Canonical Allele Identifier: CA349479419

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455652T>G (hg19) ; chr2:g.178590925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590925T>G , CM000664.2:g.178590925T>G	GRCh38
NC_000002.11:g.179455652T>G , CM000664.1:g.179455652T>G	GRCh37
NC_000002.10:g.179163898T>G	NCBI36
NG_011618.3:g.244878A>C , LRG_391:g.244878A>C
NG_051363.1:g.73099T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53096A>C (TTN)	ENSP00000343764.6:p.His17699Pro
ENST00000342175.11:c.34181A>C (TTN)	ENSP00000340554.6:p.His11394Pro
ENST00000359218.10:c.33980A>C (TTN)	ENSP00000352154.5:p.His11327Pro
ENST00000342175.10:c.34181A>C (TTN)	ENSP00000340554.6:p.His11394Pro
ENST00000342992.10:c.53096A>C (TTN)	ENSP00000343764.6:p.His17699Pro
ENST00000359218.9:c.33980A>C (TTN)	ENSP00000352154.5:p.His11327Pro
ENST00000460472.6:c.33605A>C (TTN)	ENSP00000434586.1:p.His11202Pro
ENST00000589042.5:c.60800A>C (TTN) MANE Select	ENSP00000467141.1:p.His20267Pro
ENST00000591111.5:c.55877A>C (TTN)	ENSP00000465570.1:p.His18626Pro
ENST00000615779.4:c.55877A>C (TTN)	ENSP00000483597.1:p.His18626Pro
NM_001256850.1:c.55877A>C (TTN)	NP_001243779.1:p.His18626Pro
NM_001267550.2:c.60800A>C (TTN) MANE Select	NP_001254479.2:p.His20267Pro
NM_003319.4:c.33605A>C (TTN)	NP_003310.4:p.His11202Pro
NM_133378.4:c.53096A>C (TTN)	NP_596869.4:p.His17699Pro
NM_133432.3:c.33980A>C (TTN)	NP_597676.3:p.His11327Pro
NM_133437.4:c.34181A>C (TTN)	NP_597681.4:p.His11394Pro
NR_038271.1:n.597-6671T>G (TTN-AS1)
NR_038272.1:n.3189-214T>G (TTN-AS1)
XM_011511729.1:c.59897A>C (TTN)	XP_011510031.1:p.His19966Pro
XM_011511730.1:c.33791A>C (TTN)	XP_011510032.1:p.His11264Pro
XM_011511731.1:c.33650A>C (TTN)	XP_011510033.1:p.His11217Pro
XM_017004819.1:c.59693A>C (TTN)	XP_016860308.1:p.His19898Pro
XM_017004820.1:c.55091A>C (TTN)	XP_016860309.1:p.His18364Pro
XM_017004821.1:c.55088A>C (TTN)	XP_016860310.1:p.His18363Pro
XM_017004822.1:c.52130A>C (TTN)	XP_016860311.1:p.His17377Pro
XM_017004823.1:c.33746A>C (TTN)	XP_016860312.1:p.His11249Pro
XM_024453094.1:c.55241A>C (TTN)	XP_024308862.1:p.His18414Pro
XM_024453095.1:c.55238A>C (TTN)	XP_024308863.1:p.His18413Pro
XM_024453096.1:c.54671A>C (TTN)	XP_024308864.1:p.His18224Pro
XM_024453097.1:c.52013A>C (TTN)	XP_024308865.1:p.His17338Pro
XM_024453098.1:c.51932A>C (TTN)	XP_024308866.1:p.His17311Pro
XM_024453099.1:c.33695A>C (TTN)	XP_024308867.1:p.His11232Pro
XM_024453100.1:c.23549A>C (TTN)	XP_024308868.1:p.His7850Pro