Canonical Allele Identifier: CA1996876

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178652518C>A , CM000664.2:g.178652518C>A	GRCh38
NC_000002.11:g.179517245C>A , CM000664.1:g.179517245C>A	GRCh37
NC_000002.10:g.179225490C>A	NCBI36
NG_011618.3:g.183285G>T , LRG_391:g.183285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31765G>T	ENSP00000343764.6:p.Val10589Phe
ENST00000342175.11:c.13859-10201G>T	ENSP00000340554.6:n.13859-10201G>T
ENST00000359218.10:c.13658-10201G>T	ENSP00000352154.5:n.13658-10201G>T
ENST00000342175.10:c.13859-10201G>T	ENSP00000340554.6:n.13859-10201G>T
ENST00000342992.10:c.31765G>T	ENSP00000343764.6:p.Val10589Phe
ENST00000359218.9:c.13658-10201G>T	ENSP00000352154.5:n.13658-10201G>T
ENST00000414766.5:c.2441-10201G>T	ENSP00000401501.1:n.2441-10201G>T
ENST00000460472.6:c.13283-10201G>T	ENSP00000434586.1:n.13283-10201G>T
ENST00000589042.5:c.39067G>T MANE Select	ENSP00000467141.1:p.Val13023Phe
ENST00000591111.5:c.34546G>T	ENSP00000465570.1:p.Val11516Phe
ENST00000615779.4:c.34546G>T	ENSP00000483597.1:p.Val11516Phe
NM_001256850.1:c.34546G>T	NP_001243779.1:p.Val11516Phe
NM_001267550.2:c.39067G>T MANE Select	NP_001254479.2:p.Val13023Phe
NM_003319.4:c.13283-10201G>T	NP_003310.4:n.13283-10201G>T
NM_133378.4:c.31765G>T	NP_596869.4:p.Val10589Phe
NM_133432.3:c.13658-10201G>T	NP_597676.3:n.13658-10201G>T
NM_133437.4:c.13859-10201G>T	NP_597681.4:n.13859-10201G>T
XM_011511729.1:c.38164G>T	XP_011510031.1:p.Val12722Phe
XM_011511730.1:c.13469-10201G>T	XP_011510032.1:n.13469-10201G>T
XM_011511731.1:c.13328-10201G>T	XP_011510033.1:n.13328-10201G>T
XM_017004819.1:c.37960G>T	XP_016860308.1:p.Val12654Phe
XM_017004820.1:c.33358G>T	XP_016860309.1:p.Val11120Phe
XM_017004821.1:c.33355G>T	XP_016860310.1:p.Val11119Phe
XM_017004822.1:c.31859-10201G>T	XP_016860311.1:n.31859-10201G>T
XM_017004823.1:c.13424-10201G>T	XP_016860312.1:n.13424-10201G>T
XM_024453094.1:c.33569-171G>T	XP_024308862.1:n.33569-171G>T
XM_024453095.1:c.33566-171G>T	XP_024308863.1:n.33566-171G>T
XM_024453096.1:c.32999-171G>T	XP_024308864.1:n.32999-171G>T
XM_024453097.1:c.31691-10201G>T	XP_024308865.1:n.31691-10201G>T
XM_024453098.1:c.31610-10201G>T	XP_024308866.1:n.31610-10201G>T
XM_024453099.1:c.13424-10201G>T	XP_024308867.1:n.13424-10201G>T
XM_024453100.1:c.1816G>T	XP_024308868.1:p.Val606Phe