Canonical Allele Identifier: CA1987104

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 287662
• ClinVar RCV Id: RCV000301018 ; RCV001448280
• dbSNP Id: rs755850773
• ExAC: 2:179411622 G / T
• MyVariant Identifiers: chr2:g.179411622G>T (hg19) ; chr2:g.178546895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546895G>T , CM000664.2:g.178546895G>T	GRCh38
NC_000002.11:g.179411622G>T , CM000664.1:g.179411622G>T	GRCh37
NC_000002.10:g.179119868G>T	NCBI36
NG_011618.3:g.288908C>A , LRG_391:g.288908C>A
NG_051363.1:g.29069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86829C>A (TTN)	ENSP00000343764.6:p.Gly28943=
ENST00000342175.11:c.67914C>A (TTN)	ENSP00000340554.6:p.Gly22638=
ENST00000359218.10:c.67713C>A (TTN)	ENSP00000352154.5:p.Gly22571=
ENST00000342175.10:c.67914C>A (TTN)	ENSP00000340554.6:p.Gly22638=
ENST00000342992.10:c.86829C>A (TTN)	ENSP00000343764.6:p.Gly28943=
ENST00000359218.9:c.67713C>A (TTN)	ENSP00000352154.5:p.Gly22571=
ENST00000460472.6:c.67338C>A (TTN)	ENSP00000434586.1:p.Gly22446=
ENST00000589042.5:c.94533C>A (TTN) MANE Select	ENSP00000467141.1:p.Gly31511=
ENST00000591111.5:c.89610C>A (TTN)	ENSP00000465570.1:p.Gly29870=
ENST00000615779.4:c.89610C>A (TTN)	ENSP00000483597.1:p.Gly29870=
NM_001256850.1:c.89610C>A (TTN)	NP_001243779.1:p.Gly29870=
NM_001267550.2:c.94533C>A (TTN) MANE Select	NP_001254479.2:p.Gly31511=
NM_003319.4:c.67338C>A (TTN)	NP_003310.4:p.Gly22446=
NM_133378.4:c.86829C>A (TTN)	NP_596869.4:p.Gly28943=
NM_133432.3:c.67713C>A (TTN)	NP_597676.3:p.Gly22571=
NM_133437.4:c.67914C>A (TTN)	NP_597681.4:p.Gly22638=
NR_038271.1:n.446+23259G>T (TTN-AS1)
NR_038272.1:n.2043+4534G>T (TTN-AS1)
XM_011511729.1:c.93630C>A (TTN)	XP_011510031.1:p.Gly31210=
XM_011511730.1:c.67524C>A (TTN)	XP_011510032.1:p.Gly22508=
XM_011511731.1:c.67383C>A (TTN)	XP_011510033.1:p.Gly22461=
XM_017004819.1:c.93426C>A (TTN)	XP_016860308.1:p.Gly31142=
XM_017004820.1:c.88824C>A (TTN)	XP_016860309.1:p.Gly29608=
XM_017004821.1:c.88821C>A (TTN)	XP_016860310.1:p.Gly29607=
XM_017004822.1:c.85863C>A (TTN)	XP_016860311.1:p.Gly28621=
XM_017004823.1:c.67479C>A (TTN)	XP_016860312.1:p.Gly22493=
XM_024453094.1:c.88974C>A (TTN)	XP_024308862.1:p.Gly29658=
XM_024453095.1:c.88971C>A (TTN)	XP_024308863.1:p.Gly29657=
XM_024453096.1:c.88404C>A (TTN)	XP_024308864.1:p.Gly29468=
XM_024453097.1:c.85746C>A (TTN)	XP_024308865.1:p.Gly28582=
XM_024453098.1:c.85665C>A (TTN)	XP_024308866.1:p.Gly28555=
XM_024453099.1:c.67428C>A (TTN)	XP_024308867.1:p.Gly22476=
XM_024453100.1:c.57282C>A (TTN)	XP_024308868.1:p.Gly19094=