Canonical Allele Identifier: CA349541157

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178601541-G-C
• MyVariant Identifiers: chr2:g.179466268G>C (hg19) ; chr2:g.178601541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601541G>C , CM000664.2:g.178601541G>C	GRCh38
NC_000002.11:g.179466268G>C , CM000664.1:g.179466268G>C	GRCh37
NC_000002.10:g.179174513G>C	NCBI36
NG_011618.3:g.234262C>G , LRG_391:g.234262C>G
NG_051363.1:g.83715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47752C>G (TTN)	ENSP00000343764.6:p.Leu15918Val
ENST00000342175.11:c.28837C>G (TTN)	ENSP00000340554.6:p.Leu9613Val
ENST00000359218.10:c.28636C>G (TTN)	ENSP00000352154.5:p.Leu9546Val
ENST00000342175.10:c.28837C>G (TTN)	ENSP00000340554.6:p.Leu9613Val
ENST00000342992.10:c.47752C>G (TTN)	ENSP00000343764.6:p.Leu15918Val
ENST00000359218.9:c.28636C>G (TTN)	ENSP00000352154.5:p.Leu9546Val
ENST00000460472.6:c.28261C>G (TTN)	ENSP00000434586.1:p.Leu9421Val
ENST00000589042.5:c.55456C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu18486Val
ENST00000591111.5:c.50533C>G (TTN)	ENSP00000465570.1:p.Leu16845Val
ENST00000615779.4:c.50533C>G (TTN)	ENSP00000483597.1:p.Leu16845Val
NM_001256850.1:c.50533C>G (TTN)	NP_001243779.1:p.Leu16845Val
NM_001267550.2:c.55456C>G (TTN) MANE Select	NP_001254479.2:p.Leu18486Val
NM_003319.4:c.28261C>G (TTN)	NP_003310.4:p.Leu9421Val
NM_133378.4:c.47752C>G (TTN)	NP_596869.4:p.Leu15918Val
NM_133432.3:c.28636C>G (TTN)	NP_597676.3:p.Leu9546Val
NM_133437.4:c.28837C>G (TTN)	NP_597681.4:p.Leu9613Val
NR_038271.1:n.682+3860G>C (TTN-AS1)
NR_038272.1:n.3917+874G>C (TTN-AS1)
XM_011511729.1:c.54553C>G (TTN)	XP_011510031.1:p.Leu18185Val
XM_011511730.1:c.28447C>G (TTN)	XP_011510032.1:p.Leu9483Val
XM_011511731.1:c.28306C>G (TTN)	XP_011510033.1:p.Leu9436Val
XM_017004819.1:c.54349C>G (TTN)	XP_016860308.1:p.Leu18117Val
XM_017004820.1:c.49747C>G (TTN)	XP_016860309.1:p.Leu16583Val
XM_017004821.1:c.49744C>G (TTN)	XP_016860310.1:p.Leu16582Val
XM_017004822.1:c.46786C>G (TTN)	XP_016860311.1:p.Leu15596Val
XM_017004823.1:c.28402C>G (TTN)	XP_016860312.1:p.Leu9468Val
XM_024453094.1:c.49897C>G (TTN)	XP_024308862.1:p.Leu16633Val
XM_024453095.1:c.49894C>G (TTN)	XP_024308863.1:p.Leu16632Val
XM_024453096.1:c.49327C>G (TTN)	XP_024308864.1:p.Leu16443Val
XM_024453097.1:c.46669C>G (TTN)	XP_024308865.1:p.Leu15557Val
XM_024453098.1:c.46588C>G (TTN)	XP_024308866.1:p.Leu15530Val
XM_024453099.1:c.28351C>G (TTN)	XP_024308867.1:p.Leu9451Val
XM_024453100.1:c.18205C>G (TTN)	XP_024308868.1:p.Leu6069Val