Canonical Allele Identifier: CA349636464

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179436985A>T (hg19) ; chr2:g.178572258A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572258A>T , CM000664.2:g.178572258A>T	GRCh38
NC_000002.11:g.179436985A>T , CM000664.1:g.179436985A>T	GRCh37
NC_000002.10:g.179145231A>T	NCBI36
NG_011618.3:g.263545T>A , LRG_391:g.263545T>A
NG_051363.1:g.54432A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.66170T>A (TTN)	ENSP00000343764.6:p.Leu22057Ter
ENST00000342175.11:c.47255T>A (TTN)	ENSP00000340554.6:p.Leu15752Ter
ENST00000359218.10:c.47054T>A (TTN)	ENSP00000352154.5:p.Leu15685Ter
ENST00000342175.10:c.47255T>A (TTN)	ENSP00000340554.6:p.Leu15752Ter
ENST00000342992.10:c.66170T>A (TTN)	ENSP00000343764.6:p.Leu22057Ter
ENST00000359218.9:c.47054T>A (TTN)	ENSP00000352154.5:p.Leu15685Ter
ENST00000460472.6:c.46679T>A (TTN)	ENSP00000434586.1:p.Leu15560Ter
ENST00000589042.5:c.73874T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu24625Ter
ENST00000591111.5:c.68951T>A (TTN)	ENSP00000465570.1:p.Leu22984Ter
ENST00000615779.4:c.68951T>A (TTN)	ENSP00000483597.1:p.Leu22984Ter
NM_001256850.1:c.68951T>A (TTN)	NP_001243779.1:p.Leu22984Ter
NM_001267550.2:c.73874T>A (TTN) MANE Select	NP_001254479.2:p.Leu24625Ter
NM_003319.4:c.46679T>A (TTN)	NP_003310.4:p.Leu15560Ter
NM_133378.4:c.66170T>A (TTN)	NP_596869.4:p.Leu22057Ter
NM_133432.3:c.47054T>A (TTN)	NP_597676.3:p.Leu15685Ter
NM_133437.4:c.47255T>A (TTN)	NP_597681.4:p.Leu15752Ter
NR_038271.1:n.596+809A>T (TTN-AS1)
NR_038272.1:n.2044-10314A>T (TTN-AS1)
XM_011511729.1:c.72971T>A (TTN)	XP_011510031.1:p.Leu24324Ter
XM_011511730.1:c.46865T>A (TTN)	XP_011510032.1:p.Leu15622Ter
XM_011511731.1:c.46724T>A (TTN)	XP_011510033.1:p.Leu15575Ter
XM_017004819.1:c.72767T>A (TTN)	XP_016860308.1:p.Leu24256Ter
XM_017004820.1:c.68165T>A (TTN)	XP_016860309.1:p.Leu22722Ter
XM_017004821.1:c.68162T>A (TTN)	XP_016860310.1:p.Leu22721Ter
XM_017004822.1:c.65204T>A (TTN)	XP_016860311.1:p.Leu21735Ter
XM_017004823.1:c.46820T>A (TTN)	XP_016860312.1:p.Leu15607Ter
XM_024453094.1:c.68315T>A (TTN)	XP_024308862.1:p.Leu22772Ter
XM_024453095.1:c.68312T>A (TTN)	XP_024308863.1:p.Leu22771Ter
XM_024453096.1:c.67745T>A (TTN)	XP_024308864.1:p.Leu22582Ter
XM_024453097.1:c.65087T>A (TTN)	XP_024308865.1:p.Leu21696Ter
XM_024453098.1:c.65006T>A (TTN)	XP_024308866.1:p.Leu21669Ter
XM_024453099.1:c.46769T>A (TTN)	XP_024308867.1:p.Leu15590Ter
XM_024453100.1:c.36623T>A (TTN)	XP_024308868.1:p.Leu12208Ter