Canonical Allele Identifier: CA61010406

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178642287A>C , CM000664.2:g.178642287A>C	GRCh38
NC_000002.11:g.179507014A>C , CM000664.1:g.179507014A>C	GRCh37
NC_000002.10:g.179215259A>C	NCBI36
NG_011618.3:g.193516T>G , LRG_391:g.193516T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.40508T>G MANE Select	NP_001254479.2:p.Leu13503Ter
ENST00000589042.5:c.40508T>G MANE Select	ENSP00000467141.1:p.Leu13503Ter
NM_001256850.1:c.35585T>G	NP_001243779.1:p.Leu11862Ter
NM_003319.4:c.13313T>G	NP_003310.4:p.Leu4438Ter
NM_133378.4:c.32804T>G	NP_596869.4:p.Leu10935Ter
NM_133432.3:c.13688T>G	NP_597676.3:p.Leu4563Ter
NM_133437.4:c.13889T>G	NP_597681.4:p.Leu4630Ter
ENST00000342175.10:c.13889T>G	ENSP00000340554.6:p.Leu4630Ter
ENST00000342175.11:c.13889T>G	ENSP00000340554.6:p.Leu4630Ter
ENST00000342992.10:c.32804T>G	ENSP00000343764.6:p.Leu10935Ter
ENST00000342992.11:c.32804T>G	ENSP00000343764.6:p.Leu10935Ter
ENST00000359218.10:c.13688T>G	ENSP00000352154.5:p.Leu4563Ter
ENST00000359218.9:c.13688T>G	ENSP00000352154.5:p.Leu4563Ter
ENST00000414766.5:c.2471T>G	ENSP00000401501.1:p.Leu824Ter
ENST00000426232.5:c.597-1657T>G
ENST00000446966.1:c.995-1657T>G	ENSP00000408004.1:n.995-1657T>G
ENST00000460472.6:c.13313T>G	ENSP00000434586.1:p.Leu4438Ter
ENST00000591111.5:c.35585T>G	ENSP00000465570.1:p.Leu11862Ter
ENST00000615779.4:c.35585T>G	ENSP00000483597.1:p.Leu11862Ter
XM_011511729.1:c.39605T>G	XP_011510031.1:p.Leu13202Ter
XM_011511730.1:c.13499T>G	XP_011510032.1:p.Leu4500Ter
XM_011511731.1:c.13358T>G	XP_011510033.1:p.Leu4453Ter
XM_017004819.1:c.39401T>G	XP_016860308.1:p.Leu13134Ter
XM_017004820.1:c.34799T>G	XP_016860309.1:p.Leu11600Ter
XM_017004821.1:c.34796T>G	XP_016860310.1:p.Leu11599Ter
XM_017004822.1:c.31889T>G	XP_016860311.1:p.Leu10630Ter
XM_017004823.1:c.13454T>G	XP_016860312.1:p.Leu4485Ter
XM_024453094.1:c.34949T>G	XP_024308862.1:p.Leu11650Ter
XM_024453095.1:c.34946T>G	XP_024308863.1:p.Leu11649Ter
XM_024453096.1:c.34379T>G	XP_024308864.1:p.Leu11460Ter
XM_024453097.1:c.31721T>G	XP_024308865.1:p.Leu10574Ter
XM_024453098.1:c.31640T>G	XP_024308866.1:p.Leu10547Ter
XM_024453099.1:c.13454T>G	XP_024308867.1:p.Leu4485Ter
XM_024453100.1:c.3257T>G	XP_024308868.1:p.Leu1086Ter