Canonical Allele Identifier: CA349435414

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449200C>G (hg19) ; chr2:g.178584473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584473C>G , CM000664.2:g.178584473C>G	GRCh38
NC_000002.11:g.179449200C>G , CM000664.1:g.179449200C>G	GRCh37
NC_000002.10:g.179157446C>G	NCBI36
NG_011618.3:g.251330G>C , LRG_391:g.251330G>C
NG_051363.1:g.66647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57374G>C (TTN)	ENSP00000343764.6:p.Gly19125Ala
ENST00000342175.11:c.38459G>C (TTN)	ENSP00000340554.6:p.Gly12820Ala
ENST00000359218.10:c.38258G>C (TTN)	ENSP00000352154.5:p.Gly12753Ala
ENST00000342175.10:c.38459G>C (TTN)	ENSP00000340554.6:p.Gly12820Ala
ENST00000342992.10:c.57374G>C (TTN)	ENSP00000343764.6:p.Gly19125Ala
ENST00000359218.9:c.38258G>C (TTN)	ENSP00000352154.5:p.Gly12753Ala
ENST00000460472.6:c.37883G>C (TTN)	ENSP00000434586.1:p.Gly12628Ala
ENST00000589042.5:c.65078G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly21693Ala
ENST00000591111.5:c.60155G>C (TTN)	ENSP00000465570.1:p.Gly20052Ala
ENST00000615779.4:c.60155G>C (TTN)	ENSP00000483597.1:p.Gly20052Ala
NM_001256850.1:c.60155G>C (TTN)	NP_001243779.1:p.Gly20052Ala
NM_001267550.2:c.65078G>C (TTN) MANE Select	NP_001254479.2:p.Gly21693Ala
NM_003319.4:c.37883G>C (TTN)	NP_003310.4:p.Gly12628Ala
NM_133378.4:c.57374G>C (TTN)	NP_596869.4:p.Gly19125Ala
NM_133432.3:c.38258G>C (TTN)	NP_597676.3:p.Gly12753Ala
NM_133437.4:c.38459G>C (TTN)	NP_597681.4:p.Gly12820Ala
NR_038271.1:n.596+13024C>G (TTN-AS1)
NR_038272.1:n.2768-100C>G (TTN-AS1)
XM_011511729.1:c.64175G>C (TTN)	XP_011510031.1:p.Gly21392Ala
XM_011511730.1:c.38069G>C (TTN)	XP_011510032.1:p.Gly12690Ala
XM_011511731.1:c.37928G>C (TTN)	XP_011510033.1:p.Gly12643Ala
XM_017004819.1:c.63971G>C (TTN)	XP_016860308.1:p.Gly21324Ala
XM_017004820.1:c.59369G>C (TTN)	XP_016860309.1:p.Gly19790Ala
XM_017004821.1:c.59366G>C (TTN)	XP_016860310.1:p.Gly19789Ala
XM_017004822.1:c.56408G>C (TTN)	XP_016860311.1:p.Gly18803Ala
XM_017004823.1:c.38024G>C (TTN)	XP_016860312.1:p.Gly12675Ala
XM_024453094.1:c.59519G>C (TTN)	XP_024308862.1:p.Gly19840Ala
XM_024453095.1:c.59516G>C (TTN)	XP_024308863.1:p.Gly19839Ala
XM_024453096.1:c.58949G>C (TTN)	XP_024308864.1:p.Gly19650Ala
XM_024453097.1:c.56291G>C (TTN)	XP_024308865.1:p.Gly18764Ala
XM_024453098.1:c.56210G>C (TTN)	XP_024308866.1:p.Gly18737Ala
XM_024453099.1:c.37973G>C (TTN)	XP_024308867.1:p.Gly12658Ala
XM_024453100.1:c.27827G>C (TTN)	XP_024308868.1:p.Gly9276Ala