Canonical Allele Identifier: CA349411950

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96638A>T (TTN)	ENSP00000343764.6:p.Gln32213Leu
ENST00000342175.11:c.77723A>T (TTN)	ENSP00000340554.6:p.Gln25908Leu
ENST00000359218.10:c.77522A>T (TTN)	ENSP00000352154.5:p.Gln25841Leu
ENST00000342175.10:c.77723A>T (TTN)	ENSP00000340554.6:p.Gln25908Leu
ENST00000342992.10:c.96638A>T (TTN)	ENSP00000343764.6:p.Gln32213Leu
ENST00000359218.9:c.77522A>T (TTN)	ENSP00000352154.5:p.Gln25841Leu
ENST00000460472.6:c.77147A>T (TTN)	ENSP00000434586.1:p.Gln25716Leu
ENST00000589042.5:c.104342A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln34781Leu
ENST00000591111.5:c.99419A>T (TTN)	ENSP00000465570.1:p.Gln33140Leu
ENST00000615779.4:c.99419A>T (TTN)	ENSP00000483597.1:p.Gln33140Leu
NM_001256850.1:c.99419A>T (TTN)	NP_001243779.1:p.Gln33140Leu
NM_001267550.2:c.104342A>T (TTN) MANE Select	NP_001254479.2:p.Gln34781Leu
NM_003319.4:c.77147A>T (TTN)	NP_003310.4:p.Gln25716Leu
NM_133378.4:c.96638A>T (TTN)	NP_596869.4:p.Gln32213Leu
NM_133432.3:c.77522A>T (TTN)	NP_597676.3:p.Gln25841Leu
NM_133437.4:c.77723A>T (TTN)	NP_597681.4:p.Gln25908Leu
NR_038271.1:n.446+8637T>A (TTN-AS1)
NR_038272.1:n.220-3459T>A (TTN-AS1)
XM_011511729.1:c.103439A>T (TTN)	XP_011510031.1:p.Gln34480Leu
XM_011511730.1:c.77333A>T (TTN)	XP_011510032.1:p.Gln25778Leu
XM_011511731.1:c.77192A>T (TTN)	XP_011510033.1:p.Gln25731Leu
XM_017004819.1:c.103235A>T (TTN)	XP_016860308.1:p.Gln34412Leu
XM_017004820.1:c.98633A>T (TTN)	XP_016860309.1:p.Gln32878Leu
XM_017004821.1:c.98630A>T (TTN)	XP_016860310.1:p.Gln32877Leu
XM_017004822.1:c.95672A>T (TTN)	XP_016860311.1:p.Gln31891Leu
XM_017004823.1:c.77288A>T (TTN)	XP_016860312.1:p.Gln25763Leu
XM_024453094.1:c.98783A>T (TTN)	XP_024308862.1:p.Gln32928Leu
XM_024453095.1:c.98780A>T (TTN)	XP_024308863.1:p.Gln32927Leu
XM_024453096.1:c.98213A>T (TTN)	XP_024308864.1:p.Gln32738Leu
XM_024453097.1:c.95555A>T (TTN)	XP_024308865.1:p.Gln31852Leu
XM_024453098.1:c.95474A>T (TTN)	XP_024308866.1:p.Gln31825Leu
XM_024453099.1:c.77237A>T (TTN)	XP_024308867.1:p.Gln25746Leu
XM_024453100.1:c.67091A>T (TTN)	XP_024308868.1:p.Gln22364Leu