Canonical Allele Identifier: CA349423350

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444302G>A (hg19) ; chr2:g.178579575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579575G>A , CM000664.2:g.178579575G>A	GRCh38
NC_000002.11:g.179444302G>A , CM000664.1:g.179444302G>A	GRCh37
NC_000002.10:g.179152548G>A	NCBI36
NG_011618.3:g.256228C>T , LRG_391:g.256228C>T
NG_051363.1:g.61749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59918C>T (TTN)	ENSP00000343764.6:p.Ala19973Val
ENST00000342175.11:c.41003C>T (TTN)	ENSP00000340554.6:p.Ala13668Val
ENST00000359218.10:c.40802C>T (TTN)	ENSP00000352154.5:p.Ala13601Val
ENST00000342175.10:c.41003C>T (TTN)	ENSP00000340554.6:p.Ala13668Val
ENST00000342992.10:c.59918C>T (TTN)	ENSP00000343764.6:p.Ala19973Val
ENST00000359218.9:c.40802C>T (TTN)	ENSP00000352154.5:p.Ala13601Val
ENST00000460472.6:c.40427C>T (TTN)	ENSP00000434586.1:p.Ala13476Val
ENST00000589042.5:c.67622C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala22541Val
ENST00000591111.5:c.62699C>T (TTN)	ENSP00000465570.1:p.Ala20900Val
ENST00000615779.4:c.62699C>T (TTN)	ENSP00000483597.1:p.Ala20900Val
NM_001256850.1:c.62699C>T (TTN)	NP_001243779.1:p.Ala20900Val
NM_001267550.2:c.67622C>T (TTN) MANE Select	NP_001254479.2:p.Ala22541Val
NM_003319.4:c.40427C>T (TTN)	NP_003310.4:p.Ala13476Val
NM_133378.4:c.59918C>T (TTN)	NP_596869.4:p.Ala19973Val
NM_133432.3:c.40802C>T (TTN)	NP_597676.3:p.Ala13601Val
NM_133437.4:c.41003C>T (TTN)	NP_597681.4:p.Ala13668Val
NR_038271.1:n.596+8126G>A (TTN-AS1)
NR_038272.1:n.2044-2997G>A (TTN-AS1)
XM_011511729.1:c.66719C>T (TTN)	XP_011510031.1:p.Ala22240Val
XM_011511730.1:c.40613C>T (TTN)	XP_011510032.1:p.Ala13538Val
XM_011511731.1:c.40472C>T (TTN)	XP_011510033.1:p.Ala13491Val
XM_017004819.1:c.66515C>T (TTN)	XP_016860308.1:p.Ala22172Val
XM_017004820.1:c.61913C>T (TTN)	XP_016860309.1:p.Ala20638Val
XM_017004821.1:c.61910C>T (TTN)	XP_016860310.1:p.Ala20637Val
XM_017004822.1:c.58952C>T (TTN)	XP_016860311.1:p.Ala19651Val
XM_017004823.1:c.40568C>T (TTN)	XP_016860312.1:p.Ala13523Val
XM_024453094.1:c.62063C>T (TTN)	XP_024308862.1:p.Ala20688Val
XM_024453095.1:c.62060C>T (TTN)	XP_024308863.1:p.Ala20687Val
XM_024453096.1:c.61493C>T (TTN)	XP_024308864.1:p.Ala20498Val
XM_024453097.1:c.58835C>T (TTN)	XP_024308865.1:p.Ala19612Val
XM_024453098.1:c.58754C>T (TTN)	XP_024308866.1:p.Ala19585Val
XM_024453099.1:c.40517C>T (TTN)	XP_024308867.1:p.Ala13506Val
XM_024453100.1:c.30371C>T (TTN)	XP_024308868.1:p.Ala10124Val