Canonical Allele Identifier: CA349411951

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1689468050
• MyVariant Identifiers: chr2:g.179397000T>C (hg19) ; chr2:g.178532273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532273T>C , CM000664.2:g.178532273T>C	GRCh38
NC_000002.11:g.179397000T>C , CM000664.1:g.179397000T>C	GRCh37
NC_000002.10:g.179105246T>C	NCBI36
NG_011618.3:g.303530A>G , LRG_391:g.303530A>G
NG_051363.1:g.14447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96638A>G (TTN)	ENSP00000343764.6:p.Gln32213Arg
ENST00000342175.11:c.77723A>G (TTN)	ENSP00000340554.6:p.Gln25908Arg
ENST00000359218.10:c.77522A>G (TTN)	ENSP00000352154.5:p.Gln25841Arg
ENST00000342175.10:c.77723A>G (TTN)	ENSP00000340554.6:p.Gln25908Arg
ENST00000342992.10:c.96638A>G (TTN)	ENSP00000343764.6:p.Gln32213Arg
ENST00000359218.9:c.77522A>G (TTN)	ENSP00000352154.5:p.Gln25841Arg
ENST00000460472.6:c.77147A>G (TTN)	ENSP00000434586.1:p.Gln25716Arg
ENST00000589042.5:c.104342A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln34781Arg
ENST00000591111.5:c.99419A>G (TTN)	ENSP00000465570.1:p.Gln33140Arg
ENST00000615779.4:c.99419A>G (TTN)	ENSP00000483597.1:p.Gln33140Arg
NM_001256850.1:c.99419A>G (TTN)	NP_001243779.1:p.Gln33140Arg
NM_001267550.2:c.104342A>G (TTN) MANE Select	NP_001254479.2:p.Gln34781Arg
NM_003319.4:c.77147A>G (TTN)	NP_003310.4:p.Gln25716Arg
NM_133378.4:c.96638A>G (TTN)	NP_596869.4:p.Gln32213Arg
NM_133432.3:c.77522A>G (TTN)	NP_597676.3:p.Gln25841Arg
NM_133437.4:c.77723A>G (TTN)	NP_597681.4:p.Gln25908Arg
NR_038271.1:n.446+8637T>C (TTN-AS1)
NR_038272.1:n.220-3459T>C (TTN-AS1)
XM_011511729.1:c.103439A>G (TTN)	XP_011510031.1:p.Gln34480Arg
XM_011511730.1:c.77333A>G (TTN)	XP_011510032.1:p.Gln25778Arg
XM_011511731.1:c.77192A>G (TTN)	XP_011510033.1:p.Gln25731Arg
XM_017004819.1:c.103235A>G (TTN)	XP_016860308.1:p.Gln34412Arg
XM_017004820.1:c.98633A>G (TTN)	XP_016860309.1:p.Gln32878Arg
XM_017004821.1:c.98630A>G (TTN)	XP_016860310.1:p.Gln32877Arg
XM_017004822.1:c.95672A>G (TTN)	XP_016860311.1:p.Gln31891Arg
XM_017004823.1:c.77288A>G (TTN)	XP_016860312.1:p.Gln25763Arg
XM_024453094.1:c.98783A>G (TTN)	XP_024308862.1:p.Gln32928Arg
XM_024453095.1:c.98780A>G (TTN)	XP_024308863.1:p.Gln32927Arg
XM_024453096.1:c.98213A>G (TTN)	XP_024308864.1:p.Gln32738Arg
XM_024453097.1:c.95555A>G (TTN)	XP_024308865.1:p.Gln31852Arg
XM_024453098.1:c.95474A>G (TTN)	XP_024308866.1:p.Gln31825Arg
XM_024453099.1:c.77237A>G (TTN)	XP_024308867.1:p.Gln25746Arg
XM_024453100.1:c.67091A>G (TTN)	XP_024308868.1:p.Gln22364Arg