Canonical Allele Identifier: CA349446352

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1695529029
• MyVariant Identifiers: chr2:g.179408069C>T (hg19) ; chr2:g.178543342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543342C>T , CM000664.2:g.178543342C>T	GRCh38
NC_000002.11:g.179408069C>T , CM000664.1:g.179408069C>T	GRCh37
NC_000002.10:g.179116315C>T	NCBI36
NG_011618.3:g.292461G>A , LRG_391:g.292461G>A
NG_051363.1:g.25516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88927G>A (TTN)	ENSP00000343764.6:p.Val29643Met
ENST00000342175.11:c.70012G>A (TTN)	ENSP00000340554.6:p.Val23338Met
ENST00000359218.10:c.69811G>A (TTN)	ENSP00000352154.5:p.Val23271Met
ENST00000342175.10:c.70012G>A (TTN)	ENSP00000340554.6:p.Val23338Met
ENST00000342992.10:c.88927G>A (TTN)	ENSP00000343764.6:p.Val29643Met
ENST00000359218.9:c.69811G>A (TTN)	ENSP00000352154.5:p.Val23271Met
ENST00000460472.6:c.69436G>A (TTN)	ENSP00000434586.1:p.Val23146Met
ENST00000589042.5:c.96631G>A (TTN) MANE Select	ENSP00000467141.1:p.Val32211Met
ENST00000591111.5:c.91708G>A (TTN)	ENSP00000465570.1:p.Val30570Met
ENST00000615779.4:c.91708G>A (TTN)	ENSP00000483597.1:p.Val30570Met
NM_001256850.1:c.91708G>A (TTN)	NP_001243779.1:p.Val30570Met
NM_001267550.2:c.96631G>A (TTN) MANE Select	NP_001254479.2:p.Val32211Met
NM_003319.4:c.69436G>A (TTN)	NP_003310.4:p.Val23146Met
NM_133378.4:c.88927G>A (TTN)	NP_596869.4:p.Val29643Met
NM_133432.3:c.69811G>A (TTN)	NP_597676.3:p.Val23271Met
NM_133437.4:c.70012G>A (TTN)	NP_597681.4:p.Val23338Met
NR_038271.1:n.446+19706C>T (TTN-AS1)
NR_038272.1:n.2043+981C>T (TTN-AS1)
XM_011511729.1:c.95728G>A (TTN)	XP_011510031.1:p.Val31910Met
XM_011511730.1:c.69622G>A (TTN)	XP_011510032.1:p.Val23208Met
XM_011511731.1:c.69481G>A (TTN)	XP_011510033.1:p.Val23161Met
XM_017004819.1:c.95524G>A (TTN)	XP_016860308.1:p.Val31842Met
XM_017004820.1:c.90922G>A (TTN)	XP_016860309.1:p.Val30308Met
XM_017004821.1:c.90919G>A (TTN)	XP_016860310.1:p.Val30307Met
XM_017004822.1:c.87961G>A (TTN)	XP_016860311.1:p.Val29321Met
XM_017004823.1:c.69577G>A (TTN)	XP_016860312.1:p.Val23193Met
XM_024453094.1:c.91072G>A (TTN)	XP_024308862.1:p.Val30358Met
XM_024453095.1:c.91069G>A (TTN)	XP_024308863.1:p.Val30357Met
XM_024453096.1:c.90502G>A (TTN)	XP_024308864.1:p.Val30168Met
XM_024453097.1:c.87844G>A (TTN)	XP_024308865.1:p.Val29282Met
XM_024453098.1:c.87763G>A (TTN)	XP_024308866.1:p.Val29255Met
XM_024453099.1:c.69526G>A (TTN)	XP_024308867.1:p.Val23176Met
XM_024453100.1:c.59380G>A (TTN)	XP_024308868.1:p.Val19794Met