Canonical Allele Identifier: CA349507140

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458759G>C (hg19) ; chr2:g.178594032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594032G>C , CM000664.2:g.178594032G>C	GRCh38
NC_000002.11:g.179458759G>C , CM000664.1:g.179458759G>C	GRCh37
NC_000002.10:g.179167005G>C	NCBI36
NG_011618.3:g.241771C>G , LRG_391:g.241771C>G
NG_051363.1:g.76206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50657C>G (TTN)	ENSP00000343764.6:p.Ser16886Cys
ENST00000342175.11:c.31742C>G (TTN)	ENSP00000340554.6:p.Ser10581Cys
ENST00000359218.10:c.31541C>G (TTN)	ENSP00000352154.5:p.Ser10514Cys
ENST00000342175.10:c.31742C>G (TTN)	ENSP00000340554.6:p.Ser10581Cys
ENST00000342992.10:c.50657C>G (TTN)	ENSP00000343764.6:p.Ser16886Cys
ENST00000359218.9:c.31541C>G (TTN)	ENSP00000352154.5:p.Ser10514Cys
ENST00000460472.6:c.31166C>G (TTN)	ENSP00000434586.1:p.Ser10389Cys
ENST00000589042.5:c.58361C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser19454Cys
ENST00000591111.5:c.53438C>G (TTN)	ENSP00000465570.1:p.Ser17813Cys
ENST00000615779.4:c.53438C>G (TTN)	ENSP00000483597.1:p.Ser17813Cys
NM_001256850.1:c.53438C>G (TTN)	NP_001243779.1:p.Ser17813Cys
NM_001267550.2:c.58361C>G (TTN) MANE Select	NP_001254479.2:p.Ser19454Cys
NM_003319.4:c.31166C>G (TTN)	NP_003310.4:p.Ser10389Cys
NM_133378.4:c.50657C>G (TTN)	NP_596869.4:p.Ser16886Cys
NM_133432.3:c.31541C>G (TTN)	NP_597676.3:p.Ser10514Cys
NM_133437.4:c.31742C>G (TTN)	NP_597681.4:p.Ser10581Cys
NR_038271.1:n.597-3564G>C (TTN-AS1)
NR_038272.1:n.3364+2718G>C (TTN-AS1)
XM_011511729.1:c.57458C>G (TTN)	XP_011510031.1:p.Ser19153Cys
XM_011511730.1:c.31352C>G (TTN)	XP_011510032.1:p.Ser10451Cys
XM_011511731.1:c.31211C>G (TTN)	XP_011510033.1:p.Ser10404Cys
XM_017004819.1:c.57254C>G (TTN)	XP_016860308.1:p.Ser19085Cys
XM_017004820.1:c.52652C>G (TTN)	XP_016860309.1:p.Ser17551Cys
XM_017004821.1:c.52649C>G (TTN)	XP_016860310.1:p.Ser17550Cys
XM_017004822.1:c.49691C>G (TTN)	XP_016860311.1:p.Ser16564Cys
XM_017004823.1:c.31307C>G (TTN)	XP_016860312.1:p.Ser10436Cys
XM_024453094.1:c.52802C>G (TTN)	XP_024308862.1:p.Ser17601Cys
XM_024453095.1:c.52799C>G (TTN)	XP_024308863.1:p.Ser17600Cys
XM_024453096.1:c.52232C>G (TTN)	XP_024308864.1:p.Ser17411Cys
XM_024453097.1:c.49574C>G (TTN)	XP_024308865.1:p.Ser16525Cys
XM_024453098.1:c.49493C>G (TTN)	XP_024308866.1:p.Ser16498Cys
XM_024453099.1:c.31256C>G (TTN)	XP_024308867.1:p.Ser10419Cys
XM_024453100.1:c.21110C>G (TTN)	XP_024308868.1:p.Ser7037Cys