Canonical Allele Identifier: CA1996150
Community Standard Title: NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634828C>G , CM000664.2:g.178634828C>G GRCh38
NC_000002.11:g.179499555C>G , CM000664.1:g.179499555C>G GRCh37
NC_000002.10:g.179207800C>G NCBI36
NG_011618.3:g.200975G>C , LRG_391:g.200975G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42046G>C MANE Select NP_001254479.2:p.Gly14016Arg
ENST00000589042.5:c.42046G>C MANE Select ENSP00000467141.1:p.Gly14016Arg
NM_001256850.1:c.37123G>C NP_001243779.1:p.Gly12375Arg
NM_003319.4:c.14851G>C NP_003310.4:p.Gly4951Arg
NM_133378.4:c.34342G>C NP_596869.4:p.Gly11448Arg
NM_133432.3:c.15226G>C NP_597676.3:p.Gly5076Arg
NM_133437.4:c.15427G>C NP_597681.4:p.Gly5143Arg
ENST00000342175.10:c.15427G>C ENSP00000340554.6:p.Gly5143Arg
ENST00000342175.11:c.15427G>C ENSP00000340554.6:p.Gly5143Arg
ENST00000342992.10:c.34342G>C ENSP00000343764.6:p.Gly11448Arg
ENST00000342992.11:c.34342G>C ENSP00000343764.6:p.Gly11448Arg
ENST00000359218.10:c.15226G>C ENSP00000352154.5:p.Gly5076Arg
ENST00000359218.9:c.15226G>C ENSP00000352154.5:p.Gly5076Arg
ENST00000460472.6:c.14851G>C ENSP00000434586.1:p.Gly4951Arg
ENST00000591111.5:c.37123G>C ENSP00000465570.1:p.Gly12375Arg
ENST00000615779.4:c.37123G>C ENSP00000483597.1:p.Gly12375Arg
XM_011511729.1:c.41143G>C XP_011510031.1:p.Gly13715Arg
XM_011511730.1:c.15037G>C XP_011510032.1:p.Gly5013Arg
XM_011511731.1:c.14896G>C XP_011510033.1:p.Gly4966Arg
XM_017004819.1:c.40939G>C XP_016860308.1:p.Gly13647Arg
XM_017004820.1:c.36337G>C XP_016860309.1:p.Gly12113Arg
XM_017004821.1:c.36334G>C XP_016860310.1:p.Gly12112Arg
XM_017004822.1:c.33376G>C XP_016860311.1:p.Gly11126Arg
XM_017004823.1:c.14992G>C XP_016860312.1:p.Gly4998Arg
XM_024453094.1:c.36487G>C XP_024308862.1:p.Gly12163Arg
XM_024453095.1:c.36484G>C XP_024308863.1:p.Gly12162Arg
XM_024453096.1:c.35917G>C XP_024308864.1:p.Gly11973Arg
XM_024453097.1:c.33259G>C XP_024308865.1:p.Gly11087Arg
XM_024453098.1:c.33178G>C XP_024308866.1:p.Gly11060Arg
XM_024453099.1:c.14941G>C XP_024308867.1:p.Gly4981Arg
XM_024453100.1:c.4795G>C XP_024308868.1:p.Gly1599Arg