Canonical Allele Identifier: CA1139657379

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 915675
• ClinVar RCV Id: RCV001170754
• dbSNP Id: rs1695802877

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543881dup , CM000664.2:g.178543881dup	GRCh38
NC_000002.11:g.179408608dup , CM000664.1:g.179408608dup	GRCh37
NC_000002.10:g.179116854dup	NCBI36
NG_011618.3:g.291925dup , LRG_391:g.291925dup
NG_051363.1:g.26055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88562dup (TTN)	ENSP00000343764.6:p.Asn29521LysfsTer13
ENST00000342175.11:c.69647dup (TTN)	ENSP00000340554.6:p.Asn23216LysfsTer13
ENST00000359218.10:c.69446dup (TTN)	ENSP00000352154.5:p.Asn23149LysfsTer13
ENST00000342175.10:c.69647dup (TTN)	ENSP00000340554.6:p.Asn23216LysfsTer13
ENST00000342992.10:c.88562dup (TTN)	ENSP00000343764.6:p.Asn29521LysfsTer13
ENST00000359218.9:c.69446dup (TTN)	ENSP00000352154.5:p.Asn23149LysfsTer13
ENST00000460472.6:c.69071dup (TTN)	ENSP00000434586.1:p.Asn23024LysfsTer13
ENST00000589042.5:c.96266dup (TTN) MANE Select	ENSP00000467141.1:p.Asn32089LysfsTer13
ENST00000591111.5:c.91343dup (TTN)	ENSP00000465570.1:p.Asn30448LysfsTer13
ENST00000615779.4:c.91343dup (TTN)	ENSP00000483597.1:p.Asn30448LysfsTer13
NM_001256850.1:c.91343dup (TTN)	NP_001243779.1:p.Asn30448LysfsTer13
NM_001267550.2:c.96266dup (TTN) MANE Select	NP_001254479.2:p.Asn32089LysfsTer13
NM_003319.4:c.69071dup (TTN)	NP_003310.4:p.Asn23024LysfsTer13
NM_133378.4:c.88562dup (TTN)	NP_596869.4:p.Asn29521LysfsTer13
NM_133432.3:c.69446dup (TTN)	NP_597676.3:p.Asn23149LysfsTer13
NM_133437.4:c.69647dup (TTN)	NP_597681.4:p.Asn23216LysfsTer13
NR_038271.1:n.446+20245dup (TTN-AS1)
NR_038272.1:n.2043+1520dup (TTN-AS1)
XM_011511729.1:c.95363dup (TTN)	XP_011510031.1:p.Asn31788LysfsTer13
XM_011511730.1:c.69257dup (TTN)	XP_011510032.1:p.Asn23086LysfsTer13
XM_011511731.1:c.69116dup (TTN)	XP_011510033.1:p.Asn23039LysfsTer13
XM_017004819.1:c.95159dup (TTN)	XP_016860308.1:p.Asn31720LysfsTer13
XM_017004820.1:c.90557dup (TTN)	XP_016860309.1:p.Asn30186LysfsTer13
XM_017004821.1:c.90554dup (TTN)	XP_016860310.1:p.Asn30185LysfsTer13
XM_017004822.1:c.87596dup (TTN)	XP_016860311.1:p.Asn29199LysfsTer13
XM_017004823.1:c.69212dup (TTN)	XP_016860312.1:p.Asn23071LysfsTer13
XM_024453094.1:c.90707dup (TTN)	XP_024308862.1:p.Asn30236LysfsTer13
XM_024453095.1:c.90704dup (TTN)	XP_024308863.1:p.Asn30235LysfsTer13
XM_024453096.1:c.90137dup (TTN)	XP_024308864.1:p.Asn30046LysfsTer13
XM_024453097.1:c.87479dup (TTN)	XP_024308865.1:p.Asn29160LysfsTer13
XM_024453098.1:c.87398dup (TTN)	XP_024308866.1:p.Asn29133LysfsTer13
XM_024453099.1:c.69161dup (TTN)	XP_024308867.1:p.Asn23054LysfsTer13
XM_024453100.1:c.59015dup (TTN)	XP_024308868.1:p.Asn19672LysfsTer13