Canonical Allele Identifier: CA430103716

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1613840
• ClinVar RCV Id: RCV002160464 ; RCV003161546
• dbSNP Id: rs542171381
• gnomAD v4: 2-178551064-C-T
• MyVariant Identifiers: chr2:g.179415791C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551064C>T , CM000664.2:g.178551064C>T	GRCh38
NC_000002.11:g.179415791C>T , CM000664.1:g.179415791C>T	GRCh37
NC_000002.10:g.179124037C>T	NCBI36
NG_011618.3:g.284739G>A , LRG_391:g.284739G>A
NG_051363.1:g.33238C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83763G>A (TTN)	ENSP00000343764.6:p.Gly27921=
ENST00000342175.11:c.64848G>A (TTN)	ENSP00000340554.6:p.Gly21616=
ENST00000359218.10:c.64647G>A (TTN)	ENSP00000352154.5:p.Gly21549=
ENST00000342175.10:c.64848G>A (TTN)	ENSP00000340554.6:p.Gly21616=
ENST00000342992.10:c.83763G>A (TTN)	ENSP00000343764.6:p.Gly27921=
ENST00000359218.9:c.64647G>A (TTN)	ENSP00000352154.5:p.Gly21549=
ENST00000460472.6:c.64272G>A (TTN)	ENSP00000434586.1:p.Gly21424=
ENST00000589042.5:c.91467G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30489=
ENST00000591111.5:c.86544G>A (TTN)	ENSP00000465570.1:p.Gly28848=
ENST00000615779.4:c.86544G>A (TTN)	ENSP00000483597.1:p.Gly28848=
NM_001256850.1:c.86544G>A (TTN)	NP_001243779.1:p.Gly28848=
NM_001267550.2:c.91467G>A (TTN) MANE Select	NP_001254479.2:p.Gly30489=
NM_003319.4:c.64272G>A (TTN)	NP_003310.4:p.Gly21424=
NM_133378.4:c.83763G>A (TTN)	NP_596869.4:p.Gly27921=
NM_133432.3:c.64647G>A (TTN)	NP_597676.3:p.Gly21549=
NM_133437.4:c.64848G>A (TTN)	NP_597681.4:p.Gly21616=
NR_038271.1:n.447-20236C>T (TTN-AS1)
NR_038272.1:n.2043+8703C>T (TTN-AS1)
XM_011511729.1:c.90564G>A (TTN)	XP_011510031.1:p.Gly30188=
XM_011511730.1:c.64458G>A (TTN)	XP_011510032.1:p.Gly21486=
XM_011511731.1:c.64317G>A (TTN)	XP_011510033.1:p.Gly21439=
XM_017004819.1:c.90360G>A (TTN)	XP_016860308.1:p.Gly30120=
XM_017004820.1:c.85758G>A (TTN)	XP_016860309.1:p.Gly28586=
XM_017004821.1:c.85755G>A (TTN)	XP_016860310.1:p.Gly28585=
XM_017004822.1:c.82797G>A (TTN)	XP_016860311.1:p.Gly27599=
XM_017004823.1:c.64413G>A (TTN)	XP_016860312.1:p.Gly21471=
XM_024453094.1:c.85908G>A (TTN)	XP_024308862.1:p.Gly28636=
XM_024453095.1:c.85905G>A (TTN)	XP_024308863.1:p.Gly28635=
XM_024453096.1:c.85338G>A (TTN)	XP_024308864.1:p.Gly28446=
XM_024453097.1:c.82680G>A (TTN)	XP_024308865.1:p.Gly27560=
XM_024453098.1:c.82599G>A (TTN)	XP_024308866.1:p.Gly27533=
XM_024453099.1:c.64362G>A (TTN)	XP_024308867.1:p.Gly21454=
XM_024453100.1:c.54216G>A (TTN)	XP_024308868.1:p.Gly18072=