Canonical Allele Identifier: CA349398645

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391857A>T (hg19) ; chr2:g.178527130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527130A>T , CM000664.2:g.178527130A>T	GRCh38
NC_000002.11:g.179391857A>T , CM000664.1:g.179391857A>T	GRCh37
NC_000002.10:g.179100103A>T	NCBI36
NG_011618.3:g.308673T>A , LRG_391:g.308673T>A
NG_051363.1:g.9304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100154T>A (TTN)	ENSP00000343764.6:p.Leu33385Gln
ENST00000342175.11:c.81239T>A (TTN)	ENSP00000340554.6:p.Leu27080Gln
ENST00000359218.10:c.81038T>A (TTN)	ENSP00000352154.5:p.Leu27013Gln
ENST00000342175.10:c.81239T>A (TTN)	ENSP00000340554.6:p.Leu27080Gln
ENST00000342992.10:c.100154T>A (TTN)	ENSP00000343764.6:p.Leu33385Gln
ENST00000359218.9:c.81038T>A (TTN)	ENSP00000352154.5:p.Leu27013Gln
ENST00000460472.6:c.80663T>A (TTN)	ENSP00000434586.1:p.Leu26888Gln
ENST00000589042.5:c.107858T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35953Gln
ENST00000591111.5:c.102935T>A (TTN)	ENSP00000465570.1:p.Leu34312Gln
ENST00000615779.4:c.102935T>A (TTN)	ENSP00000483597.1:p.Leu34312Gln
NM_001256850.1:c.102935T>A (TTN)	NP_001243779.1:p.Leu34312Gln
NM_001267550.2:c.107858T>A (TTN) MANE Select	NP_001254479.2:p.Leu35953Gln
NM_003319.4:c.80663T>A (TTN)	NP_003310.4:p.Leu26888Gln
NM_133378.4:c.100154T>A (TTN)	NP_596869.4:p.Leu33385Gln
NM_133432.3:c.81038T>A (TTN)	NP_597676.3:p.Leu27013Gln
NM_133437.4:c.81239T>A (TTN)	NP_597681.4:p.Leu27080Gln
NR_038271.1:n.446+3494A>T (TTN-AS1)
NR_038272.1:n.219+3494A>T (TTN-AS1)
XM_011511729.1:c.106955T>A (TTN)	XP_011510031.1:p.Leu35652Gln
XM_011511730.1:c.80849T>A (TTN)	XP_011510032.1:p.Leu26950Gln
XM_011511731.1:c.80708T>A (TTN)	XP_011510033.1:p.Leu26903Gln
XM_017004819.1:c.106751T>A (TTN)	XP_016860308.1:p.Leu35584Gln
XM_017004820.1:c.102149T>A (TTN)	XP_016860309.1:p.Leu34050Gln
XM_017004821.1:c.102146T>A (TTN)	XP_016860310.1:p.Leu34049Gln
XM_017004822.1:c.99188T>A (TTN)	XP_016860311.1:p.Leu33063Gln
XM_017004823.1:c.80804T>A (TTN)	XP_016860312.1:p.Leu26935Gln
XM_024453094.1:c.102299T>A (TTN)	XP_024308862.1:p.Leu34100Gln
XM_024453095.1:c.102296T>A (TTN)	XP_024308863.1:p.Leu34099Gln
XM_024453096.1:c.101729T>A (TTN)	XP_024308864.1:p.Leu33910Gln
XM_024453097.1:c.99071T>A (TTN)	XP_024308865.1:p.Leu33024Gln
XM_024453098.1:c.98990T>A (TTN)	XP_024308866.1:p.Leu32997Gln
XM_024453099.1:c.80753T>A (TTN)	XP_024308867.1:p.Leu26918Gln
XM_024453100.1:c.70607T>A (TTN)	XP_024308868.1:p.Leu23536Gln