Canonical Allele Identifier: CA60960301

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 498201
• ClinVar RCV Id: RCV000597986 ; RCV001485438 ; RCV002384294
• dbSNP Id: rs727503536
• gnomAD v4: 2-178535635-C-T
• MyVariant Identifiers: chr2:g.179400362C>T (hg19) ; chr2:g.178535635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535635C>T , CM000664.2:g.178535635C>T	GRCh38
NC_000002.11:g.179400362C>T , CM000664.1:g.179400362C>T	GRCh37
NC_000002.10:g.179108608C>T	NCBI36
NG_011618.3:g.300168G>A , LRG_391:g.300168G>A
NG_051363.1:g.17809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93276G>A (TTN)	ENSP00000343764.6:p.Glu31092=
ENST00000342175.11:c.74361G>A (TTN)	ENSP00000340554.6:p.Glu24787=
ENST00000359218.10:c.74160G>A (TTN)	ENSP00000352154.5:p.Glu24720=
ENST00000342175.10:c.74361G>A (TTN)	ENSP00000340554.6:p.Glu24787=
ENST00000342992.10:c.93276G>A (TTN)	ENSP00000343764.6:p.Glu31092=
ENST00000359218.9:c.74160G>A (TTN)	ENSP00000352154.5:p.Glu24720=
ENST00000460472.6:c.73785G>A (TTN)	ENSP00000434586.1:p.Glu24595=
ENST00000589042.5:c.100980G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu33660=
ENST00000591111.5:c.96057G>A (TTN)	ENSP00000465570.1:p.Glu32019=
ENST00000615779.4:c.96057G>A (TTN)	ENSP00000483597.1:p.Glu32019=
NM_001256850.1:c.96057G>A (TTN)	NP_001243779.1:p.Glu32019=
NM_001267550.2:c.100980G>A (TTN) MANE Select	NP_001254479.2:p.Glu33660=
NM_003319.4:c.73785G>A (TTN)	NP_003310.4:p.Glu24595=
NM_133378.4:c.93276G>A (TTN)	NP_596869.4:p.Glu31092=
NM_133432.3:c.74160G>A (TTN)	NP_597676.3:p.Glu24720=
NM_133437.4:c.74361G>A (TTN)	NP_597681.4:p.Glu24787=
NR_038271.1:n.446+11999C>T (TTN-AS1)
NR_038272.1:n.220-97C>T (TTN-AS1)
XM_011511729.1:c.100077G>A (TTN)	XP_011510031.1:p.Glu33359=
XM_011511730.1:c.73971G>A (TTN)	XP_011510032.1:p.Glu24657=
XM_011511731.1:c.73830G>A (TTN)	XP_011510033.1:p.Glu24610=
XM_017004819.1:c.99873G>A (TTN)	XP_016860308.1:p.Glu33291=
XM_017004820.1:c.95271G>A (TTN)	XP_016860309.1:p.Glu31757=
XM_017004821.1:c.95268G>A (TTN)	XP_016860310.1:p.Glu31756=
XM_017004822.1:c.92310G>A (TTN)	XP_016860311.1:p.Glu30770=
XM_017004823.1:c.73926G>A (TTN)	XP_016860312.1:p.Glu24642=
XM_024453094.1:c.95421G>A (TTN)	XP_024308862.1:p.Glu31807=
XM_024453095.1:c.95418G>A (TTN)	XP_024308863.1:p.Glu31806=
XM_024453096.1:c.94851G>A (TTN)	XP_024308864.1:p.Glu31617=
XM_024453097.1:c.92193G>A (TTN)	XP_024308865.1:p.Glu30731=
XM_024453098.1:c.92112G>A (TTN)	XP_024308866.1:p.Glu30704=
XM_024453099.1:c.73875G>A (TTN)	XP_024308867.1:p.Glu24625=
XM_024453100.1:c.63729G>A (TTN)	XP_024308868.1:p.Glu21243=