu
ENST00000615779.4:c.26674A>G ENSP00000483597.1:p.Lys8892Glu
XM_011511729.1:c.26722A>G XP_011510031.1:p.Lys8908Glu
XM_011511730.1:c.13468+25877A>G XP_011510032.1:n.13468+25877A>G
XM_011511731.1:c.13327+25877A>G XP_011510033.1:n.13327+25877A>G
XM_017004819.1:c.26677A>G XP_016860308.1:p.Lys8893Glu
XM_017004820.1:c.23896A>G XP_016860309.1:p.Lys7966Glu
XM_017004821.1:c.23893A>G XP_016860310.1:p.Lys7965Glu
XM_017004822.1:c.26677A>G XP_016860311.1:p.Lys8893Glu
XM_017004823.1:c.13423+25877A>G XP_016860312.1:n.13423+25877A>G
XM_024453094.1:c.26677A>G XP_024308862.1:p.Lys8893Glu
XM_024453095.1:c.26677A>G XP_024308863.1:p.Lys8893Glu
XM_024453096.1:c.26677A>G XP_024308864.1:p.Lys8893Glu
XM_024453097.1:c.26677A>G XP_024308865.1:p.Lys8893Glu
XM_024453098.1:c.26677A>G XP_024308866.1:p.Lys8893Glu
XM_024453099.1:c.13423+25877A>G XP_024308867.1:n.13423+25877A>G