Canonical Allele Identifier: CA349551942

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1703227943
• COSMIC: COSM5010935 ; COSM5010936 ; COSM5010937 ; COSM5010938
• MyVariant Identifiers: chr2:g.179425247C>G (hg19) ; chr2:g.178560520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560520C>G , CM000664.2:g.178560520C>G	GRCh38
NC_000002.11:g.179425247C>G , CM000664.1:g.179425247C>G	GRCh37
NC_000002.10:g.179133493C>G	NCBI36
NG_011618.3:g.275283G>C , LRG_391:g.275283G>C
NG_051363.1:g.42694C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77908G>C (TTN)	ENSP00000343764.6:p.Glu25970Gln
ENST00000342175.11:c.58993G>C (TTN)	ENSP00000340554.6:p.Glu19665Gln
ENST00000359218.10:c.58792G>C (TTN)	ENSP00000352154.5:p.Glu19598Gln
ENST00000342175.10:c.58993G>C (TTN)	ENSP00000340554.6:p.Glu19665Gln
ENST00000342992.10:c.77908G>C (TTN)	ENSP00000343764.6:p.Glu25970Gln
ENST00000359218.9:c.58792G>C (TTN)	ENSP00000352154.5:p.Glu19598Gln
ENST00000460472.6:c.58417G>C (TTN)	ENSP00000434586.1:p.Glu19473Gln
ENST00000589042.5:c.85612G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu28538Gln
ENST00000591111.5:c.80689G>C (TTN)	ENSP00000465570.1:p.Glu26897Gln
ENST00000615779.4:c.80689G>C (TTN)	ENSP00000483597.1:p.Glu26897Gln
NM_001256850.1:c.80689G>C (TTN)	NP_001243779.1:p.Glu26897Gln
NM_001267550.2:c.85612G>C (TTN) MANE Select	NP_001254479.2:p.Glu28538Gln
NM_003319.4:c.58417G>C (TTN)	NP_003310.4:p.Glu19473Gln
NM_133378.4:c.77908G>C (TTN)	NP_596869.4:p.Glu25970Gln
NM_133432.3:c.58792G>C (TTN)	NP_597676.3:p.Glu19598Gln
NM_133437.4:c.58993G>C (TTN)	NP_597681.4:p.Glu19665Gln
NR_038271.1:n.447-10780C>G (TTN-AS1)
NR_038272.1:n.2043+18159C>G (TTN-AS1)
XM_011511729.1:c.84709G>C (TTN)	XP_011510031.1:p.Glu28237Gln
XM_011511730.1:c.58603G>C (TTN)	XP_011510032.1:p.Glu19535Gln
XM_011511731.1:c.58462G>C (TTN)	XP_011510033.1:p.Glu19488Gln
XM_017004819.1:c.84505G>C (TTN)	XP_016860308.1:p.Glu28169Gln
XM_017004820.1:c.79903G>C (TTN)	XP_016860309.1:p.Glu26635Gln
XM_017004821.1:c.79900G>C (TTN)	XP_016860310.1:p.Glu26634Gln
XM_017004822.1:c.76942G>C (TTN)	XP_016860311.1:p.Glu25648Gln
XM_017004823.1:c.58558G>C (TTN)	XP_016860312.1:p.Glu19520Gln
XM_024453094.1:c.80053G>C (TTN)	XP_024308862.1:p.Glu26685Gln
XM_024453095.1:c.80050G>C (TTN)	XP_024308863.1:p.Glu26684Gln
XM_024453096.1:c.79483G>C (TTN)	XP_024308864.1:p.Glu26495Gln
XM_024453097.1:c.76825G>C (TTN)	XP_024308865.1:p.Glu25609Gln
XM_024453098.1:c.76744G>C (TTN)	XP_024308866.1:p.Glu25582Gln
XM_024453099.1:c.58507G>C (TTN)	XP_024308867.1:p.Glu19503Gln
XM_024453100.1:c.48361G>C (TTN)	XP_024308868.1:p.Glu16121Gln