Canonical Allele Identifier: CA1991243

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs754723277
• ExAC: 2:179444037 T / C
• gnomAD v2: 2-179444037-T-C
• gnomAD v4: 2-178579310-T-C
• MyVariant Identifiers: chr2:g.179444037T>C (hg19) ; chr2:g.178579310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579310T>C , CM000664.2:g.178579310T>C	GRCh38
NC_000002.11:g.179444037T>C , CM000664.1:g.179444037T>C	GRCh37
NC_000002.10:g.179152283T>C	NCBI36
NG_011618.3:g.256493A>G , LRG_391:g.256493A>G
NG_051363.1:g.61484T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60016A>G (TTN)	ENSP00000343764.6:p.Ile20006Val
ENST00000342175.11:c.41101A>G (TTN)	ENSP00000340554.6:p.Ile13701Val
ENST00000359218.10:c.40900A>G (TTN)	ENSP00000352154.5:p.Ile13634Val
ENST00000342175.10:c.41101A>G (TTN)	ENSP00000340554.6:p.Ile13701Val
ENST00000342992.10:c.60016A>G (TTN)	ENSP00000343764.6:p.Ile20006Val
ENST00000359218.9:c.40900A>G (TTN)	ENSP00000352154.5:p.Ile13634Val
ENST00000460472.6:c.40525A>G (TTN)	ENSP00000434586.1:p.Ile13509Val
ENST00000589042.5:c.67720A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile22574Val
ENST00000591111.5:c.62797A>G (TTN)	ENSP00000465570.1:p.Ile20933Val
ENST00000615779.4:c.62797A>G (TTN)	ENSP00000483597.1:p.Ile20933Val
NM_001256850.1:c.62797A>G (TTN)	NP_001243779.1:p.Ile20933Val
NM_001267550.2:c.67720A>G (TTN) MANE Select	NP_001254479.2:p.Ile22574Val
NM_003319.4:c.40525A>G (TTN)	NP_003310.4:p.Ile13509Val
NM_133378.4:c.60016A>G (TTN)	NP_596869.4:p.Ile20006Val
NM_133432.3:c.40900A>G (TTN)	NP_597676.3:p.Ile13634Val
NM_133437.4:c.41101A>G (TTN)	NP_597681.4:p.Ile13701Val
NR_038271.1:n.596+7861T>C (TTN-AS1)
NR_038272.1:n.2044-3262T>C (TTN-AS1)
XM_011511729.1:c.66817A>G (TTN)	XP_011510031.1:p.Ile22273Val
XM_011511730.1:c.40711A>G (TTN)	XP_011510032.1:p.Ile13571Val
XM_011511731.1:c.40570A>G (TTN)	XP_011510033.1:p.Ile13524Val
XM_017004819.1:c.66613A>G (TTN)	XP_016860308.1:p.Ile22205Val
XM_017004820.1:c.62011A>G (TTN)	XP_016860309.1:p.Ile20671Val
XM_017004821.1:c.62008A>G (TTN)	XP_016860310.1:p.Ile20670Val
XM_017004822.1:c.59050A>G (TTN)	XP_016860311.1:p.Ile19684Val
XM_017004823.1:c.40666A>G (TTN)	XP_016860312.1:p.Ile13556Val
XM_024453094.1:c.62161A>G (TTN)	XP_024308862.1:p.Ile20721Val
XM_024453095.1:c.62158A>G (TTN)	XP_024308863.1:p.Ile20720Val
XM_024453096.1:c.61591A>G (TTN)	XP_024308864.1:p.Ile20531Val
XM_024453097.1:c.58933A>G (TTN)	XP_024308865.1:p.Ile19645Val
XM_024453098.1:c.58852A>G (TTN)	XP_024308866.1:p.Ile19618Val
XM_024453099.1:c.40615A>G (TTN)	XP_024308867.1:p.Ile13539Val
XM_024453100.1:c.30469A>G (TTN)	XP_024308868.1:p.Ile10157Val