Canonical Allele Identifier: CA275153

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 196149
• ClinVar RCV Id: RCV000176899 ; RCV000690273
• dbSNP Id: rs794727467
• MyVariant Identifiers: chr2:g.179419591C>A (hg19) ; chr2:g.178554864C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554864C>A , CM000664.2:g.178554864C>A	GRCh38
NC_000002.11:g.179419591C>A , CM000664.1:g.179419591C>A	GRCh37
NC_000002.10:g.179127837C>A	NCBI36
NG_011618.3:g.280939G>T , LRG_391:g.280939G>T
NG_051363.1:g.37038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80890+1G>T (TTN)	ENSP00000343764.6:n.80890+1G>T
ENST00000342175.11:c.61975+1G>T (TTN)	ENSP00000340554.6:n.61975+1G>T
ENST00000359218.10:c.61774+1G>T (TTN)	ENSP00000352154.5:n.61774+1G>T
ENST00000342175.10:c.61975+1G>T (TTN)	ENSP00000340554.6:n.61975+1G>T
ENST00000342992.10:c.80890+1G>T (TTN)	ENSP00000343764.6:n.80890+1G>T
ENST00000359218.9:c.61774+1G>T (TTN)	ENSP00000352154.5:n.61774+1G>T
ENST00000460472.6:c.61399+1G>T (TTN)	ENSP00000434586.1:n.61399+1G>T
ENST00000589042.5:c.88594+1G>T (TTN) MANE Select	ENSP00000467141.1:n.88594+1G>T
ENST00000591111.5:c.83671+1G>T (TTN)	ENSP00000465570.1:n.83671+1G>T
ENST00000615779.4:c.83671+1G>T (TTN)	ENSP00000483597.1:n.83671+1G>T
NM_001256850.1:c.83671+1G>T (TTN)	NP_001243779.1:n.83671+1G>T
NM_001267550.2:c.88594+1G>T (TTN) MANE Select	NP_001254479.2:n.88594+1G>T
NM_003319.4:c.61399+1G>T (TTN)	NP_003310.4:n.61399+1G>T
NM_133378.4:c.80890+1G>T (TTN)	NP_596869.4:n.80890+1G>T
NM_133432.3:c.61774+1G>T (TTN)	NP_597676.3:n.61774+1G>T
NM_133437.4:c.61975+1G>T (TTN)	NP_597681.4:n.61975+1G>T
NR_038271.1:n.447-16436C>A (TTN-AS1)
NR_038272.1:n.2043+12503C>A (TTN-AS1)
XM_011511729.1:c.87691+1G>T (TTN)	XP_011510031.1:n.87691+1G>T
XM_011511730.1:c.61585+1G>T (TTN)	XP_011510032.1:n.61585+1G>T
XM_011511731.1:c.61444+1G>T (TTN)	XP_011510033.1:n.61444+1G>T
XM_017004819.1:c.87487+1G>T (TTN)	XP_016860308.1:n.87487+1G>T
XM_017004820.1:c.82885+1G>T (TTN)	XP_016860309.1:n.82885+1G>T
XM_017004821.1:c.82882+1G>T (TTN)	XP_016860310.1:n.82882+1G>T
XM_017004822.1:c.79924+1G>T (TTN)	XP_016860311.1:n.79924+1G>T
XM_017004823.1:c.61540+1G>T (TTN)	XP_016860312.1:n.61540+1G>T
XM_024453094.1:c.83035+1G>T (TTN)	XP_024308862.1:n.83035+1G>T
XM_024453095.1:c.83032+1G>T (TTN)	XP_024308863.1:n.83032+1G>T
XM_024453096.1:c.82465+1G>T (TTN)	XP_024308864.1:n.82465+1G>T
XM_024453097.1:c.79807+1G>T (TTN)	XP_024308865.1:n.79807+1G>T
XM_024453098.1:c.79726+1G>T (TTN)	XP_024308866.1:n.79726+1G>T
XM_024453099.1:c.61489+1G>T (TTN)	XP_024308867.1:n.61489+1G>T
XM_024453100.1:c.51343+1G>T (TTN)	XP_024308868.1:n.51343+1G>T