Canonical Allele Identifier: CA349406911

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 846158
• ClinVar RCV Id: RCV001049395
• dbSNP Id: rs1170470596
• COSMIC: COSM4829040 ; COSM4829041 ; COSM4829042 ; COSM4829043
• MyVariant Identifiers: chr2:g.179395192C>T (hg19) ; chr2:g.178530465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530465C>T , CM000664.2:g.178530465C>T	GRCh38
NC_000002.11:g.179395192C>T , CM000664.1:g.179395192C>T	GRCh37
NC_000002.10:g.179103438C>T	NCBI36
NG_011618.3:g.305338G>A , LRG_391:g.305338G>A
NG_051363.1:g.12639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98446G>A (TTN)	ENSP00000343764.6:p.Glu32816Lys
ENST00000342175.11:c.79531G>A (TTN)	ENSP00000340554.6:p.Glu26511Lys
ENST00000359218.10:c.79330G>A (TTN)	ENSP00000352154.5:p.Glu26444Lys
ENST00000342175.10:c.79531G>A (TTN)	ENSP00000340554.6:p.Glu26511Lys
ENST00000342992.10:c.98446G>A (TTN)	ENSP00000343764.6:p.Glu32816Lys
ENST00000359218.9:c.79330G>A (TTN)	ENSP00000352154.5:p.Glu26444Lys
ENST00000460472.6:c.78955G>A (TTN)	ENSP00000434586.1:p.Glu26319Lys
ENST00000589042.5:c.106150G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu35384Lys
ENST00000591111.5:c.101227G>A (TTN)	ENSP00000465570.1:p.Glu33743Lys
ENST00000615779.4:c.101227G>A (TTN)	ENSP00000483597.1:p.Glu33743Lys
NM_001256850.1:c.101227G>A (TTN)	NP_001243779.1:p.Glu33743Lys
NM_001267550.2:c.106150G>A (TTN) MANE Select	NP_001254479.2:p.Glu35384Lys
NM_003319.4:c.78955G>A (TTN)	NP_003310.4:p.Glu26319Lys
NM_133378.4:c.98446G>A (TTN)	NP_596869.4:p.Glu32816Lys
NM_133432.3:c.79330G>A (TTN)	NP_597676.3:p.Glu26444Lys
NM_133437.4:c.79531G>A (TTN)	NP_597681.4:p.Glu26511Lys
NR_038271.1:n.446+6829C>T (TTN-AS1)
NR_038272.1:n.220-5267C>T (TTN-AS1)
XM_011511729.1:c.105247G>A (TTN)	XP_011510031.1:p.Glu35083Lys
XM_011511730.1:c.79141G>A (TTN)	XP_011510032.1:p.Glu26381Lys
XM_011511731.1:c.79000G>A (TTN)	XP_011510033.1:p.Glu26334Lys
XM_017004819.1:c.105043G>A (TTN)	XP_016860308.1:p.Glu35015Lys
XM_017004820.1:c.100441G>A (TTN)	XP_016860309.1:p.Glu33481Lys
XM_017004821.1:c.100438G>A (TTN)	XP_016860310.1:p.Glu33480Lys
XM_017004822.1:c.97480G>A (TTN)	XP_016860311.1:p.Glu32494Lys
XM_017004823.1:c.79096G>A (TTN)	XP_016860312.1:p.Glu26366Lys
XM_024453094.1:c.100591G>A (TTN)	XP_024308862.1:p.Glu33531Lys
XM_024453095.1:c.100588G>A (TTN)	XP_024308863.1:p.Glu33530Lys
XM_024453096.1:c.100021G>A (TTN)	XP_024308864.1:p.Glu33341Lys
XM_024453097.1:c.97363G>A (TTN)	XP_024308865.1:p.Glu32455Lys
XM_024453098.1:c.97282G>A (TTN)	XP_024308866.1:p.Glu32428Lys
XM_024453099.1:c.79045G>A (TTN)	XP_024308867.1:p.Glu26349Lys
XM_024453100.1:c.68899G>A (TTN)	XP_024308868.1:p.Glu22967Lys