Canonical Allele Identifier: CA349617972

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482755C>G (hg19) ; chr2:g.178618028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618028C>G , CM000664.2:g.178618028C>G	GRCh38
NC_000002.11:g.179482755C>G , CM000664.1:g.179482755C>G	GRCh37
NC_000002.10:g.179191000C>G	NCBI36
NG_011618.3:g.217775G>C , LRG_391:g.217775G>C
NG_051363.1:g.100202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39619G>C (TTN)	ENSP00000343764.6:p.Val13207Leu
ENST00000342175.11:c.20704G>C (TTN)	ENSP00000340554.6:p.Val6902Leu
ENST00000359218.10:c.20503G>C (TTN)	ENSP00000352154.5:p.Val6835Leu
ENST00000342175.10:c.20704G>C (TTN)	ENSP00000340554.6:p.Val6902Leu
ENST00000342992.10:c.39619G>C (TTN)	ENSP00000343764.6:p.Val13207Leu
ENST00000359218.9:c.20503G>C (TTN)	ENSP00000352154.5:p.Val6835Leu
ENST00000460472.6:c.20128G>C (TTN)	ENSP00000434586.1:p.Val6710Leu
ENST00000589042.5:c.47323G>C (TTN) MANE Select	ENSP00000467141.1:p.Val15775Leu
ENST00000591111.5:c.42400G>C (TTN)	ENSP00000465570.1:p.Val14134Leu
ENST00000615779.4:c.42400G>C (TTN)	ENSP00000483597.1:p.Val14134Leu
NM_001256850.1:c.42400G>C (TTN)	NP_001243779.1:p.Val14134Leu
NM_001267550.2:c.47323G>C (TTN) MANE Select	NP_001254479.2:p.Val15775Leu
NM_003319.4:c.20128G>C (TTN)	NP_003310.4:p.Val6710Leu
NM_133378.4:c.39619G>C (TTN)	NP_596869.4:p.Val13207Leu
NM_133432.3:c.20503G>C (TTN)	NP_597676.3:p.Val6835Leu
NM_133437.4:c.20704G>C (TTN)	NP_597681.4:p.Val6902Leu
NR_038271.1:n.1605-1725C>G (TTN-AS1)
XM_011511729.1:c.46420G>C (TTN)	XP_011510031.1:p.Val15474Leu
XM_011511730.1:c.20314G>C (TTN)	XP_011510032.1:p.Val6772Leu
XM_011511731.1:c.20173G>C (TTN)	XP_011510033.1:p.Val6725Leu
XM_017004819.1:c.46216G>C (TTN)	XP_016860308.1:p.Val15406Leu
XM_017004820.1:c.41614G>C (TTN)	XP_016860309.1:p.Val13872Leu
XM_017004821.1:c.41611G>C (TTN)	XP_016860310.1:p.Val13871Leu
XM_017004822.1:c.38653G>C (TTN)	XP_016860311.1:p.Val12885Leu
XM_017004823.1:c.20269G>C (TTN)	XP_016860312.1:p.Val6757Leu
XM_024453094.1:c.41764G>C (TTN)	XP_024308862.1:p.Val13922Leu
XM_024453095.1:c.41761G>C (TTN)	XP_024308863.1:p.Val13921Leu
XM_024453096.1:c.41194G>C (TTN)	XP_024308864.1:p.Val13732Leu
XM_024453097.1:c.38536G>C (TTN)	XP_024308865.1:p.Val12846Leu
XM_024453098.1:c.38455G>C (TTN)	XP_024308866.1:p.Val12819Leu
XM_024453099.1:c.20218G>C (TTN)	XP_024308867.1:p.Val6740Leu
XM_024453100.1:c.10072G>C (TTN)	XP_024308868.1:p.Val3358Leu