Canonical Allele Identifier: CA349613791

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1231811073
• COSMIC: COSM3961678 ; COSM3961679 ; COSM3961680 ; COSM3961681
• MyVariant Identifiers: chr2:g.179434045G>T (hg19) ; chr2:g.178569318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569318G>T , CM000664.2:g.178569318G>T	GRCh38
NC_000002.11:g.179434045G>T , CM000664.1:g.179434045G>T	GRCh37
NC_000002.10:g.179142291G>T	NCBI36
NG_011618.3:g.266485C>A , LRG_391:g.266485C>A
NG_051363.1:g.51492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69110C>A (TTN)	ENSP00000343764.6:p.Pro23037His
ENST00000342175.11:c.50195C>A (TTN)	ENSP00000340554.6:p.Pro16732His
ENST00000359218.10:c.49994C>A (TTN)	ENSP00000352154.5:p.Pro16665His
ENST00000342175.10:c.50195C>A (TTN)	ENSP00000340554.6:p.Pro16732His
ENST00000342992.10:c.69110C>A (TTN)	ENSP00000343764.6:p.Pro23037His
ENST00000359218.9:c.49994C>A (TTN)	ENSP00000352154.5:p.Pro16665His
ENST00000460472.6:c.49619C>A (TTN)	ENSP00000434586.1:p.Pro16540His
ENST00000589042.5:c.76814C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro25605His
ENST00000591111.5:c.71891C>A (TTN)	ENSP00000465570.1:p.Pro23964His
ENST00000615779.4:c.71891C>A (TTN)	ENSP00000483597.1:p.Pro23964His
NM_001256850.1:c.71891C>A (TTN)	NP_001243779.1:p.Pro23964His
NM_001267550.2:c.76814C>A (TTN) MANE Select	NP_001254479.2:p.Pro25605His
NM_003319.4:c.49619C>A (TTN)	NP_003310.4:p.Pro16540His
NM_133378.4:c.69110C>A (TTN)	NP_596869.4:p.Pro23037His
NM_133432.3:c.49994C>A (TTN)	NP_597676.3:p.Pro16665His
NM_133437.4:c.50195C>A (TTN)	NP_597681.4:p.Pro16732His
NR_038271.1:n.447-1982G>T (TTN-AS1)
NR_038272.1:n.2044-13254G>T (TTN-AS1)
XM_011511729.1:c.75911C>A (TTN)	XP_011510031.1:p.Pro25304His
XM_011511730.1:c.49805C>A (TTN)	XP_011510032.1:p.Pro16602His
XM_011511731.1:c.49664C>A (TTN)	XP_011510033.1:p.Pro16555His
XM_017004819.1:c.75707C>A (TTN)	XP_016860308.1:p.Pro25236His
XM_017004820.1:c.71105C>A (TTN)	XP_016860309.1:p.Pro23702His
XM_017004821.1:c.71102C>A (TTN)	XP_016860310.1:p.Pro23701His
XM_017004822.1:c.68144C>A (TTN)	XP_016860311.1:p.Pro22715His
XM_017004823.1:c.49760C>A (TTN)	XP_016860312.1:p.Pro16587His
XM_024453094.1:c.71255C>A (TTN)	XP_024308862.1:p.Pro23752His
XM_024453095.1:c.71252C>A (TTN)	XP_024308863.1:p.Pro23751His
XM_024453096.1:c.70685C>A (TTN)	XP_024308864.1:p.Pro23562His
XM_024453097.1:c.68027C>A (TTN)	XP_024308865.1:p.Pro22676His
XM_024453098.1:c.67946C>A (TTN)	XP_024308866.1:p.Pro22649His
XM_024453099.1:c.49709C>A (TTN)	XP_024308867.1:p.Pro16570His
XM_024453100.1:c.39563C>A (TTN)	XP_024308868.1:p.Pro13188His