Canonical Allele Identifier: CA1139657376

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 968568
• ClinVar RCV Id: RCV001243734
• dbSNP Id: rs1687011687

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527627_178527628delinsTT , CM000664.2:g.178527627_178527628delinsTT	GRCh38
NC_000002.11:g.179392354_179392355delinsTT , CM000664.1:g.179392354_179392355delinsTT	GRCh37
NC_000002.10:g.179100600_179100601delinsTT	NCBI36
NG_011618.3:g.308175_308176delinsAA , LRG_391:g.308175_308176delinsAA
NG_051363.1:g.9801_9802delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99794_99795delinsAA (TTN)	ENSP00000343764.6:p.Ser33265Lys
ENST00000342175.11:c.80879_80880delinsAA (TTN)	ENSP00000340554.6:p.Ser26960Lys
ENST00000359218.10:c.80678_80679delinsAA (TTN)	ENSP00000352154.5:p.Ser26893Lys
ENST00000342175.10:c.80879_80880delinsAA (TTN)	ENSP00000340554.6:p.Ser26960Lys
ENST00000342992.10:c.99794_99795delinsAA (TTN)	ENSP00000343764.6:p.Ser33265Lys
ENST00000359218.9:c.80678_80679delinsAA (TTN)	ENSP00000352154.5:p.Ser26893Lys
ENST00000460472.6:c.80303_80304delinsAA (TTN)	ENSP00000434586.1:p.Ser26768Lys
ENST00000589042.5:c.107498_107499delinsAA (TTN) MANE Select	ENSP00000467141.1:p.Ser35833Lys
ENST00000591111.5:c.102575_102576delinsAA (TTN)	ENSP00000465570.1:p.Ser34192Lys
ENST00000615779.4:c.102575_102576delinsAA (TTN)	ENSP00000483597.1:p.Ser34192Lys
NM_001256850.1:c.102575_102576delinsAA (TTN)	NP_001243779.1:p.Ser34192Lys
NM_001267550.2:c.107498_107499delinsAA (TTN) MANE Select	NP_001254479.2:p.Ser35833Lys
NM_003319.4:c.80303_80304delinsAA (TTN)	NP_003310.4:p.Ser26768Lys
NM_133378.4:c.99794_99795delinsAA (TTN)	NP_596869.4:p.Ser33265Lys
NM_133432.3:c.80678_80679delinsAA (TTN)	NP_597676.3:p.Ser26893Lys
NM_133437.4:c.80879_80880delinsAA (TTN)	NP_597681.4:p.Ser26960Lys
NR_038271.1:n.446+3991_446+3992delinsTT (TTN-AS1)
NR_038272.1:n.219+3991_219+3992delinsTT (TTN-AS1)
XM_011511729.1:c.106595_106596delinsAA (TTN)	XP_011510031.1:p.Ser35532Lys
XM_011511730.1:c.80489_80490delinsAA (TTN)	XP_011510032.1:p.Ser26830Lys
XM_011511731.1:c.80348_80349delinsAA (TTN)	XP_011510033.1:p.Ser26783Lys
XM_017004819.1:c.106391_106392delinsAA (TTN)	XP_016860308.1:p.Ser35464Lys
XM_017004820.1:c.101789_101790delinsAA (TTN)	XP_016860309.1:p.Ser33930Lys
XM_017004821.1:c.101786_101787delinsAA (TTN)	XP_016860310.1:p.Ser33929Lys
XM_017004822.1:c.98828_98829delinsAA (TTN)	XP_016860311.1:p.Ser32943Lys
XM_017004823.1:c.80444_80445delinsAA (TTN)	XP_016860312.1:p.Ser26815Lys
XM_024453094.1:c.101939_101940delinsAA (TTN)	XP_024308862.1:p.Ser33980Lys
XM_024453095.1:c.101936_101937delinsAA (TTN)	XP_024308863.1:p.Ser33979Lys
XM_024453096.1:c.101369_101370delinsAA (TTN)	XP_024308864.1:p.Ser33790Lys
XM_024453097.1:c.98711_98712delinsAA (TTN)	XP_024308865.1:p.Ser32904Lys
XM_024453098.1:c.98630_98631delinsAA (TTN)	XP_024308866.1:p.Ser32877Lys
XM_024453099.1:c.80393_80394delinsAA (TTN)	XP_024308867.1:p.Ser26798Lys
XM_024453100.1:c.70247_70248delinsAA (TTN)	XP_024308868.1:p.Ser23416Lys