Canonical Allele Identifier: CA349657896

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439530A>C (hg19) ; chr2:g.178574803A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574803A>C , CM000664.2:g.178574803A>C	GRCh38
NC_000002.11:g.179439530A>C , CM000664.1:g.179439530A>C	GRCh37
NC_000002.10:g.179147776A>C	NCBI36
NG_011618.3:g.261000T>G , LRG_391:g.261000T>G
NG_051363.1:g.56977A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63625T>G (TTN)	ENSP00000343764.6:p.Leu21209Val
ENST00000342175.11:c.44710T>G (TTN)	ENSP00000340554.6:p.Leu14904Val
ENST00000359218.10:c.44509T>G (TTN)	ENSP00000352154.5:p.Leu14837Val
ENST00000342175.10:c.44710T>G (TTN)	ENSP00000340554.6:p.Leu14904Val
ENST00000342992.10:c.63625T>G (TTN)	ENSP00000343764.6:p.Leu21209Val
ENST00000359218.9:c.44509T>G (TTN)	ENSP00000352154.5:p.Leu14837Val
ENST00000460472.6:c.44134T>G (TTN)	ENSP00000434586.1:p.Leu14712Val
ENST00000589042.5:c.71329T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu23777Val
ENST00000591111.5:c.66406T>G (TTN)	ENSP00000465570.1:p.Leu22136Val
ENST00000615779.4:c.66406T>G (TTN)	ENSP00000483597.1:p.Leu22136Val
NM_001256850.1:c.66406T>G (TTN)	NP_001243779.1:p.Leu22136Val
NM_001267550.2:c.71329T>G (TTN) MANE Select	NP_001254479.2:p.Leu23777Val
NM_003319.4:c.44134T>G (TTN)	NP_003310.4:p.Leu14712Val
NM_133378.4:c.63625T>G (TTN)	NP_596869.4:p.Leu21209Val
NM_133432.3:c.44509T>G (TTN)	NP_597676.3:p.Leu14837Val
NM_133437.4:c.44710T>G (TTN)	NP_597681.4:p.Leu14904Val
NR_038271.1:n.596+3354A>C (TTN-AS1)
NR_038272.1:n.2044-7769A>C (TTN-AS1)
XM_011511729.1:c.70426T>G (TTN)	XP_011510031.1:p.Leu23476Val
XM_011511730.1:c.44320T>G (TTN)	XP_011510032.1:p.Leu14774Val
XM_011511731.1:c.44179T>G (TTN)	XP_011510033.1:p.Leu14727Val
XM_017004819.1:c.70222T>G (TTN)	XP_016860308.1:p.Leu23408Val
XM_017004820.1:c.65620T>G (TTN)	XP_016860309.1:p.Leu21874Val
XM_017004821.1:c.65617T>G (TTN)	XP_016860310.1:p.Leu21873Val
XM_017004822.1:c.62659T>G (TTN)	XP_016860311.1:p.Leu20887Val
XM_017004823.1:c.44275T>G (TTN)	XP_016860312.1:p.Leu14759Val
XM_024453094.1:c.65770T>G (TTN)	XP_024308862.1:p.Leu21924Val
XM_024453095.1:c.65767T>G (TTN)	XP_024308863.1:p.Leu21923Val
XM_024453096.1:c.65200T>G (TTN)	XP_024308864.1:p.Leu21734Val
XM_024453097.1:c.62542T>G (TTN)	XP_024308865.1:p.Leu20848Val
XM_024453098.1:c.62461T>G (TTN)	XP_024308866.1:p.Leu20821Val
XM_024453099.1:c.44224T>G (TTN)	XP_024308867.1:p.Leu14742Val
XM_024453100.1:c.34078T>G (TTN)	XP_024308868.1:p.Leu11360Val