Canonical Allele Identifier: CA349504101

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416569C>A (hg19) ; chr2:g.178551842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551842C>A , CM000664.2:g.178551842C>A	GRCh38
NC_000002.11:g.179416569C>A , CM000664.1:g.179416569C>A	GRCh37
NC_000002.10:g.179124815C>A	NCBI36
NG_011618.3:g.283961G>T , LRG_391:g.283961G>T
NG_051363.1:g.34016C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83354G>T (TTN)	ENSP00000343764.6:p.Gly27785Val
ENST00000342175.11:c.64439G>T (TTN)	ENSP00000340554.6:p.Gly21480Val
ENST00000359218.10:c.64238G>T (TTN)	ENSP00000352154.5:p.Gly21413Val
ENST00000342175.10:c.64439G>T (TTN)	ENSP00000340554.6:p.Gly21480Val
ENST00000342992.10:c.83354G>T (TTN)	ENSP00000343764.6:p.Gly27785Val
ENST00000359218.9:c.64238G>T (TTN)	ENSP00000352154.5:p.Gly21413Val
ENST00000460472.6:c.63863G>T (TTN)	ENSP00000434586.1:p.Gly21288Val
ENST00000589042.5:c.91058G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30353Val
ENST00000591111.5:c.86135G>T (TTN)	ENSP00000465570.1:p.Gly28712Val
ENST00000615779.4:c.86135G>T (TTN)	ENSP00000483597.1:p.Gly28712Val
NM_001256850.1:c.86135G>T (TTN)	NP_001243779.1:p.Gly28712Val
NM_001267550.2:c.91058G>T (TTN) MANE Select	NP_001254479.2:p.Gly30353Val
NM_003319.4:c.63863G>T (TTN)	NP_003310.4:p.Gly21288Val
NM_133378.4:c.83354G>T (TTN)	NP_596869.4:p.Gly27785Val
NM_133432.3:c.64238G>T (TTN)	NP_597676.3:p.Gly21413Val
NM_133437.4:c.64439G>T (TTN)	NP_597681.4:p.Gly21480Val
NR_038271.1:n.447-19458C>A (TTN-AS1)
NR_038272.1:n.2043+9481C>A (TTN-AS1)
XM_011511729.1:c.90155G>T (TTN)	XP_011510031.1:p.Gly30052Val
XM_011511730.1:c.64049G>T (TTN)	XP_011510032.1:p.Gly21350Val
XM_011511731.1:c.63908G>T (TTN)	XP_011510033.1:p.Gly21303Val
XM_017004819.1:c.89951G>T (TTN)	XP_016860308.1:p.Gly29984Val
XM_017004820.1:c.85349G>T (TTN)	XP_016860309.1:p.Gly28450Val
XM_017004821.1:c.85346G>T (TTN)	XP_016860310.1:p.Gly28449Val
XM_017004822.1:c.82388G>T (TTN)	XP_016860311.1:p.Gly27463Val
XM_017004823.1:c.64004G>T (TTN)	XP_016860312.1:p.Gly21335Val
XM_024453094.1:c.85499G>T (TTN)	XP_024308862.1:p.Gly28500Val
XM_024453095.1:c.85496G>T (TTN)	XP_024308863.1:p.Gly28499Val
XM_024453096.1:c.84929G>T (TTN)	XP_024308864.1:p.Gly28310Val
XM_024453097.1:c.82271G>T (TTN)	XP_024308865.1:p.Gly27424Val
XM_024453098.1:c.82190G>T (TTN)	XP_024308866.1:p.Gly27397Val
XM_024453099.1:c.63953G>T (TTN)	XP_024308867.1:p.Gly21318Val
XM_024453100.1:c.53807G>T (TTN)	XP_024308868.1:p.Gly17936Val