Canonical Allele Identifier: CA349499851

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457915C>T (hg19) ; chr2:g.178593188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593188C>T , CM000664.2:g.178593188C>T	GRCh38
NC_000002.11:g.179457915C>T , CM000664.1:g.179457915C>T	GRCh37
NC_000002.10:g.179166161C>T	NCBI36
NG_011618.3:g.242615G>A , LRG_391:g.242615G>A
NG_051363.1:g.75362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51316G>A (TTN)	ENSP00000343764.6:p.Ala17106Thr
ENST00000342175.11:c.32401G>A (TTN)	ENSP00000340554.6:p.Ala10801Thr
ENST00000359218.10:c.32200G>A (TTN)	ENSP00000352154.5:p.Ala10734Thr
ENST00000342175.10:c.32401G>A (TTN)	ENSP00000340554.6:p.Ala10801Thr
ENST00000342992.10:c.51316G>A (TTN)	ENSP00000343764.6:p.Ala17106Thr
ENST00000359218.9:c.32200G>A (TTN)	ENSP00000352154.5:p.Ala10734Thr
ENST00000460472.6:c.31825G>A (TTN)	ENSP00000434586.1:p.Ala10609Thr
ENST00000589042.5:c.59020G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala19674Thr
ENST00000591111.5:c.54097G>A (TTN)	ENSP00000465570.1:p.Ala18033Thr
ENST00000615779.4:c.54097G>A (TTN)	ENSP00000483597.1:p.Ala18033Thr
NM_001256850.1:c.54097G>A (TTN)	NP_001243779.1:p.Ala18033Thr
NM_001267550.2:c.59020G>A (TTN) MANE Select	NP_001254479.2:p.Ala19674Thr
NM_003319.4:c.31825G>A (TTN)	NP_003310.4:p.Ala10609Thr
NM_133378.4:c.51316G>A (TTN)	NP_596869.4:p.Ala17106Thr
NM_133432.3:c.32200G>A (TTN)	NP_597676.3:p.Ala10734Thr
NM_133437.4:c.32401G>A (TTN)	NP_597681.4:p.Ala10801Thr
NR_038271.1:n.597-4408C>T (TTN-AS1)
NR_038272.1:n.3364+1874C>T (TTN-AS1)
XM_011511729.1:c.58117G>A (TTN)	XP_011510031.1:p.Ala19373Thr
XM_011511730.1:c.32011G>A (TTN)	XP_011510032.1:p.Ala10671Thr
XM_011511731.1:c.31870G>A (TTN)	XP_011510033.1:p.Ala10624Thr
XM_017004819.1:c.57913G>A (TTN)	XP_016860308.1:p.Ala19305Thr
XM_017004820.1:c.53311G>A (TTN)	XP_016860309.1:p.Ala17771Thr
XM_017004821.1:c.53308G>A (TTN)	XP_016860310.1:p.Ala17770Thr
XM_017004822.1:c.50350G>A (TTN)	XP_016860311.1:p.Ala16784Thr
XM_017004823.1:c.31966G>A (TTN)	XP_016860312.1:p.Ala10656Thr
XM_024453094.1:c.53461G>A (TTN)	XP_024308862.1:p.Ala17821Thr
XM_024453095.1:c.53458G>A (TTN)	XP_024308863.1:p.Ala17820Thr
XM_024453096.1:c.52891G>A (TTN)	XP_024308864.1:p.Ala17631Thr
XM_024453097.1:c.50233G>A (TTN)	XP_024308865.1:p.Ala16745Thr
XM_024453098.1:c.50152G>A (TTN)	XP_024308866.1:p.Ala16718Thr
XM_024453099.1:c.31915G>A (TTN)	XP_024308867.1:p.Ala10639Thr
XM_024453100.1:c.21769G>A (TTN)	XP_024308868.1:p.Ala7257Thr