Canonical Allele Identifier: CA261880

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47113
• ClinVar RCV Id: RCV000040383 ; RCV001230770
• dbSNP Id: rs397517624
• gnomAD v4: 2-178599145-C-T
• MyVariant Identifiers: chr2:g.179463872C>T (hg19) ; chr2:g.178599145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599145C>T , CM000664.2:g.178599145C>T	GRCh38
NC_000002.11:g.179463872C>T , CM000664.1:g.179463872C>T	GRCh37
NC_000002.10:g.179172117C>T	NCBI36
NG_011618.3:g.236658G>A , LRG_391:g.236658G>A
NG_051363.1:g.81319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.48943+1G>A (TTN)	ENSP00000343764.6:n.48943+1G>A
ENST00000342175.11:c.30028+1G>A (TTN)	ENSP00000340554.6:n.30028+1G>A
ENST00000359218.10:c.29827+1G>A (TTN)	ENSP00000352154.5:n.29827+1G>A
ENST00000342175.10:c.30028+1G>A (TTN)	ENSP00000340554.6:n.30028+1G>A
ENST00000342992.10:c.48943+1G>A (TTN)	ENSP00000343764.6:n.48943+1G>A
ENST00000359218.9:c.29827+1G>A (TTN)	ENSP00000352154.5:n.29827+1G>A
ENST00000460472.6:c.29452+1G>A (TTN)	ENSP00000434586.1:n.29452+1G>A
ENST00000589042.5:c.56647+1G>A (TTN) MANE Select	ENSP00000467141.1:n.56647+1G>A
ENST00000591111.5:c.51724+1G>A (TTN)	ENSP00000465570.1:n.51724+1G>A
ENST00000615779.4:c.51724+1G>A (TTN)	ENSP00000483597.1:n.51724+1G>A
NM_001256850.1:c.51724+1G>A (TTN)	NP_001243779.1:n.51724+1G>A
NM_001267550.2:c.56647+1G>A (TTN) MANE Select	NP_001254479.2:n.56647+1G>A
NM_003319.4:c.29452+1G>A (TTN)	NP_003310.4:n.29452+1G>A
NM_133378.4:c.48943+1G>A (TTN)	NP_596869.4:n.48943+1G>A
NM_133432.3:c.29827+1G>A (TTN)	NP_597676.3:n.29827+1G>A
NM_133437.4:c.30028+1G>A (TTN)	NP_597681.4:n.30028+1G>A
NR_038271.1:n.682+1464C>T (TTN-AS1)
NR_038272.1:n.3569-449C>T (TTN-AS1)
XM_011511729.1:c.55744+1G>A (TTN)	XP_011510031.1:n.55744+1G>A
XM_011511730.1:c.29638+1G>A (TTN)	XP_011510032.1:n.29638+1G>A
XM_011511731.1:c.29497+1G>A (TTN)	XP_011510033.1:n.29497+1G>A
XM_017004819.1:c.55540+1G>A (TTN)	XP_016860308.1:n.55540+1G>A
XM_017004820.1:c.50938+1G>A (TTN)	XP_016860309.1:n.50938+1G>A
XM_017004821.1:c.50935+1G>A (TTN)	XP_016860310.1:n.50935+1G>A
XM_017004822.1:c.47977+1G>A (TTN)	XP_016860311.1:n.47977+1G>A
XM_017004823.1:c.29593+1G>A (TTN)	XP_016860312.1:n.29593+1G>A
XM_024453094.1:c.51088+1G>A (TTN)	XP_024308862.1:n.51088+1G>A
XM_024453095.1:c.51085+1G>A (TTN)	XP_024308863.1:n.51085+1G>A
XM_024453096.1:c.50518+1G>A (TTN)	XP_024308864.1:n.50518+1G>A
XM_024453097.1:c.47860+1G>A (TTN)	XP_024308865.1:n.47860+1G>A
XM_024453098.1:c.47779+1G>A (TTN)	XP_024308866.1:n.47779+1G>A
XM_024453099.1:c.29542+1G>A (TTN)	XP_024308867.1:n.29542+1G>A
XM_024453100.1:c.19396+1G>A (TTN)	XP_024308868.1:n.19396+1G>A