Canonical Allele Identifier: CA349401143

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534963
• ClinVar RCV Id: RCV000642697 ; RCV000762291 ; RCV003987639
• dbSNP Id: rs1553478042
• gnomAD v4: 2-178527739-T-G
• MyVariant Identifiers: chr2:g.179392466T>G (hg19) ; chr2:g.178527739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527739T>G , CM000664.2:g.178527739T>G	GRCh38
NC_000002.11:g.179392466T>G , CM000664.1:g.179392466T>G	GRCh37
NC_000002.10:g.179100712T>G	NCBI36
NG_011618.3:g.308064A>C , LRG_391:g.308064A>C
NG_051363.1:g.9913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99683A>C (TTN)	ENSP00000343764.6:p.Glu33228Ala
ENST00000342175.11:c.80768A>C (TTN)	ENSP00000340554.6:p.Glu26923Ala
ENST00000359218.10:c.80567A>C (TTN)	ENSP00000352154.5:p.Glu26856Ala
ENST00000342175.10:c.80768A>C (TTN)	ENSP00000340554.6:p.Glu26923Ala
ENST00000342992.10:c.99683A>C (TTN)	ENSP00000343764.6:p.Glu33228Ala
ENST00000359218.9:c.80567A>C (TTN)	ENSP00000352154.5:p.Glu26856Ala
ENST00000460472.6:c.80192A>C (TTN)	ENSP00000434586.1:p.Glu26731Ala
ENST00000589042.5:c.107387A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35796Ala
ENST00000591111.5:c.102464A>C (TTN)	ENSP00000465570.1:p.Glu34155Ala
ENST00000615779.4:c.102464A>C (TTN)	ENSP00000483597.1:p.Glu34155Ala
NM_001256850.1:c.102464A>C (TTN)	NP_001243779.1:p.Glu34155Ala
NM_001267550.2:c.107387A>C (TTN) MANE Select	NP_001254479.2:p.Glu35796Ala
NM_003319.4:c.80192A>C (TTN)	NP_003310.4:p.Glu26731Ala
NM_133378.4:c.99683A>C (TTN)	NP_596869.4:p.Glu33228Ala
NM_133432.3:c.80567A>C (TTN)	NP_597676.3:p.Glu26856Ala
NM_133437.4:c.80768A>C (TTN)	NP_597681.4:p.Glu26923Ala
NR_038271.1:n.446+4103T>G (TTN-AS1)
NR_038272.1:n.219+4103T>G (TTN-AS1)
XM_011511729.1:c.106484A>C (TTN)	XP_011510031.1:p.Glu35495Ala
XM_011511730.1:c.80378A>C (TTN)	XP_011510032.1:p.Glu26793Ala
XM_011511731.1:c.80237A>C (TTN)	XP_011510033.1:p.Glu26746Ala
XM_017004819.1:c.106280A>C (TTN)	XP_016860308.1:p.Glu35427Ala
XM_017004820.1:c.101678A>C (TTN)	XP_016860309.1:p.Glu33893Ala
XM_017004821.1:c.101675A>C (TTN)	XP_016860310.1:p.Glu33892Ala
XM_017004822.1:c.98717A>C (TTN)	XP_016860311.1:p.Glu32906Ala
XM_017004823.1:c.80333A>C (TTN)	XP_016860312.1:p.Glu26778Ala
XM_024453094.1:c.101828A>C (TTN)	XP_024308862.1:p.Glu33943Ala
XM_024453095.1:c.101825A>C (TTN)	XP_024308863.1:p.Glu33942Ala
XM_024453096.1:c.101258A>C (TTN)	XP_024308864.1:p.Glu33753Ala
XM_024453097.1:c.98600A>C (TTN)	XP_024308865.1:p.Glu32867Ala
XM_024453098.1:c.98519A>C (TTN)	XP_024308866.1:p.Glu32840Ala
XM_024453099.1:c.80282A>C (TTN)	XP_024308867.1:p.Glu26761Ala
XM_024453100.1:c.70136A>C (TTN)	XP_024308868.1:p.Glu23379Ala