Canonical Allele Identifier: CA10613113

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332858
• ClinVar RCV Id: RCV000260380 ; RCV000280843 ; RCV000315704 ; RCV000374957 ; RCV000378459
• dbSNP Id: rs397517586
• gnomAD v4: 2-178618777-A-G
• MyVariant Identifiers: chr2:g.179483504A>G (hg19) ; chr2:g.178618777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618777A>G , CM000664.2:g.178618777A>G	GRCh38
NC_000002.11:g.179483504A>G , CM000664.1:g.179483504A>G	GRCh37
NC_000002.10:g.179191749A>G	NCBI36
NG_011618.3:g.217026T>C , LRG_391:g.217026T>C
NG_051363.1:g.100951A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39069T>C (TTN)	ENSP00000343764.6:p.Tyr13023=
ENST00000342175.11:c.20154T>C (TTN)	ENSP00000340554.6:p.Tyr6718=
ENST00000359218.10:c.19953T>C (TTN)	ENSP00000352154.5:p.Tyr6651=
ENST00000342175.10:c.20154T>C (TTN)	ENSP00000340554.6:p.Tyr6718=
ENST00000342992.10:c.39069T>C (TTN)	ENSP00000343764.6:p.Tyr13023=
ENST00000359218.9:c.19953T>C (TTN)	ENSP00000352154.5:p.Tyr6651=
ENST00000460472.6:c.19578T>C (TTN)	ENSP00000434586.1:p.Tyr6526=
ENST00000589042.5:c.46773T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr15591=
ENST00000591111.5:c.41850T>C (TTN)	ENSP00000465570.1:p.Tyr13950=
ENST00000615779.4:c.41850T>C (TTN)	ENSP00000483597.1:p.Tyr13950=
NM_001256850.1:c.41850T>C (TTN)	NP_001243779.1:p.Tyr13950=
NM_001267550.2:c.46773T>C (TTN) MANE Select	NP_001254479.2:p.Tyr15591=
NM_003319.4:c.19578T>C (TTN)	NP_003310.4:p.Tyr6526=
NM_133378.4:c.39069T>C (TTN)	NP_596869.4:p.Tyr13023=
NM_133432.3:c.19953T>C (TTN)	NP_597676.3:p.Tyr6651=
NM_133437.4:c.20154T>C (TTN)	NP_597681.4:p.Tyr6718=
NR_038271.1:n.1605-976A>G (TTN-AS1)
XM_011511729.1:c.45870T>C (TTN)	XP_011510031.1:p.Tyr15290=
XM_011511730.1:c.19764T>C (TTN)	XP_011510032.1:p.Tyr6588=
XM_011511731.1:c.19623T>C (TTN)	XP_011510033.1:p.Tyr6541=
XM_017004819.1:c.45666T>C (TTN)	XP_016860308.1:p.Tyr15222=
XM_017004820.1:c.41064T>C (TTN)	XP_016860309.1:p.Tyr13688=
XM_017004821.1:c.41061T>C (TTN)	XP_016860310.1:p.Tyr13687=
XM_017004822.1:c.38103T>C (TTN)	XP_016860311.1:p.Tyr12701=
XM_017004823.1:c.19719T>C (TTN)	XP_016860312.1:p.Tyr6573=
XM_024453094.1:c.41214T>C (TTN)	XP_024308862.1:p.Tyr13738=
XM_024453095.1:c.41211T>C (TTN)	XP_024308863.1:p.Tyr13737=
XM_024453096.1:c.40644T>C (TTN)	XP_024308864.1:p.Tyr13548=
XM_024453097.1:c.37986T>C (TTN)	XP_024308865.1:p.Tyr12662=
XM_024453098.1:c.37905T>C (TTN)	XP_024308866.1:p.Tyr12635=
XM_024453099.1:c.19668T>C (TTN)	XP_024308867.1:p.Tyr6556=
XM_024453100.1:c.9522T>C (TTN)	XP_024308868.1:p.Tyr3174=