Canonical Allele Identifier: CA310055

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202711
• ClinVar RCV Id: RCV000184623 ; RCV002485244
• dbSNP Id: rs369438623
• ExAC: 2:179469623 G / A
• gnomAD v2: 2-179469623-G-A
• gnomAD v3: 2-178604896-G-A
• gnomAD v4: 2-178604896-G-A
• MyVariant Identifiers: chr2:g.179469623G>A (hg19) ; chr2:g.178604896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178604896G>A , CM000664.2:g.178604896G>A	GRCh38
NC_000002.11:g.179469623G>A , CM000664.1:g.179469623G>A	GRCh37
NC_000002.10:g.179177868G>A	NCBI36
NG_011618.3:g.230907C>T , LRG_391:g.230907C>T
NG_051363.1:g.87070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46489C>T (TTN)	ENSP00000343764.6:p.Arg15497Cys
ENST00000342175.11:c.27574C>T (TTN)	ENSP00000340554.6:p.Arg9192Cys
ENST00000359218.10:c.27373C>T (TTN)	ENSP00000352154.5:p.Arg9125Cys
ENST00000342175.10:c.27574C>T (TTN)	ENSP00000340554.6:p.Arg9192Cys
ENST00000342992.10:c.46489C>T (TTN)	ENSP00000343764.6:p.Arg15497Cys
ENST00000359218.9:c.27373C>T (TTN)	ENSP00000352154.5:p.Arg9125Cys
ENST00000460472.6:c.26998C>T (TTN)	ENSP00000434586.1:p.Arg9000Cys
ENST00000589042.5:c.54193C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg18065Cys
ENST00000591111.5:c.49270C>T (TTN)	ENSP00000465570.1:p.Arg16424Cys
ENST00000615779.4:c.49270C>T (TTN)	ENSP00000483597.1:p.Arg16424Cys
NM_001256850.1:c.49270C>T (TTN)	NP_001243779.1:p.Arg16424Cys
NM_001267550.2:c.54193C>T (TTN) MANE Select	NP_001254479.2:p.Arg18065Cys
NM_003319.4:c.26998C>T (TTN)	NP_003310.4:p.Arg9000Cys
NM_133378.4:c.46489C>T (TTN)	NP_596869.4:p.Arg15497Cys
NM_133432.3:c.27373C>T (TTN)	NP_597676.3:p.Arg9125Cys
NM_133437.4:c.27574C>T (TTN)	NP_597681.4:p.Arg9192Cys
NR_038271.1:n.683-3271G>A (TTN-AS1)
NR_038272.1:n.4083G>A (TTN-AS1)
XM_011511729.1:c.53290C>T (TTN)	XP_011510031.1:p.Arg17764Cys
XM_011511730.1:c.27184C>T (TTN)	XP_011510032.1:p.Arg9062Cys
XM_011511731.1:c.27043C>T (TTN)	XP_011510033.1:p.Arg9015Cys
XM_017004819.1:c.53086C>T (TTN)	XP_016860308.1:p.Arg17696Cys
XM_017004820.1:c.48484C>T (TTN)	XP_016860309.1:p.Arg16162Cys
XM_017004821.1:c.48481C>T (TTN)	XP_016860310.1:p.Arg16161Cys
XM_017004822.1:c.45523C>T (TTN)	XP_016860311.1:p.Arg15175Cys
XM_017004823.1:c.27139C>T (TTN)	XP_016860312.1:p.Arg9047Cys
XM_024453094.1:c.48634C>T (TTN)	XP_024308862.1:p.Arg16212Cys
XM_024453095.1:c.48631C>T (TTN)	XP_024308863.1:p.Arg16211Cys
XM_024453096.1:c.48064C>T (TTN)	XP_024308864.1:p.Arg16022Cys
XM_024453097.1:c.45406C>T (TTN)	XP_024308865.1:p.Arg15136Cys
XM_024453098.1:c.45325C>T (TTN)	XP_024308866.1:p.Arg15109Cys
XM_024453099.1:c.27088C>T (TTN)	XP_024308867.1:p.Arg9030Cys
XM_024453100.1:c.16942C>T (TTN)	XP_024308868.1:p.Arg5648Cys