Canonical Allele Identifier: CA1995169

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 548486
• ClinVar RCV Id: RCV000661953 ; RCV000661954 ; RCV000765570 ; RCV002261166
• dbSNP Id: rs775496863
• ExAC: 2:179483506 A / G
• gnomAD v2: 2-179483506-A-G
• gnomAD v3: 2-178618779-A-G
• gnomAD v4: 2-178618779-A-G
• MyVariant Identifiers: chr2:g.179483506A>G (hg19) ; chr2:g.178618779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618779A>G , CM000664.2:g.178618779A>G	GRCh38
NC_000002.11:g.179483506A>G , CM000664.1:g.179483506A>G	GRCh37
NC_000002.10:g.179191751A>G	NCBI36
NG_011618.3:g.217024T>C , LRG_391:g.217024T>C
NG_051363.1:g.100953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39067T>C (TTN)	ENSP00000343764.6:p.Tyr13023His
ENST00000342175.11:c.20152T>C (TTN)	ENSP00000340554.6:p.Tyr6718His
ENST00000359218.10:c.19951T>C (TTN)	ENSP00000352154.5:p.Tyr6651His
ENST00000342175.10:c.20152T>C (TTN)	ENSP00000340554.6:p.Tyr6718His
ENST00000342992.10:c.39067T>C (TTN)	ENSP00000343764.6:p.Tyr13023His
ENST00000359218.9:c.19951T>C (TTN)	ENSP00000352154.5:p.Tyr6651His
ENST00000460472.6:c.19576T>C (TTN)	ENSP00000434586.1:p.Tyr6526His
ENST00000589042.5:c.46771T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr15591His
ENST00000591111.5:c.41848T>C (TTN)	ENSP00000465570.1:p.Tyr13950His
ENST00000615779.4:c.41848T>C (TTN)	ENSP00000483597.1:p.Tyr13950His
NM_001256850.1:c.41848T>C (TTN)	NP_001243779.1:p.Tyr13950His
NM_001267550.2:c.46771T>C (TTN) MANE Select	NP_001254479.2:p.Tyr15591His
NM_003319.4:c.19576T>C (TTN)	NP_003310.4:p.Tyr6526His
NM_133378.4:c.39067T>C (TTN)	NP_596869.4:p.Tyr13023His
NM_133432.3:c.19951T>C (TTN)	NP_597676.3:p.Tyr6651His
NM_133437.4:c.20152T>C (TTN)	NP_597681.4:p.Tyr6718His
NR_038271.1:n.1605-974A>G (TTN-AS1)
XM_011511729.1:c.45868T>C (TTN)	XP_011510031.1:p.Tyr15290His
XM_011511730.1:c.19762T>C (TTN)	XP_011510032.1:p.Tyr6588His
XM_011511731.1:c.19621T>C (TTN)	XP_011510033.1:p.Tyr6541His
XM_017004819.1:c.45664T>C (TTN)	XP_016860308.1:p.Tyr15222His
XM_017004820.1:c.41062T>C (TTN)	XP_016860309.1:p.Tyr13688His
XM_017004821.1:c.41059T>C (TTN)	XP_016860310.1:p.Tyr13687His
XM_017004822.1:c.38101T>C (TTN)	XP_016860311.1:p.Tyr12701His
XM_017004823.1:c.19717T>C (TTN)	XP_016860312.1:p.Tyr6573His
XM_024453094.1:c.41212T>C (TTN)	XP_024308862.1:p.Tyr13738His
XM_024453095.1:c.41209T>C (TTN)	XP_024308863.1:p.Tyr13737His
XM_024453096.1:c.40642T>C (TTN)	XP_024308864.1:p.Tyr13548His
XM_024453097.1:c.37984T>C (TTN)	XP_024308865.1:p.Tyr12662His
XM_024453098.1:c.37903T>C (TTN)	XP_024308866.1:p.Tyr12635His
XM_024453099.1:c.19666T>C (TTN)	XP_024308867.1:p.Tyr6556His
XM_024453100.1:c.9520T>C (TTN)	XP_024308868.1:p.Tyr3174His