Canonical Allele Identifier: CA16604139

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 389160
• ClinVar RCV Id: RCV000427280 ; RCV001221206
• dbSNP Id: rs1057523344
• MyVariant Identifiers: chr2:g.179449626C>T (hg19) ; chr2:g.178584899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584899C>T , CM000664.2:g.178584899C>T	GRCh38
NC_000002.11:g.179449626C>T , CM000664.1:g.179449626C>T	GRCh37
NC_000002.10:g.179157872C>T	NCBI36
NG_011618.3:g.250904G>A , LRG_391:g.250904G>A
NG_051363.1:g.67073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57038G>A (TTN)	ENSP00000343764.6:p.Trp19013Ter
ENST00000342175.11:c.38123G>A (TTN)	ENSP00000340554.6:p.Trp12708Ter
ENST00000359218.10:c.37922G>A (TTN)	ENSP00000352154.5:p.Trp12641Ter
ENST00000342175.10:c.38123G>A (TTN)	ENSP00000340554.6:p.Trp12708Ter
ENST00000342992.10:c.57038G>A (TTN)	ENSP00000343764.6:p.Trp19013Ter
ENST00000359218.9:c.37922G>A (TTN)	ENSP00000352154.5:p.Trp12641Ter
ENST00000460472.6:c.37547G>A (TTN)	ENSP00000434586.1:p.Trp12516Ter
ENST00000589042.5:c.64742G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp21581Ter
ENST00000591111.5:c.59819G>A (TTN)	ENSP00000465570.1:p.Trp19940Ter
ENST00000615779.4:c.59819G>A (TTN)	ENSP00000483597.1:p.Trp19940Ter
NM_001256850.1:c.59819G>A (TTN)	NP_001243779.1:p.Trp19940Ter
NM_001267550.2:c.64742G>A (TTN) MANE Select	NP_001254479.2:p.Trp21581Ter
NM_003319.4:c.37547G>A (TTN)	NP_003310.4:p.Trp12516Ter
NM_133378.4:c.57038G>A (TTN)	NP_596869.4:p.Trp19013Ter
NM_133432.3:c.37922G>A (TTN)	NP_597676.3:p.Trp12641Ter
NM_133437.4:c.38123G>A (TTN)	NP_597681.4:p.Trp12708Ter
NR_038271.1:n.597-12697C>T (TTN-AS1)
NR_038272.1:n.3094C>T (TTN-AS1)
XM_011511729.1:c.63839G>A (TTN)	XP_011510031.1:p.Trp21280Ter
XM_011511730.1:c.37733G>A (TTN)	XP_011510032.1:p.Trp12578Ter
XM_011511731.1:c.37592G>A (TTN)	XP_011510033.1:p.Trp12531Ter
XM_017004819.1:c.63635G>A (TTN)	XP_016860308.1:p.Trp21212Ter
XM_017004820.1:c.59033G>A (TTN)	XP_016860309.1:p.Trp19678Ter
XM_017004821.1:c.59030G>A (TTN)	XP_016860310.1:p.Trp19677Ter
XM_017004822.1:c.56072G>A (TTN)	XP_016860311.1:p.Trp18691Ter
XM_017004823.1:c.37688G>A (TTN)	XP_016860312.1:p.Trp12563Ter
XM_024453094.1:c.59183G>A (TTN)	XP_024308862.1:p.Trp19728Ter
XM_024453095.1:c.59180G>A (TTN)	XP_024308863.1:p.Trp19727Ter
XM_024453096.1:c.58613G>A (TTN)	XP_024308864.1:p.Trp19538Ter
XM_024453097.1:c.55955G>A (TTN)	XP_024308865.1:p.Trp18652Ter
XM_024453098.1:c.55874G>A (TTN)	XP_024308866.1:p.Trp18625Ter
XM_024453099.1:c.37637G>A (TTN)	XP_024308867.1:p.Trp12546Ter
XM_024453100.1:c.27491G>A (TTN)	XP_024308868.1:p.Trp9164Ter