Canonical Allele Identifier: CA349451047

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408635T>A (hg19) ; chr2:g.178543908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543908T>A , CM000664.2:g.178543908T>A	GRCh38
NC_000002.11:g.179408635T>A , CM000664.1:g.179408635T>A	GRCh37
NC_000002.10:g.179116881T>A	NCBI36
NG_011618.3:g.291895A>T , LRG_391:g.291895A>T
NG_051363.1:g.26082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88532A>T (TTN)	ENSP00000343764.6:p.Asp29511Val
ENST00000342175.11:c.69617A>T (TTN)	ENSP00000340554.6:p.Asp23206Val
ENST00000359218.10:c.69416A>T (TTN)	ENSP00000352154.5:p.Asp23139Val
ENST00000342175.10:c.69617A>T (TTN)	ENSP00000340554.6:p.Asp23206Val
ENST00000342992.10:c.88532A>T (TTN)	ENSP00000343764.6:p.Asp29511Val
ENST00000359218.9:c.69416A>T (TTN)	ENSP00000352154.5:p.Asp23139Val
ENST00000460472.6:c.69041A>T (TTN)	ENSP00000434586.1:p.Asp23014Val
ENST00000589042.5:c.96236A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp32079Val
ENST00000591111.5:c.91313A>T (TTN)	ENSP00000465570.1:p.Asp30438Val
ENST00000615779.4:c.91313A>T (TTN)	ENSP00000483597.1:p.Asp30438Val
NM_001256850.1:c.91313A>T (TTN)	NP_001243779.1:p.Asp30438Val
NM_001267550.2:c.96236A>T (TTN) MANE Select	NP_001254479.2:p.Asp32079Val
NM_003319.4:c.69041A>T (TTN)	NP_003310.4:p.Asp23014Val
NM_133378.4:c.88532A>T (TTN)	NP_596869.4:p.Asp29511Val
NM_133432.3:c.69416A>T (TTN)	NP_597676.3:p.Asp23139Val
NM_133437.4:c.69617A>T (TTN)	NP_597681.4:p.Asp23206Val
NR_038271.1:n.446+20272T>A (TTN-AS1)
NR_038272.1:n.2043+1547T>A (TTN-AS1)
XM_011511729.1:c.95333A>T (TTN)	XP_011510031.1:p.Asp31778Val
XM_011511730.1:c.69227A>T (TTN)	XP_011510032.1:p.Asp23076Val
XM_011511731.1:c.69086A>T (TTN)	XP_011510033.1:p.Asp23029Val
XM_017004819.1:c.95129A>T (TTN)	XP_016860308.1:p.Asp31710Val
XM_017004820.1:c.90527A>T (TTN)	XP_016860309.1:p.Asp30176Val
XM_017004821.1:c.90524A>T (TTN)	XP_016860310.1:p.Asp30175Val
XM_017004822.1:c.87566A>T (TTN)	XP_016860311.1:p.Asp29189Val
XM_017004823.1:c.69182A>T (TTN)	XP_016860312.1:p.Asp23061Val
XM_024453094.1:c.90677A>T (TTN)	XP_024308862.1:p.Asp30226Val
XM_024453095.1:c.90674A>T (TTN)	XP_024308863.1:p.Asp30225Val
XM_024453096.1:c.90107A>T (TTN)	XP_024308864.1:p.Asp30036Val
XM_024453097.1:c.87449A>T (TTN)	XP_024308865.1:p.Asp29150Val
XM_024453098.1:c.87368A>T (TTN)	XP_024308866.1:p.Asp29123Val
XM_024453099.1:c.69131A>T (TTN)	XP_024308867.1:p.Asp23044Val
XM_024453100.1:c.58985A>T (TTN)	XP_024308868.1:p.Asp19662Val