Canonical Allele Identifier: CA349488773

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456717A>T (hg19) ; chr2:g.178591990A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591990A>T , CM000664.2:g.178591990A>T	GRCh38
NC_000002.11:g.179456717A>T , CM000664.1:g.179456717A>T	GRCh37
NC_000002.10:g.179164963A>T	NCBI36
NG_011618.3:g.243813T>A , LRG_391:g.243813T>A
NG_051363.1:g.74164A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52210T>A (TTN)	ENSP00000343764.6:p.Leu17404Met
ENST00000342175.11:c.33295T>A (TTN)	ENSP00000340554.6:p.Leu11099Met
ENST00000359218.10:c.33094T>A (TTN)	ENSP00000352154.5:p.Leu11032Met
ENST00000342175.10:c.33295T>A (TTN)	ENSP00000340554.6:p.Leu11099Met
ENST00000342992.10:c.52210T>A (TTN)	ENSP00000343764.6:p.Leu17404Met
ENST00000359218.9:c.33094T>A (TTN)	ENSP00000352154.5:p.Leu11032Met
ENST00000460472.6:c.32719T>A (TTN)	ENSP00000434586.1:p.Leu10907Met
ENST00000589042.5:c.59914T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu19972Met
ENST00000591111.5:c.54991T>A (TTN)	ENSP00000465570.1:p.Leu18331Met
ENST00000615779.4:c.54991T>A (TTN)	ENSP00000483597.1:p.Leu18331Met
NM_001256850.1:c.54991T>A (TTN)	NP_001243779.1:p.Leu18331Met
NM_001267550.2:c.59914T>A (TTN) MANE Select	NP_001254479.2:p.Leu19972Met
NM_003319.4:c.32719T>A (TTN)	NP_003310.4:p.Leu10907Met
NM_133378.4:c.52210T>A (TTN)	NP_596869.4:p.Leu17404Met
NM_133432.3:c.33094T>A (TTN)	NP_597676.3:p.Leu11032Met
NM_133437.4:c.33295T>A (TTN)	NP_597681.4:p.Leu11099Met
NR_038271.1:n.597-5606A>T (TTN-AS1)
NR_038272.1:n.3364+676A>T (TTN-AS1)
XM_011511729.1:c.59011T>A (TTN)	XP_011510031.1:p.Leu19671Met
XM_011511730.1:c.32905T>A (TTN)	XP_011510032.1:p.Leu10969Met
XM_011511731.1:c.32764T>A (TTN)	XP_011510033.1:p.Leu10922Met
XM_017004819.1:c.58807T>A (TTN)	XP_016860308.1:p.Leu19603Met
XM_017004820.1:c.54205T>A (TTN)	XP_016860309.1:p.Leu18069Met
XM_017004821.1:c.54202T>A (TTN)	XP_016860310.1:p.Leu18068Met
XM_017004822.1:c.51244T>A (TTN)	XP_016860311.1:p.Leu17082Met
XM_017004823.1:c.32860T>A (TTN)	XP_016860312.1:p.Leu10954Met
XM_024453094.1:c.54355T>A (TTN)	XP_024308862.1:p.Leu18119Met
XM_024453095.1:c.54352T>A (TTN)	XP_024308863.1:p.Leu18118Met
XM_024453096.1:c.53785T>A (TTN)	XP_024308864.1:p.Leu17929Met
XM_024453097.1:c.51127T>A (TTN)	XP_024308865.1:p.Leu17043Met
XM_024453098.1:c.51046T>A (TTN)	XP_024308866.1:p.Leu17016Met
XM_024453099.1:c.32809T>A (TTN)	XP_024308867.1:p.Leu10937Met
XM_024453100.1:c.22663T>A (TTN)	XP_024308868.1:p.Leu7555Met