Canonical Allele Identifier: CA349435495

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449215C>A (hg19) ; chr2:g.178584488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584488C>A , CM000664.2:g.178584488C>A	GRCh38
NC_000002.11:g.179449215C>A , CM000664.1:g.179449215C>A	GRCh37
NC_000002.10:g.179157461C>A	NCBI36
NG_011618.3:g.251315G>T , LRG_391:g.251315G>T
NG_051363.1:g.66662C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57359G>T (TTN)	ENSP00000343764.6:p.Gly19120Val
ENST00000342175.11:c.38444G>T (TTN)	ENSP00000340554.6:p.Gly12815Val
ENST00000359218.10:c.38243G>T (TTN)	ENSP00000352154.5:p.Gly12748Val
ENST00000342175.10:c.38444G>T (TTN)	ENSP00000340554.6:p.Gly12815Val
ENST00000342992.10:c.57359G>T (TTN)	ENSP00000343764.6:p.Gly19120Val
ENST00000359218.9:c.38243G>T (TTN)	ENSP00000352154.5:p.Gly12748Val
ENST00000460472.6:c.37868G>T (TTN)	ENSP00000434586.1:p.Gly12623Val
ENST00000589042.5:c.65063G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly21688Val
ENST00000591111.5:c.60140G>T (TTN)	ENSP00000465570.1:p.Gly20047Val
ENST00000615779.4:c.60140G>T (TTN)	ENSP00000483597.1:p.Gly20047Val
NM_001256850.1:c.60140G>T (TTN)	NP_001243779.1:p.Gly20047Val
NM_001267550.2:c.65063G>T (TTN) MANE Select	NP_001254479.2:p.Gly21688Val
NM_003319.4:c.37868G>T (TTN)	NP_003310.4:p.Gly12623Val
NM_133378.4:c.57359G>T (TTN)	NP_596869.4:p.Gly19120Val
NM_133432.3:c.38243G>T (TTN)	NP_597676.3:p.Gly12748Val
NM_133437.4:c.38444G>T (TTN)	NP_597681.4:p.Gly12815Val
NR_038271.1:n.596+13039C>A (TTN-AS1)
NR_038272.1:n.2768-85C>A (TTN-AS1)
XM_011511729.1:c.64160G>T (TTN)	XP_011510031.1:p.Gly21387Val
XM_011511730.1:c.38054G>T (TTN)	XP_011510032.1:p.Gly12685Val
XM_011511731.1:c.37913G>T (TTN)	XP_011510033.1:p.Gly12638Val
XM_017004819.1:c.63956G>T (TTN)	XP_016860308.1:p.Gly21319Val
XM_017004820.1:c.59354G>T (TTN)	XP_016860309.1:p.Gly19785Val
XM_017004821.1:c.59351G>T (TTN)	XP_016860310.1:p.Gly19784Val
XM_017004822.1:c.56393G>T (TTN)	XP_016860311.1:p.Gly18798Val
XM_017004823.1:c.38009G>T (TTN)	XP_016860312.1:p.Gly12670Val
XM_024453094.1:c.59504G>T (TTN)	XP_024308862.1:p.Gly19835Val
XM_024453095.1:c.59501G>T (TTN)	XP_024308863.1:p.Gly19834Val
XM_024453096.1:c.58934G>T (TTN)	XP_024308864.1:p.Gly19645Val
XM_024453097.1:c.56276G>T (TTN)	XP_024308865.1:p.Gly18759Val
XM_024453098.1:c.56195G>T (TTN)	XP_024308866.1:p.Gly18732Val
XM_024453099.1:c.37958G>T (TTN)	XP_024308867.1:p.Gly12653Val
XM_024453100.1:c.27812G>T (TTN)	XP_024308868.1:p.Gly9271Val