Canonical Allele Identifier: CA349648256

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438695C>G (hg19) ; chr2:g.178573968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573968C>G , CM000664.2:g.178573968C>G	GRCh38
NC_000002.11:g.179438695C>G , CM000664.1:g.179438695C>G	GRCh37
NC_000002.10:g.179146941C>G	NCBI36
NG_011618.3:g.261835G>C , LRG_391:g.261835G>C
NG_051363.1:g.56142C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64460G>C (TTN)	ENSP00000343764.6:p.Gly21487Ala
ENST00000342175.11:c.45545G>C (TTN)	ENSP00000340554.6:p.Gly15182Ala
ENST00000359218.10:c.45344G>C (TTN)	ENSP00000352154.5:p.Gly15115Ala
ENST00000342175.10:c.45545G>C (TTN)	ENSP00000340554.6:p.Gly15182Ala
ENST00000342992.10:c.64460G>C (TTN)	ENSP00000343764.6:p.Gly21487Ala
ENST00000359218.9:c.45344G>C (TTN)	ENSP00000352154.5:p.Gly15115Ala
ENST00000460472.6:c.44969G>C (TTN)	ENSP00000434586.1:p.Gly14990Ala
ENST00000589042.5:c.72164G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly24055Ala
ENST00000591111.5:c.67241G>C (TTN)	ENSP00000465570.1:p.Gly22414Ala
ENST00000615779.4:c.67241G>C (TTN)	ENSP00000483597.1:p.Gly22414Ala
NM_001256850.1:c.67241G>C (TTN)	NP_001243779.1:p.Gly22414Ala
NM_001267550.2:c.72164G>C (TTN) MANE Select	NP_001254479.2:p.Gly24055Ala
NM_003319.4:c.44969G>C (TTN)	NP_003310.4:p.Gly14990Ala
NM_133378.4:c.64460G>C (TTN)	NP_596869.4:p.Gly21487Ala
NM_133432.3:c.45344G>C (TTN)	NP_597676.3:p.Gly15115Ala
NM_133437.4:c.45545G>C (TTN)	NP_597681.4:p.Gly15182Ala
NR_038271.1:n.596+2519C>G (TTN-AS1)
NR_038272.1:n.2044-8604C>G (TTN-AS1)
XM_011511729.1:c.71261G>C (TTN)	XP_011510031.1:p.Gly23754Ala
XM_011511730.1:c.45155G>C (TTN)	XP_011510032.1:p.Gly15052Ala
XM_011511731.1:c.45014G>C (TTN)	XP_011510033.1:p.Gly15005Ala
XM_017004819.1:c.71057G>C (TTN)	XP_016860308.1:p.Gly23686Ala
XM_017004820.1:c.66455G>C (TTN)	XP_016860309.1:p.Gly22152Ala
XM_017004821.1:c.66452G>C (TTN)	XP_016860310.1:p.Gly22151Ala
XM_017004822.1:c.63494G>C (TTN)	XP_016860311.1:p.Gly21165Ala
XM_017004823.1:c.45110G>C (TTN)	XP_016860312.1:p.Gly15037Ala
XM_024453094.1:c.66605G>C (TTN)	XP_024308862.1:p.Gly22202Ala
XM_024453095.1:c.66602G>C (TTN)	XP_024308863.1:p.Gly22201Ala
XM_024453096.1:c.66035G>C (TTN)	XP_024308864.1:p.Gly22012Ala
XM_024453097.1:c.63377G>C (TTN)	XP_024308865.1:p.Gly21126Ala
XM_024453098.1:c.63296G>C (TTN)	XP_024308866.1:p.Gly21099Ala
XM_024453099.1:c.45059G>C (TTN)	XP_024308867.1:p.Gly15020Ala
XM_024453100.1:c.34913G>C (TTN)	XP_024308868.1:p.Gly11638Ala