Canonical Allele Identifier: CA349450990

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM717392 ; COSM717393 ; COSM717394 ; COSM1148497
• MyVariant Identifiers: chr2:g.179408626T>G (hg19) ; chr2:g.178543899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543899T>G , CM000664.2:g.178543899T>G	GRCh38
NC_000002.11:g.179408626T>G , CM000664.1:g.179408626T>G	GRCh37
NC_000002.10:g.179116872T>G	NCBI36
NG_011618.3:g.291904A>C , LRG_391:g.291904A>C
NG_051363.1:g.26073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88541A>C (TTN)	ENSP00000343764.6:p.Lys29514Thr
ENST00000342175.11:c.69626A>C (TTN)	ENSP00000340554.6:p.Lys23209Thr
ENST00000359218.10:c.69425A>C (TTN)	ENSP00000352154.5:p.Lys23142Thr
ENST00000342175.10:c.69626A>C (TTN)	ENSP00000340554.6:p.Lys23209Thr
ENST00000342992.10:c.88541A>C (TTN)	ENSP00000343764.6:p.Lys29514Thr
ENST00000359218.9:c.69425A>C (TTN)	ENSP00000352154.5:p.Lys23142Thr
ENST00000460472.6:c.69050A>C (TTN)	ENSP00000434586.1:p.Lys23017Thr
ENST00000589042.5:c.96245A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys32082Thr
ENST00000591111.5:c.91322A>C (TTN)	ENSP00000465570.1:p.Lys30441Thr
ENST00000615779.4:c.91322A>C (TTN)	ENSP00000483597.1:p.Lys30441Thr
NM_001256850.1:c.91322A>C (TTN)	NP_001243779.1:p.Lys30441Thr
NM_001267550.2:c.96245A>C (TTN) MANE Select	NP_001254479.2:p.Lys32082Thr
NM_003319.4:c.69050A>C (TTN)	NP_003310.4:p.Lys23017Thr
NM_133378.4:c.88541A>C (TTN)	NP_596869.4:p.Lys29514Thr
NM_133432.3:c.69425A>C (TTN)	NP_597676.3:p.Lys23142Thr
NM_133437.4:c.69626A>C (TTN)	NP_597681.4:p.Lys23209Thr
NR_038271.1:n.446+20263T>G (TTN-AS1)
NR_038272.1:n.2043+1538T>G (TTN-AS1)
XM_011511729.1:c.95342A>C (TTN)	XP_011510031.1:p.Lys31781Thr
XM_011511730.1:c.69236A>C (TTN)	XP_011510032.1:p.Lys23079Thr
XM_011511731.1:c.69095A>C (TTN)	XP_011510033.1:p.Lys23032Thr
XM_017004819.1:c.95138A>C (TTN)	XP_016860308.1:p.Lys31713Thr
XM_017004820.1:c.90536A>C (TTN)	XP_016860309.1:p.Lys30179Thr
XM_017004821.1:c.90533A>C (TTN)	XP_016860310.1:p.Lys30178Thr
XM_017004822.1:c.87575A>C (TTN)	XP_016860311.1:p.Lys29192Thr
XM_017004823.1:c.69191A>C (TTN)	XP_016860312.1:p.Lys23064Thr
XM_024453094.1:c.90686A>C (TTN)	XP_024308862.1:p.Lys30229Thr
XM_024453095.1:c.90683A>C (TTN)	XP_024308863.1:p.Lys30228Thr
XM_024453096.1:c.90116A>C (TTN)	XP_024308864.1:p.Lys30039Thr
XM_024453097.1:c.87458A>C (TTN)	XP_024308865.1:p.Lys29153Thr
XM_024453098.1:c.87377A>C (TTN)	XP_024308866.1:p.Lys29126Thr
XM_024453099.1:c.69140A>C (TTN)	XP_024308867.1:p.Lys23047Thr
XM_024453100.1:c.58994A>C (TTN)	XP_024308868.1:p.Lys19665Thr