Canonical Allele Identifier: CA349621857

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179483409C>T (hg19) ; chr2:g.178618682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618682C>T , CM000664.2:g.178618682C>T	GRCh38
NC_000002.11:g.179483409C>T , CM000664.1:g.179483409C>T	GRCh37
NC_000002.10:g.179191654C>T	NCBI36
NG_011618.3:g.217121G>A , LRG_391:g.217121G>A
NG_051363.1:g.100856C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39164G>A (TTN)	ENSP00000343764.6:p.Arg13055Lys
ENST00000342175.11:c.20249G>A (TTN)	ENSP00000340554.6:p.Arg6750Lys
ENST00000359218.10:c.20048G>A (TTN)	ENSP00000352154.5:p.Arg6683Lys
ENST00000342175.10:c.20249G>A (TTN)	ENSP00000340554.6:p.Arg6750Lys
ENST00000342992.10:c.39164G>A (TTN)	ENSP00000343764.6:p.Arg13055Lys
ENST00000359218.9:c.20048G>A (TTN)	ENSP00000352154.5:p.Arg6683Lys
ENST00000460472.6:c.19673G>A (TTN)	ENSP00000434586.1:p.Arg6558Lys
ENST00000589042.5:c.46868G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg15623Lys
ENST00000591111.5:c.41945G>A (TTN)	ENSP00000465570.1:p.Arg13982Lys
ENST00000615779.4:c.41945G>A (TTN)	ENSP00000483597.1:p.Arg13982Lys
NM_001256850.1:c.41945G>A (TTN)	NP_001243779.1:p.Arg13982Lys
NM_001267550.2:c.46868G>A (TTN) MANE Select	NP_001254479.2:p.Arg15623Lys
NM_003319.4:c.19673G>A (TTN)	NP_003310.4:p.Arg6558Lys
NM_133378.4:c.39164G>A (TTN)	NP_596869.4:p.Arg13055Lys
NM_133432.3:c.20048G>A (TTN)	NP_597676.3:p.Arg6683Lys
NM_133437.4:c.20249G>A (TTN)	NP_597681.4:p.Arg6750Lys
NR_038271.1:n.1605-1071C>T (TTN-AS1)
XM_011511729.1:c.45965G>A (TTN)	XP_011510031.1:p.Arg15322Lys
XM_011511730.1:c.19859G>A (TTN)	XP_011510032.1:p.Arg6620Lys
XM_011511731.1:c.19718G>A (TTN)	XP_011510033.1:p.Arg6573Lys
XM_017004819.1:c.45761G>A (TTN)	XP_016860308.1:p.Arg15254Lys
XM_017004820.1:c.41159G>A (TTN)	XP_016860309.1:p.Arg13720Lys
XM_017004821.1:c.41156G>A (TTN)	XP_016860310.1:p.Arg13719Lys
XM_017004822.1:c.38198G>A (TTN)	XP_016860311.1:p.Arg12733Lys
XM_017004823.1:c.19814G>A (TTN)	XP_016860312.1:p.Arg6605Lys
XM_024453094.1:c.41309G>A (TTN)	XP_024308862.1:p.Arg13770Lys
XM_024453095.1:c.41306G>A (TTN)	XP_024308863.1:p.Arg13769Lys
XM_024453096.1:c.40739G>A (TTN)	XP_024308864.1:p.Arg13580Lys
XM_024453097.1:c.38081G>A (TTN)	XP_024308865.1:p.Arg12694Lys
XM_024453098.1:c.38000G>A (TTN)	XP_024308866.1:p.Arg12667Lys
XM_024453099.1:c.19763G>A (TTN)	XP_024308867.1:p.Arg6588Lys
XM_024453100.1:c.9617G>A (TTN)	XP_024308868.1:p.Arg3206Lys