Canonical Allele Identifier: CA349604899

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478637T>G (hg19) ; chr2:g.178613910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613910T>G , CM000664.2:g.178613910T>G	GRCh38
NC_000002.11:g.179478637T>G , CM000664.1:g.179478637T>G	GRCh37
NC_000002.10:g.179186882T>G	NCBI36
NG_011618.3:g.221893A>C , LRG_391:g.221893A>C
NG_051363.1:g.96084T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41669A>C (TTN)	ENSP00000343764.6:p.Glu13890Ala
ENST00000342175.11:c.22754A>C (TTN)	ENSP00000340554.6:p.Glu7585Ala
ENST00000359218.10:c.22553A>C (TTN)	ENSP00000352154.5:p.Glu7518Ala
ENST00000342175.10:c.22754A>C (TTN)	ENSP00000340554.6:p.Glu7585Ala
ENST00000342992.10:c.41669A>C (TTN)	ENSP00000343764.6:p.Glu13890Ala
ENST00000359218.9:c.22553A>C (TTN)	ENSP00000352154.5:p.Glu7518Ala
ENST00000460472.6:c.22178A>C (TTN)	ENSP00000434586.1:p.Glu7393Ala
ENST00000589042.5:c.49373A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu16458Ala
ENST00000591111.5:c.44450A>C (TTN)	ENSP00000465570.1:p.Glu14817Ala
ENST00000615779.4:c.44450A>C (TTN)	ENSP00000483597.1:p.Glu14817Ala
NM_001256850.1:c.44450A>C (TTN)	NP_001243779.1:p.Glu14817Ala
NM_001267550.2:c.49373A>C (TTN) MANE Select	NP_001254479.2:p.Glu16458Ala
NM_003319.4:c.22178A>C (TTN)	NP_003310.4:p.Glu7393Ala
NM_133378.4:c.41669A>C (TTN)	NP_596869.4:p.Glu13890Ala
NM_133432.3:c.22553A>C (TTN)	NP_597676.3:p.Glu7518Ala
NM_133437.4:c.22754A>C (TTN)	NP_597681.4:p.Glu7585Ala
NR_038271.1:n.783-125T>G (TTN-AS1)
XM_011511729.1:c.48470A>C (TTN)	XP_011510031.1:p.Glu16157Ala
XM_011511730.1:c.22364A>C (TTN)	XP_011510032.1:p.Glu7455Ala
XM_011511731.1:c.22223A>C (TTN)	XP_011510033.1:p.Glu7408Ala
XM_017004819.1:c.48266A>C (TTN)	XP_016860308.1:p.Glu16089Ala
XM_017004820.1:c.43664A>C (TTN)	XP_016860309.1:p.Glu14555Ala
XM_017004821.1:c.43661A>C (TTN)	XP_016860310.1:p.Glu14554Ala
XM_017004822.1:c.40703A>C (TTN)	XP_016860311.1:p.Glu13568Ala
XM_017004823.1:c.22319A>C (TTN)	XP_016860312.1:p.Glu7440Ala
XM_024453094.1:c.43814A>C (TTN)	XP_024308862.1:p.Glu14605Ala
XM_024453095.1:c.43811A>C (TTN)	XP_024308863.1:p.Glu14604Ala
XM_024453096.1:c.43244A>C (TTN)	XP_024308864.1:p.Glu14415Ala
XM_024453097.1:c.40586A>C (TTN)	XP_024308865.1:p.Glu13529Ala
XM_024453098.1:c.40505A>C (TTN)	XP_024308866.1:p.Glu13502Ala
XM_024453099.1:c.22268A>C (TTN)	XP_024308867.1:p.Glu7423Ala
XM_024453100.1:c.12122A>C (TTN)	XP_024308868.1:p.Glu4041Ala