Canonical Allele Identifier: CA349435438

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1253986001
• MyVariant Identifiers: chr2:g.179449202A>C (hg19) ; chr2:g.178584475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584475A>C , CM000664.2:g.178584475A>C	GRCh38
NC_000002.11:g.179449202A>C , CM000664.1:g.179449202A>C	GRCh37
NC_000002.10:g.179157448A>C	NCBI36
NG_011618.3:g.251328T>G , LRG_391:g.251328T>G
NG_051363.1:g.66649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57372T>G (TTN)	ENSP00000343764.6:p.Ile19124Met
ENST00000342175.11:c.38457T>G (TTN)	ENSP00000340554.6:p.Ile12819Met
ENST00000359218.10:c.38256T>G (TTN)	ENSP00000352154.5:p.Ile12752Met
ENST00000342175.10:c.38457T>G (TTN)	ENSP00000340554.6:p.Ile12819Met
ENST00000342992.10:c.57372T>G (TTN)	ENSP00000343764.6:p.Ile19124Met
ENST00000359218.9:c.38256T>G (TTN)	ENSP00000352154.5:p.Ile12752Met
ENST00000460472.6:c.37881T>G (TTN)	ENSP00000434586.1:p.Ile12627Met
ENST00000589042.5:c.65076T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile21692Met
ENST00000591111.5:c.60153T>G (TTN)	ENSP00000465570.1:p.Ile20051Met
ENST00000615779.4:c.60153T>G (TTN)	ENSP00000483597.1:p.Ile20051Met
NM_001256850.1:c.60153T>G (TTN)	NP_001243779.1:p.Ile20051Met
NM_001267550.2:c.65076T>G (TTN) MANE Select	NP_001254479.2:p.Ile21692Met
NM_003319.4:c.37881T>G (TTN)	NP_003310.4:p.Ile12627Met
NM_133378.4:c.57372T>G (TTN)	NP_596869.4:p.Ile19124Met
NM_133432.3:c.38256T>G (TTN)	NP_597676.3:p.Ile12752Met
NM_133437.4:c.38457T>G (TTN)	NP_597681.4:p.Ile12819Met
NR_038271.1:n.596+13026A>C (TTN-AS1)
NR_038272.1:n.2768-98A>C (TTN-AS1)
XM_011511729.1:c.64173T>G (TTN)	XP_011510031.1:p.Ile21391Met
XM_011511730.1:c.38067T>G (TTN)	XP_011510032.1:p.Ile12689Met
XM_011511731.1:c.37926T>G (TTN)	XP_011510033.1:p.Ile12642Met
XM_017004819.1:c.63969T>G (TTN)	XP_016860308.1:p.Ile21323Met
XM_017004820.1:c.59367T>G (TTN)	XP_016860309.1:p.Ile19789Met
XM_017004821.1:c.59364T>G (TTN)	XP_016860310.1:p.Ile19788Met
XM_017004822.1:c.56406T>G (TTN)	XP_016860311.1:p.Ile18802Met
XM_017004823.1:c.38022T>G (TTN)	XP_016860312.1:p.Ile12674Met
XM_024453094.1:c.59517T>G (TTN)	XP_024308862.1:p.Ile19839Met
XM_024453095.1:c.59514T>G (TTN)	XP_024308863.1:p.Ile19838Met
XM_024453096.1:c.58947T>G (TTN)	XP_024308864.1:p.Ile19649Met
XM_024453097.1:c.56289T>G (TTN)	XP_024308865.1:p.Ile18763Met
XM_024453098.1:c.56208T>G (TTN)	XP_024308866.1:p.Ile18736Met
XM_024453099.1:c.37971T>G (TTN)	XP_024308867.1:p.Ile12657Met
XM_024453100.1:c.27825T>G (TTN)	XP_024308868.1:p.Ile9275Met