Canonical Allele Identifier: CA60959765

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 514862
• ClinVar RCV Id: RCV000603355 ; RCV001220251
• dbSNP Id: rs371930491
• gnomAD v4: 2-178534923-G-A
• MyVariant Identifiers: chr2:g.179399650G>A (hg19) ; chr2:g.178534923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534923G>A , CM000664.2:g.178534923G>A	GRCh38
NC_000002.11:g.179399650G>A , CM000664.1:g.179399650G>A	GRCh37
NC_000002.10:g.179107896G>A	NCBI36
NG_011618.3:g.300880C>T , LRG_391:g.300880C>T
NG_051363.1:g.17097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93988C>T (TTN)	ENSP00000343764.6:p.Leu31330Phe
ENST00000342175.11:c.75073C>T (TTN)	ENSP00000340554.6:p.Leu25025Phe
ENST00000359218.10:c.74872C>T (TTN)	ENSP00000352154.5:p.Leu24958Phe
ENST00000342175.10:c.75073C>T (TTN)	ENSP00000340554.6:p.Leu25025Phe
ENST00000342992.10:c.93988C>T (TTN)	ENSP00000343764.6:p.Leu31330Phe
ENST00000359218.9:c.74872C>T (TTN)	ENSP00000352154.5:p.Leu24958Phe
ENST00000460472.6:c.74497C>T (TTN)	ENSP00000434586.1:p.Leu24833Phe
ENST00000589042.5:c.101692C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu33898Phe
ENST00000591111.5:c.96769C>T (TTN)	ENSP00000465570.1:p.Leu32257Phe
ENST00000615779.4:c.96769C>T (TTN)	ENSP00000483597.1:p.Leu32257Phe
NM_001256850.1:c.96769C>T (TTN)	NP_001243779.1:p.Leu32257Phe
NM_001267550.2:c.101692C>T (TTN) MANE Select	NP_001254479.2:p.Leu33898Phe
NM_003319.4:c.74497C>T (TTN)	NP_003310.4:p.Leu24833Phe
NM_133378.4:c.93988C>T (TTN)	NP_596869.4:p.Leu31330Phe
NM_133432.3:c.74872C>T (TTN)	NP_597676.3:p.Leu24958Phe
NM_133437.4:c.75073C>T (TTN)	NP_597681.4:p.Leu25025Phe
NR_038271.1:n.446+11287G>A (TTN-AS1)
NR_038272.1:n.220-809G>A (TTN-AS1)
XM_011511729.1:c.100789C>T (TTN)	XP_011510031.1:p.Leu33597Phe
XM_011511730.1:c.74683C>T (TTN)	XP_011510032.1:p.Leu24895Phe
XM_011511731.1:c.74542C>T (TTN)	XP_011510033.1:p.Leu24848Phe
XM_017004819.1:c.100585C>T (TTN)	XP_016860308.1:p.Leu33529Phe
XM_017004820.1:c.95983C>T (TTN)	XP_016860309.1:p.Leu31995Phe
XM_017004821.1:c.95980C>T (TTN)	XP_016860310.1:p.Leu31994Phe
XM_017004822.1:c.93022C>T (TTN)	XP_016860311.1:p.Leu31008Phe
XM_017004823.1:c.74638C>T (TTN)	XP_016860312.1:p.Leu24880Phe
XM_024453094.1:c.96133C>T (TTN)	XP_024308862.1:p.Leu32045Phe
XM_024453095.1:c.96130C>T (TTN)	XP_024308863.1:p.Leu32044Phe
XM_024453096.1:c.95563C>T (TTN)	XP_024308864.1:p.Leu31855Phe
XM_024453097.1:c.92905C>T (TTN)	XP_024308865.1:p.Leu30969Phe
XM_024453098.1:c.92824C>T (TTN)	XP_024308866.1:p.Leu30942Phe
XM_024453099.1:c.74587C>T (TTN)	XP_024308867.1:p.Leu24863Phe
XM_024453100.1:c.64441C>T (TTN)	XP_024308868.1:p.Leu21481Phe