Canonical Allele Identifier: CA349610727

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433469T>G (hg19) ; chr2:g.178568742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568742T>G , CM000664.2:g.178568742T>G	GRCh38
NC_000002.11:g.179433469T>G , CM000664.1:g.179433469T>G	GRCh37
NC_000002.10:g.179141715T>G	NCBI36
NG_011618.3:g.267061A>C , LRG_391:g.267061A>C
NG_051363.1:g.50916T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69686A>C (TTN)	ENSP00000343764.6:p.Glu23229Ala
ENST00000342175.11:c.50771A>C (TTN)	ENSP00000340554.6:p.Glu16924Ala
ENST00000359218.10:c.50570A>C (TTN)	ENSP00000352154.5:p.Glu16857Ala
ENST00000342175.10:c.50771A>C (TTN)	ENSP00000340554.6:p.Glu16924Ala
ENST00000342992.10:c.69686A>C (TTN)	ENSP00000343764.6:p.Glu23229Ala
ENST00000359218.9:c.50570A>C (TTN)	ENSP00000352154.5:p.Glu16857Ala
ENST00000460472.6:c.50195A>C (TTN)	ENSP00000434586.1:p.Glu16732Ala
ENST00000589042.5:c.77390A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu25797Ala
ENST00000591111.5:c.72467A>C (TTN)	ENSP00000465570.1:p.Glu24156Ala
ENST00000615779.4:c.72467A>C (TTN)	ENSP00000483597.1:p.Glu24156Ala
NM_001256850.1:c.72467A>C (TTN)	NP_001243779.1:p.Glu24156Ala
NM_001267550.2:c.77390A>C (TTN) MANE Select	NP_001254479.2:p.Glu25797Ala
NM_003319.4:c.50195A>C (TTN)	NP_003310.4:p.Glu16732Ala
NM_133378.4:c.69686A>C (TTN)	NP_596869.4:p.Glu23229Ala
NM_133432.3:c.50570A>C (TTN)	NP_597676.3:p.Glu16857Ala
NM_133437.4:c.50771A>C (TTN)	NP_597681.4:p.Glu16924Ala
NR_038271.1:n.447-2558T>G (TTN-AS1)
NR_038272.1:n.2044-13830T>G (TTN-AS1)
XM_011511729.1:c.76487A>C (TTN)	XP_011510031.1:p.Glu25496Ala
XM_011511730.1:c.50381A>C (TTN)	XP_011510032.1:p.Glu16794Ala
XM_011511731.1:c.50240A>C (TTN)	XP_011510033.1:p.Glu16747Ala
XM_017004819.1:c.76283A>C (TTN)	XP_016860308.1:p.Glu25428Ala
XM_017004820.1:c.71681A>C (TTN)	XP_016860309.1:p.Glu23894Ala
XM_017004821.1:c.71678A>C (TTN)	XP_016860310.1:p.Glu23893Ala
XM_017004822.1:c.68720A>C (TTN)	XP_016860311.1:p.Glu22907Ala
XM_017004823.1:c.50336A>C (TTN)	XP_016860312.1:p.Glu16779Ala
XM_024453094.1:c.71831A>C (TTN)	XP_024308862.1:p.Glu23944Ala
XM_024453095.1:c.71828A>C (TTN)	XP_024308863.1:p.Glu23943Ala
XM_024453096.1:c.71261A>C (TTN)	XP_024308864.1:p.Glu23754Ala
XM_024453097.1:c.68603A>C (TTN)	XP_024308865.1:p.Glu22868Ala
XM_024453098.1:c.68522A>C (TTN)	XP_024308866.1:p.Glu22841Ala
XM_024453099.1:c.50285A>C (TTN)	XP_024308867.1:p.Glu16762Ala
XM_024453100.1:c.40139A>C (TTN)	XP_024308868.1:p.Glu13380Ala