Canonical Allele Identifier: CA1995718
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 263732
dbSNP Id: rs373298007

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630312C>A , CM000664.2:g.178630312C>A GRCh38
NC_000002.11:g.179495039C>A , CM000664.1:g.179495039C>A GRCh37
NC_000002.10:g.179203284C>A NCBI36
NG_011618.3:g.205491G>T , LRG_391:g.205491G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.17591G>T ENSP00000340554.6:p.Arg5864Leu
ENST00000359218.10:n.17390G>T ENSP00000352154.5:p.Arg5797Leu
ENST00000342175.10:c.17591G>T ENSP00000340554.6:p.Arg5864Leu
ENST00000342992.10:c.36506G>T ENSP00000343764.6:p.Arg12169Leu
ENST00000359218.9:c.17390G>T ENSP00000352154.5:p.Arg5797Leu
ENST00000460472.6:c.17015G>T ENSP00000434586.1:p.Arg5672Leu
ENST00000589042.5:c.44210G>T MANE Select ENSP00000467141.1:p.Arg14737Leu
ENST00000591111.5:c.39287G>T ENSP00000465570.1:p.Arg13096Leu
ENST00000615779.4:c.39287G>T ENSP00000483597.1:p.Arg13096Leu
NM_001256850.1:c.39287G>T NP_001243779.1:p.Arg13096Leu
NM_001267550.2:c.44210G>T MANE Select NP_001254479.2:p.Arg14737Leu
NM_003319.4:c.17015G>T NP_003310.4:p.Arg5672Leu
NM_133378.4:c.36506G>T NP_596869.4:p.Arg12169Leu
NM_133432.3:c.17390G>T NP_597676.3:p.Arg5797Leu
NM_133437.4:c.17591G>T NP_597681.4:p.Arg5864Leu
XM_011511729.1:c.43307G>T XP_011510031.1:p.Arg14436Leu
XM_011511730.1:c.17201G>T XP_011510032.1:p.Arg5734Leu
XM_011511731.1:c.17060G>T XP_011510033.1:p.Arg5687Leu
XM_017004819.1:c.43103G>T XP_016860308.1:p.Arg14368Leu
XM_017004820.1:c.38501G>T XP_016860309.1:p.Arg12834Leu
XM_017004821.1:c.38498G>T XP_016860310.1:p.Arg12833Leu
XM_017004822.1:c.35540G>T XP_016860311.1:p.Arg11847Leu
XM_017004823.1:c.17156G>T XP_016860312.1:p.Arg5719Leu
XM_024453094.1:c.38651G>T XP_024308862.1:p.Arg12884Leu
XM_024453095.1:c.38648G>T XP_024308863.1:p.Arg12883Leu
XM_024453096.1:c.38081G>T XP_024308864.1:p.Arg12694Leu
XM_024453097.1:c.35423G>T XP_024308865.1:p.Arg11808Leu
XM_024453098.1:c.35342G>T XP_024308866.1:p.Arg11781Leu
XM_024453099.1:c.17105G>T XP_024308867.1:p.Arg5702Leu
XM_024453100.1:c.6959G>T XP_024308868.1:p.Arg2320Leu