Canonical Allele Identifier: CA349405393

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1463137
• ClinVar RCV Id: RCV001960902
• dbSNP Id: rs1688381864
• MyVariant Identifiers: chr2:g.179394800C>T (hg19) ; chr2:g.178530073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530073C>T , CM000664.2:g.178530073C>T	GRCh38
NC_000002.11:g.179394800C>T , CM000664.1:g.179394800C>T	GRCh37
NC_000002.10:g.179103046C>T	NCBI36
NG_011618.3:g.305730G>A , LRG_391:g.305730G>A
NG_051363.1:g.12247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98714G>A (TTN)	ENSP00000343764.6:p.Gly32905Glu
ENST00000342175.11:c.79799G>A (TTN)	ENSP00000340554.6:p.Gly26600Glu
ENST00000359218.10:c.79598G>A (TTN)	ENSP00000352154.5:p.Gly26533Glu
ENST00000342175.10:c.79799G>A (TTN)	ENSP00000340554.6:p.Gly26600Glu
ENST00000342992.10:c.98714G>A (TTN)	ENSP00000343764.6:p.Gly32905Glu
ENST00000359218.9:c.79598G>A (TTN)	ENSP00000352154.5:p.Gly26533Glu
ENST00000460472.6:c.79223G>A (TTN)	ENSP00000434586.1:p.Gly26408Glu
ENST00000589042.5:c.106418G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35473Glu
ENST00000591111.5:c.101495G>A (TTN)	ENSP00000465570.1:p.Gly33832Glu
ENST00000615779.4:c.101495G>A (TTN)	ENSP00000483597.1:p.Gly33832Glu
NM_001256850.1:c.101495G>A (TTN)	NP_001243779.1:p.Gly33832Glu
NM_001267550.2:c.106418G>A (TTN) MANE Select	NP_001254479.2:p.Gly35473Glu
NM_003319.4:c.79223G>A (TTN)	NP_003310.4:p.Gly26408Glu
NM_133378.4:c.98714G>A (TTN)	NP_596869.4:p.Gly32905Glu
NM_133432.3:c.79598G>A (TTN)	NP_597676.3:p.Gly26533Glu
NM_133437.4:c.79799G>A (TTN)	NP_597681.4:p.Gly26600Glu
NR_038271.1:n.446+6437C>T (TTN-AS1)
NR_038272.1:n.220-5659C>T (TTN-AS1)
XM_011511729.1:c.105515G>A (TTN)	XP_011510031.1:p.Gly35172Glu
XM_011511730.1:c.79409G>A (TTN)	XP_011510032.1:p.Gly26470Glu
XM_011511731.1:c.79268G>A (TTN)	XP_011510033.1:p.Gly26423Glu
XM_017004819.1:c.105311G>A (TTN)	XP_016860308.1:p.Gly35104Glu
XM_017004820.1:c.100709G>A (TTN)	XP_016860309.1:p.Gly33570Glu
XM_017004821.1:c.100706G>A (TTN)	XP_016860310.1:p.Gly33569Glu
XM_017004822.1:c.97748G>A (TTN)	XP_016860311.1:p.Gly32583Glu
XM_017004823.1:c.79364G>A (TTN)	XP_016860312.1:p.Gly26455Glu
XM_024453094.1:c.100859G>A (TTN)	XP_024308862.1:p.Gly33620Glu
XM_024453095.1:c.100856G>A (TTN)	XP_024308863.1:p.Gly33619Glu
XM_024453096.1:c.100289G>A (TTN)	XP_024308864.1:p.Gly33430Glu
XM_024453097.1:c.97631G>A (TTN)	XP_024308865.1:p.Gly32544Glu
XM_024453098.1:c.97550G>A (TTN)	XP_024308866.1:p.Gly32517Glu
XM_024453099.1:c.79313G>A (TTN)	XP_024308867.1:p.Gly26438Glu
XM_024453100.1:c.69167G>A (TTN)	XP_024308868.1:p.Gly23056Glu