Canonical Allele Identifier: CA349512834

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM441604 ; COSM441605 ; COSM441606 ; COSM1482232
• MyVariant Identifiers: chr2:g.179417407C>T (hg19) ; chr2:g.178552680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552680C>T , CM000664.2:g.178552680C>T	GRCh38
NC_000002.11:g.179417407C>T , CM000664.1:g.179417407C>T	GRCh37
NC_000002.10:g.179125653C>T	NCBI36
NG_011618.3:g.283123G>A , LRG_391:g.283123G>A
NG_051363.1:g.34854C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82516G>A (TTN)	ENSP00000343764.6:p.Glu27506Lys
ENST00000342175.11:c.63601G>A (TTN)	ENSP00000340554.6:p.Glu21201Lys
ENST00000359218.10:c.63400G>A (TTN)	ENSP00000352154.5:p.Glu21134Lys
ENST00000342175.10:c.63601G>A (TTN)	ENSP00000340554.6:p.Glu21201Lys
ENST00000342992.10:c.82516G>A (TTN)	ENSP00000343764.6:p.Glu27506Lys
ENST00000359218.9:c.63400G>A (TTN)	ENSP00000352154.5:p.Glu21134Lys
ENST00000460472.6:c.63025G>A (TTN)	ENSP00000434586.1:p.Glu21009Lys
ENST00000589042.5:c.90220G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu30074Lys
ENST00000591111.5:c.85297G>A (TTN)	ENSP00000465570.1:p.Glu28433Lys
ENST00000615779.4:c.85297G>A (TTN)	ENSP00000483597.1:p.Glu28433Lys
NM_001256850.1:c.85297G>A (TTN)	NP_001243779.1:p.Glu28433Lys
NM_001267550.2:c.90220G>A (TTN) MANE Select	NP_001254479.2:p.Glu30074Lys
NM_003319.4:c.63025G>A (TTN)	NP_003310.4:p.Glu21009Lys
NM_133378.4:c.82516G>A (TTN)	NP_596869.4:p.Glu27506Lys
NM_133432.3:c.63400G>A (TTN)	NP_597676.3:p.Glu21134Lys
NM_133437.4:c.63601G>A (TTN)	NP_597681.4:p.Glu21201Lys
NR_038271.1:n.447-18620C>T (TTN-AS1)
NR_038272.1:n.2043+10319C>T (TTN-AS1)
XM_011511729.1:c.89317G>A (TTN)	XP_011510031.1:p.Glu29773Lys
XM_011511730.1:c.63211G>A (TTN)	XP_011510032.1:p.Glu21071Lys
XM_011511731.1:c.63070G>A (TTN)	XP_011510033.1:p.Glu21024Lys
XM_017004819.1:c.89113G>A (TTN)	XP_016860308.1:p.Glu29705Lys
XM_017004820.1:c.84511G>A (TTN)	XP_016860309.1:p.Glu28171Lys
XM_017004821.1:c.84508G>A (TTN)	XP_016860310.1:p.Glu28170Lys
XM_017004822.1:c.81550G>A (TTN)	XP_016860311.1:p.Glu27184Lys
XM_017004823.1:c.63166G>A (TTN)	XP_016860312.1:p.Glu21056Lys
XM_024453094.1:c.84661G>A (TTN)	XP_024308862.1:p.Glu28221Lys
XM_024453095.1:c.84658G>A (TTN)	XP_024308863.1:p.Glu28220Lys
XM_024453096.1:c.84091G>A (TTN)	XP_024308864.1:p.Glu28031Lys
XM_024453097.1:c.81433G>A (TTN)	XP_024308865.1:p.Glu27145Lys
XM_024453098.1:c.81352G>A (TTN)	XP_024308866.1:p.Glu27118Lys
XM_024453099.1:c.63115G>A (TTN)	XP_024308867.1:p.Glu21039Lys
XM_024453100.1:c.52969G>A (TTN)	XP_024308868.1:p.Glu17657Lys