Canonical Allele Identifier: CA283849

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47382
• ClinVar RCV Id: RCV000040652 ; RCV000248890 ; RCV000274822 ; RCV000354181 ; RCV000329207 ; RCV000367101 ; RCV000391513 ; RCV000993492 ; RCV001513448
• dbSNP Id: rs3731746
• ExAC: 2:179430997 G / A
• gnomAD v2: 2-179430997-G-A
• gnomAD v3: 2-178566270-G-A
• gnomAD v4: 2-178566270-G-A
• MyVariant Identifiers: chr2:g.179430997G>A (hg19) ; chr2:g.178566270G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566270G>A , CM000664.2:g.178566270G>A	GRCh38
NC_000002.11:g.179430997G>A , CM000664.1:g.179430997G>A	GRCh37
NC_000002.10:g.179139243G>A	NCBI36
NG_011618.3:g.269533C>T , LRG_391:g.269533C>T
NG_051363.1:g.48444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72158C>T (TTN)	ENSP00000343764.6:p.Thr24053Met
ENST00000342175.11:c.53243C>T (TTN)	ENSP00000340554.6:p.Thr17748Met
ENST00000359218.10:c.53042C>T (TTN)	ENSP00000352154.5:p.Thr17681Met
ENST00000342175.10:c.53243C>T (TTN)	ENSP00000340554.6:p.Thr17748Met
ENST00000342992.10:c.72158C>T (TTN)	ENSP00000343764.6:p.Thr24053Met
ENST00000359218.9:c.53042C>T (TTN)	ENSP00000352154.5:p.Thr17681Met
ENST00000460472.6:c.52667C>T (TTN)	ENSP00000434586.1:p.Thr17556Met
ENST00000589042.5:c.79862C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr26621Met
ENST00000591111.5:c.74939C>T (TTN)	ENSP00000465570.1:p.Thr24980Met
ENST00000615779.4:c.74939C>T (TTN)	ENSP00000483597.1:p.Thr24980Met
NM_001256850.1:c.74939C>T (TTN)	NP_001243779.1:p.Thr24980Met
NM_001267550.2:c.79862C>T (TTN) MANE Select	NP_001254479.2:p.Thr26621Met
NM_003319.4:c.52667C>T (TTN)	NP_003310.4:p.Thr17556Met
NM_133378.4:c.72158C>T (TTN)	NP_596869.4:p.Thr24053Met
NM_133432.3:c.53042C>T (TTN)	NP_597676.3:p.Thr17681Met
NM_133437.4:c.53243C>T (TTN)	NP_597681.4:p.Thr17748Met
NR_038271.1:n.447-5030G>A (TTN-AS1)
NR_038272.1:n.2044-16302G>A (TTN-AS1)
XM_011511729.1:c.78959C>T (TTN)	XP_011510031.1:p.Thr26320Met
XM_011511730.1:c.52853C>T (TTN)	XP_011510032.1:p.Thr17618Met
XM_011511731.1:c.52712C>T (TTN)	XP_011510033.1:p.Thr17571Met
XM_017004819.1:c.78755C>T (TTN)	XP_016860308.1:p.Thr26252Met
XM_017004820.1:c.74153C>T (TTN)	XP_016860309.1:p.Thr24718Met
XM_017004821.1:c.74150C>T (TTN)	XP_016860310.1:p.Thr24717Met
XM_017004822.1:c.71192C>T (TTN)	XP_016860311.1:p.Thr23731Met
XM_017004823.1:c.52808C>T (TTN)	XP_016860312.1:p.Thr17603Met
XM_024453094.1:c.74303C>T (TTN)	XP_024308862.1:p.Thr24768Met
XM_024453095.1:c.74300C>T (TTN)	XP_024308863.1:p.Thr24767Met
XM_024453096.1:c.73733C>T (TTN)	XP_024308864.1:p.Thr24578Met
XM_024453097.1:c.71075C>T (TTN)	XP_024308865.1:p.Thr23692Met
XM_024453098.1:c.70994C>T (TTN)	XP_024308866.1:p.Thr23665Met
XM_024453099.1:c.52757C>T (TTN)	XP_024308867.1:p.Thr17586Met
XM_024453100.1:c.42611C>T (TTN)	XP_024308868.1:p.Thr14204Met