Canonical Allele Identifier: CA349500125

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457953C>G (hg19) ; chr2:g.178593226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593226C>G , CM000664.2:g.178593226C>G	GRCh38
NC_000002.11:g.179457953C>G , CM000664.1:g.179457953C>G	GRCh37
NC_000002.10:g.179166199C>G	NCBI36
NG_011618.3:g.242577G>C , LRG_391:g.242577G>C
NG_051363.1:g.75400C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51278G>C (TTN)	ENSP00000343764.6:p.Gly17093Ala
ENST00000342175.11:c.32363G>C (TTN)	ENSP00000340554.6:p.Gly10788Ala
ENST00000359218.10:c.32162G>C (TTN)	ENSP00000352154.5:p.Gly10721Ala
ENST00000342175.10:c.32363G>C (TTN)	ENSP00000340554.6:p.Gly10788Ala
ENST00000342992.10:c.51278G>C (TTN)	ENSP00000343764.6:p.Gly17093Ala
ENST00000359218.9:c.32162G>C (TTN)	ENSP00000352154.5:p.Gly10721Ala
ENST00000460472.6:c.31787G>C (TTN)	ENSP00000434586.1:p.Gly10596Ala
ENST00000589042.5:c.58982G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly19661Ala
ENST00000591111.5:c.54059G>C (TTN)	ENSP00000465570.1:p.Gly18020Ala
ENST00000615779.4:c.54059G>C (TTN)	ENSP00000483597.1:p.Gly18020Ala
NM_001256850.1:c.54059G>C (TTN)	NP_001243779.1:p.Gly18020Ala
NM_001267550.2:c.58982G>C (TTN) MANE Select	NP_001254479.2:p.Gly19661Ala
NM_003319.4:c.31787G>C (TTN)	NP_003310.4:p.Gly10596Ala
NM_133378.4:c.51278G>C (TTN)	NP_596869.4:p.Gly17093Ala
NM_133432.3:c.32162G>C (TTN)	NP_597676.3:p.Gly10721Ala
NM_133437.4:c.32363G>C (TTN)	NP_597681.4:p.Gly10788Ala
NR_038271.1:n.597-4370C>G (TTN-AS1)
NR_038272.1:n.3364+1912C>G (TTN-AS1)
XM_011511729.1:c.58079G>C (TTN)	XP_011510031.1:p.Gly19360Ala
XM_011511730.1:c.31973G>C (TTN)	XP_011510032.1:p.Gly10658Ala
XM_011511731.1:c.31832G>C (TTN)	XP_011510033.1:p.Gly10611Ala
XM_017004819.1:c.57875G>C (TTN)	XP_016860308.1:p.Gly19292Ala
XM_017004820.1:c.53273G>C (TTN)	XP_016860309.1:p.Gly17758Ala
XM_017004821.1:c.53270G>C (TTN)	XP_016860310.1:p.Gly17757Ala
XM_017004822.1:c.50312G>C (TTN)	XP_016860311.1:p.Gly16771Ala
XM_017004823.1:c.31928G>C (TTN)	XP_016860312.1:p.Gly10643Ala
XM_024453094.1:c.53423G>C (TTN)	XP_024308862.1:p.Gly17808Ala
XM_024453095.1:c.53420G>C (TTN)	XP_024308863.1:p.Gly17807Ala
XM_024453096.1:c.52853G>C (TTN)	XP_024308864.1:p.Gly17618Ala
XM_024453097.1:c.50195G>C (TTN)	XP_024308865.1:p.Gly16732Ala
XM_024453098.1:c.50114G>C (TTN)	XP_024308866.1:p.Gly16705Ala
XM_024453099.1:c.31877G>C (TTN)	XP_024308867.1:p.Gly10626Ala
XM_024453100.1:c.21731G>C (TTN)	XP_024308868.1:p.Gly7244Ala