Canonical Allele Identifier: CA310200

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202760
• ClinVar RCV Id: RCV002453678 ; RCV003147384 ; RCV003147385 ; RCV003147386 ; RCV003147387 ; RCV003147388 ; RCV003147389
• dbSNP Id: rs772498581
• ExAC: 2:179454146 G / T
• gnomAD v2: 2-179454146-G-T
• gnomAD v3: 2-178589419-G-T
• gnomAD v4: 2-178589419-G-T
• MyVariant Identifiers: chr2:g.179454146G>T (hg19) ; chr2:g.178589419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589419G>T , CM000664.2:g.178589419G>T	GRCh38
NC_000002.11:g.179454146G>T , CM000664.1:g.179454146G>T	GRCh37
NC_000002.10:g.179162392G>T	NCBI36
NG_011618.3:g.246384C>A , LRG_391:g.246384C>A
NG_051363.1:g.71593G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54602C>A (TTN)	ENSP00000343764.6:p.Pro18201Gln
ENST00000342175.11:c.35687C>A (TTN)	ENSP00000340554.6:p.Pro11896Gln
ENST00000359218.10:c.35486C>A (TTN)	ENSP00000352154.5:p.Pro11829Gln
ENST00000342175.10:c.35687C>A (TTN)	ENSP00000340554.6:p.Pro11896Gln
ENST00000342992.10:c.54602C>A (TTN)	ENSP00000343764.6:p.Pro18201Gln
ENST00000359218.9:c.35486C>A (TTN)	ENSP00000352154.5:p.Pro11829Gln
ENST00000460472.6:c.35111C>A (TTN)	ENSP00000434586.1:p.Pro11704Gln
ENST00000589042.5:c.62306C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro20769Gln
ENST00000591111.5:c.57383C>A (TTN)	ENSP00000465570.1:p.Pro19128Gln
ENST00000615779.4:c.57383C>A (TTN)	ENSP00000483597.1:p.Pro19128Gln
NM_001256850.1:c.57383C>A (TTN)	NP_001243779.1:p.Pro19128Gln
NM_001267550.2:c.62306C>A (TTN) MANE Select	NP_001254479.2:p.Pro20769Gln
NM_003319.4:c.35111C>A (TTN)	NP_003310.4:p.Pro11704Gln
NM_133378.4:c.54602C>A (TTN)	NP_596869.4:p.Pro18201Gln
NM_133432.3:c.35486C>A (TTN)	NP_597676.3:p.Pro11829Gln
NM_133437.4:c.35687C>A (TTN)	NP_597681.4:p.Pro11896Gln
NR_038271.1:n.597-8177G>T (TTN-AS1)
NR_038272.1:n.3189-1720G>T (TTN-AS1)
XM_011511729.1:c.61403C>A (TTN)	XP_011510031.1:p.Pro20468Gln
XM_011511730.1:c.35297C>A (TTN)	XP_011510032.1:p.Pro11766Gln
XM_011511731.1:c.35156C>A (TTN)	XP_011510033.1:p.Pro11719Gln
XM_017004819.1:c.61199C>A (TTN)	XP_016860308.1:p.Pro20400Gln
XM_017004820.1:c.56597C>A (TTN)	XP_016860309.1:p.Pro18866Gln
XM_017004821.1:c.56594C>A (TTN)	XP_016860310.1:p.Pro18865Gln
XM_017004822.1:c.53636C>A (TTN)	XP_016860311.1:p.Pro17879Gln
XM_017004823.1:c.35252C>A (TTN)	XP_016860312.1:p.Pro11751Gln
XM_024453094.1:c.56747C>A (TTN)	XP_024308862.1:p.Pro18916Gln
XM_024453095.1:c.56744C>A (TTN)	XP_024308863.1:p.Pro18915Gln
XM_024453096.1:c.56177C>A (TTN)	XP_024308864.1:p.Pro18726Gln
XM_024453097.1:c.53519C>A (TTN)	XP_024308865.1:p.Pro17840Gln
XM_024453098.1:c.53438C>A (TTN)	XP_024308866.1:p.Pro17813Gln
XM_024453099.1:c.35201C>A (TTN)	XP_024308867.1:p.Pro11734Gln
XM_024453100.1:c.25055C>A (TTN)	XP_024308868.1:p.Pro8352Gln