Canonical Allele Identifier: CA1139657462

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624451A>G , CM000664.2:g.178624451A>G	GRCh38
NC_000002.11:g.179489178A>G , CM000664.1:g.179489178A>G	GRCh37
NC_000002.10:g.179197423A>G	NCBI36
NG_011618.3:g.211352T>C , LRG_391:g.211352T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.44815+14T>C MANE Select	NP_001254479.2:n.44815+14T>C
ENST00000589042.5:c.44815+14T>C MANE Select	ENSP00000467141.1:n.44815+14T>C
NM_001256850.1:c.39892+14T>C	NP_001243779.1:n.39892+14T>C
NM_003319.4:c.17620+14T>C	NP_003310.4:n.17620+14T>C
NM_133378.4:c.37111+14T>C	NP_596869.4:n.37111+14T>C
NM_133432.3:c.17995+14T>C	NP_597676.3:n.17995+14T>C
NM_133437.4:c.18196+14T>C	NP_597681.4:n.18196+14T>C
ENST00000342175.10:c.18196+14T>C	ENSP00000340554.6:n.18196+14T>C
ENST00000342175.11:c.18196+14T>C	ENSP00000340554.6:n.18196+14T>C
ENST00000342992.10:c.37111+14T>C	ENSP00000343764.6:n.37111+14T>C
ENST00000342992.11:c.37111+14T>C	ENSP00000343764.6:n.37111+14T>C
ENST00000359218.10:c.17995+14T>C	ENSP00000352154.5:n.17995+14T>C
ENST00000359218.9:c.17995+14T>C	ENSP00000352154.5:n.17995+14T>C
ENST00000460472.6:c.17620+14T>C	ENSP00000434586.1:n.17620+14T>C
ENST00000591111.5:c.39892+14T>C	ENSP00000465570.1:n.39892+14T>C
ENST00000615779.4:c.39892+14T>C	ENSP00000483597.1:n.39892+14T>C
XM_011511729.1:c.43912+14T>C	XP_011510031.1:n.43912+14T>C
XM_011511730.1:c.17806+14T>C	XP_011510032.1:n.17806+14T>C
XM_011511731.1:c.17665+14T>C	XP_011510033.1:n.17665+14T>C
XM_017004819.1:c.43708+14T>C	XP_016860308.1:n.43708+14T>C
XM_017004820.1:c.39106+14T>C	XP_016860309.1:n.39106+14T>C
XM_017004821.1:c.39103+14T>C	XP_016860310.1:n.39103+14T>C
XM_017004822.1:c.36145+14T>C	XP_016860311.1:n.36145+14T>C
XM_017004823.1:c.17761+14T>C	XP_016860312.1:n.17761+14T>C
XM_024453094.1:c.39256+14T>C	XP_024308862.1:n.39256+14T>C
XM_024453095.1:c.39253+14T>C	XP_024308863.1:n.39253+14T>C
XM_024453096.1:c.38686+14T>C	XP_024308864.1:n.38686+14T>C
XM_024453097.1:c.36028+14T>C	XP_024308865.1:n.36028+14T>C
XM_024453098.1:c.35947+14T>C	XP_024308866.1:n.35947+14T>C
XM_024453099.1:c.17710+14T>C	XP_024308867.1:n.17710+14T>C
XM_024453100.1:c.7564+14T>C	XP_024308868.1:n.7564+14T>C