Canonical Allele Identifier: CA349507159

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458760A>T (hg19) ; chr2:g.178594033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594033A>T , CM000664.2:g.178594033A>T	GRCh38
NC_000002.11:g.179458760A>T , CM000664.1:g.179458760A>T	GRCh37
NC_000002.10:g.179167006A>T	NCBI36
NG_011618.3:g.241770T>A , LRG_391:g.241770T>A
NG_051363.1:g.76207A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.50656T>A (TTN)	ENSP00000343764.6:p.Ser16886Thr
ENST00000342175.11:c.31741T>A (TTN)	ENSP00000340554.6:p.Ser10581Thr
ENST00000359218.10:c.31540T>A (TTN)	ENSP00000352154.5:p.Ser10514Thr
ENST00000342175.10:c.31741T>A (TTN)	ENSP00000340554.6:p.Ser10581Thr
ENST00000342992.10:c.50656T>A (TTN)	ENSP00000343764.6:p.Ser16886Thr
ENST00000359218.9:c.31540T>A (TTN)	ENSP00000352154.5:p.Ser10514Thr
ENST00000460472.6:c.31165T>A (TTN)	ENSP00000434586.1:p.Ser10389Thr
ENST00000589042.5:c.58360T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser19454Thr
ENST00000591111.5:c.53437T>A (TTN)	ENSP00000465570.1:p.Ser17813Thr
ENST00000615779.4:c.53437T>A (TTN)	ENSP00000483597.1:p.Ser17813Thr
NM_001256850.1:c.53437T>A (TTN)	NP_001243779.1:p.Ser17813Thr
NM_001267550.2:c.58360T>A (TTN) MANE Select	NP_001254479.2:p.Ser19454Thr
NM_003319.4:c.31165T>A (TTN)	NP_003310.4:p.Ser10389Thr
NM_133378.4:c.50656T>A (TTN)	NP_596869.4:p.Ser16886Thr
NM_133432.3:c.31540T>A (TTN)	NP_597676.3:p.Ser10514Thr
NM_133437.4:c.31741T>A (TTN)	NP_597681.4:p.Ser10581Thr
NR_038271.1:n.597-3563A>T (TTN-AS1)
NR_038272.1:n.3364+2719A>T (TTN-AS1)
XM_011511729.1:c.57457T>A (TTN)	XP_011510031.1:p.Ser19153Thr
XM_011511730.1:c.31351T>A (TTN)	XP_011510032.1:p.Ser10451Thr
XM_011511731.1:c.31210T>A (TTN)	XP_011510033.1:p.Ser10404Thr
XM_017004819.1:c.57253T>A (TTN)	XP_016860308.1:p.Ser19085Thr
XM_017004820.1:c.52651T>A (TTN)	XP_016860309.1:p.Ser17551Thr
XM_017004821.1:c.52648T>A (TTN)	XP_016860310.1:p.Ser17550Thr
XM_017004822.1:c.49690T>A (TTN)	XP_016860311.1:p.Ser16564Thr
XM_017004823.1:c.31306T>A (TTN)	XP_016860312.1:p.Ser10436Thr
XM_024453094.1:c.52801T>A (TTN)	XP_024308862.1:p.Ser17601Thr
XM_024453095.1:c.52798T>A (TTN)	XP_024308863.1:p.Ser17600Thr
XM_024453096.1:c.52231T>A (TTN)	XP_024308864.1:p.Ser17411Thr
XM_024453097.1:c.49573T>A (TTN)	XP_024308865.1:p.Ser16525Thr
XM_024453098.1:c.49492T>A (TTN)	XP_024308866.1:p.Ser16498Thr
XM_024453099.1:c.31255T>A (TTN)	XP_024308867.1:p.Ser10419Thr
XM_024453100.1:c.21109T>A (TTN)	XP_024308868.1:p.Ser7037Thr