Canonical Allele Identifier: CA349507141

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.50657C>T (TTN)	ENSP00000343764.6:p.Ser16886Phe
ENST00000342175.11:c.31742C>T (TTN)	ENSP00000340554.6:p.Ser10581Phe
ENST00000359218.10:c.31541C>T (TTN)	ENSP00000352154.5:p.Ser10514Phe
ENST00000342175.10:c.31742C>T (TTN)	ENSP00000340554.6:p.Ser10581Phe
ENST00000342992.10:c.50657C>T (TTN)	ENSP00000343764.6:p.Ser16886Phe
ENST00000359218.9:c.31541C>T (TTN)	ENSP00000352154.5:p.Ser10514Phe
ENST00000460472.6:c.31166C>T (TTN)	ENSP00000434586.1:p.Ser10389Phe
ENST00000589042.5:c.58361C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser19454Phe
ENST00000591111.5:c.53438C>T (TTN)	ENSP00000465570.1:p.Ser17813Phe
ENST00000615779.4:c.53438C>T (TTN)	ENSP00000483597.1:p.Ser17813Phe
NM_001256850.1:c.53438C>T (TTN)	NP_001243779.1:p.Ser17813Phe
NM_001267550.2:c.58361C>T (TTN) MANE Select	NP_001254479.2:p.Ser19454Phe
NM_003319.4:c.31166C>T (TTN)	NP_003310.4:p.Ser10389Phe
NM_133378.4:c.50657C>T (TTN)	NP_596869.4:p.Ser16886Phe
NM_133432.3:c.31541C>T (TTN)	NP_597676.3:p.Ser10514Phe
NM_133437.4:c.31742C>T (TTN)	NP_597681.4:p.Ser10581Phe
NR_038271.1:n.597-3564G>A (TTN-AS1)
NR_038272.1:n.3364+2718G>A (TTN-AS1)
XM_011511729.1:c.57458C>T (TTN)	XP_011510031.1:p.Ser19153Phe
XM_011511730.1:c.31352C>T (TTN)	XP_011510032.1:p.Ser10451Phe
XM_011511731.1:c.31211C>T (TTN)	XP_011510033.1:p.Ser10404Phe
XM_017004819.1:c.57254C>T (TTN)	XP_016860308.1:p.Ser19085Phe
XM_017004820.1:c.52652C>T (TTN)	XP_016860309.1:p.Ser17551Phe
XM_017004821.1:c.52649C>T (TTN)	XP_016860310.1:p.Ser17550Phe
XM_017004822.1:c.49691C>T (TTN)	XP_016860311.1:p.Ser16564Phe
XM_017004823.1:c.31307C>T (TTN)	XP_016860312.1:p.Ser10436Phe
XM_024453094.1:c.52802C>T (TTN)	XP_024308862.1:p.Ser17601Phe
XM_024453095.1:c.52799C>T (TTN)	XP_024308863.1:p.Ser17600Phe
XM_024453096.1:c.52232C>T (TTN)	XP_024308864.1:p.Ser17411Phe
XM_024453097.1:c.49574C>T (TTN)	XP_024308865.1:p.Ser16525Phe
XM_024453098.1:c.49493C>T (TTN)	XP_024308866.1:p.Ser16498Phe
XM_024453099.1:c.31256C>T (TTN)	XP_024308867.1:p.Ser10419Phe
XM_024453100.1:c.21110C>T (TTN)	XP_024308868.1:p.Ser7037Phe