Canonical Allele Identifier: CA349507146

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM3572108 ; COSM3572109 ; COSM3572110 ; COSM3572111
• MyVariant Identifiers: chr2:g.179458760A>C (hg19) ; chr2:g.178594033A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.50656T>G (TTN)	ENSP00000343764.6:p.Ser16886Ala
ENST00000342175.11:c.31741T>G (TTN)	ENSP00000340554.6:p.Ser10581Ala
ENST00000359218.10:c.31540T>G (TTN)	ENSP00000352154.5:p.Ser10514Ala
ENST00000342175.10:c.31741T>G (TTN)	ENSP00000340554.6:p.Ser10581Ala
ENST00000342992.10:c.50656T>G (TTN)	ENSP00000343764.6:p.Ser16886Ala
ENST00000359218.9:c.31540T>G (TTN)	ENSP00000352154.5:p.Ser10514Ala
ENST00000460472.6:c.31165T>G (TTN)	ENSP00000434586.1:p.Ser10389Ala
ENST00000589042.5:c.58360T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser19454Ala
ENST00000591111.5:c.53437T>G (TTN)	ENSP00000465570.1:p.Ser17813Ala
ENST00000615779.4:c.53437T>G (TTN)	ENSP00000483597.1:p.Ser17813Ala
NM_001256850.1:c.53437T>G (TTN)	NP_001243779.1:p.Ser17813Ala
NM_001267550.2:c.58360T>G (TTN) MANE Select	NP_001254479.2:p.Ser19454Ala
NM_003319.4:c.31165T>G (TTN)	NP_003310.4:p.Ser10389Ala
NM_133378.4:c.50656T>G (TTN)	NP_596869.4:p.Ser16886Ala
NM_133432.3:c.31540T>G (TTN)	NP_597676.3:p.Ser10514Ala
NM_133437.4:c.31741T>G (TTN)	NP_597681.4:p.Ser10581Ala
NR_038271.1:n.597-3563A>C (TTN-AS1)
NR_038272.1:n.3364+2719A>C (TTN-AS1)
XM_011511729.1:c.57457T>G (TTN)	XP_011510031.1:p.Ser19153Ala
XM_011511730.1:c.31351T>G (TTN)	XP_011510032.1:p.Ser10451Ala
XM_011511731.1:c.31210T>G (TTN)	XP_011510033.1:p.Ser10404Ala
XM_017004819.1:c.57253T>G (TTN)	XP_016860308.1:p.Ser19085Ala
XM_017004820.1:c.52651T>G (TTN)	XP_016860309.1:p.Ser17551Ala
XM_017004821.1:c.52648T>G (TTN)	XP_016860310.1:p.Ser17550Ala
XM_017004822.1:c.49690T>G (TTN)	XP_016860311.1:p.Ser16564Ala
XM_017004823.1:c.31306T>G (TTN)	XP_016860312.1:p.Ser10436Ala
XM_024453094.1:c.52801T>G (TTN)	XP_024308862.1:p.Ser17601Ala
XM_024453095.1:c.52798T>G (TTN)	XP_024308863.1:p.Ser17600Ala
XM_024453096.1:c.52231T>G (TTN)	XP_024308864.1:p.Ser17411Ala
XM_024453097.1:c.49573T>G (TTN)	XP_024308865.1:p.Ser16525Ala
XM_024453098.1:c.49492T>G (TTN)	XP_024308866.1:p.Ser16498Ala
XM_024453099.1:c.31255T>G (TTN)	XP_024308867.1:p.Ser10419Ala
XM_024453100.1:c.21109T>G (TTN)	XP_024308868.1:p.Ser7037Ala