Canonical Allele Identifier: CA349535659

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422539C>A (hg19) ; chr2:g.178557812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557812C>A , CM000664.2:g.178557812C>A	GRCh38
NC_000002.11:g.179422539C>A , CM000664.1:g.179422539C>A	GRCh37
NC_000002.10:g.179130785C>A	NCBI36
NG_011618.3:g.277991G>T , LRG_391:g.277991G>T
NG_051363.1:g.39986C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79838G>T (TTN)	ENSP00000343764.6:p.Ser26613Ile
ENST00000342175.11:c.60923G>T (TTN)	ENSP00000340554.6:p.Ser20308Ile
ENST00000359218.10:c.60722G>T (TTN)	ENSP00000352154.5:p.Ser20241Ile
ENST00000342175.10:c.60923G>T (TTN)	ENSP00000340554.6:p.Ser20308Ile
ENST00000342992.10:c.79838G>T (TTN)	ENSP00000343764.6:p.Ser26613Ile
ENST00000359218.9:c.60722G>T (TTN)	ENSP00000352154.5:p.Ser20241Ile
ENST00000460472.6:c.60347G>T (TTN)	ENSP00000434586.1:p.Ser20116Ile
ENST00000589042.5:c.87542G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser29181Ile
ENST00000591111.5:c.82619G>T (TTN)	ENSP00000465570.1:p.Ser27540Ile
ENST00000615779.4:c.82619G>T (TTN)	ENSP00000483597.1:p.Ser27540Ile
NM_001256850.1:c.82619G>T (TTN)	NP_001243779.1:p.Ser27540Ile
NM_001267550.2:c.87542G>T (TTN) MANE Select	NP_001254479.2:p.Ser29181Ile
NM_003319.4:c.60347G>T (TTN)	NP_003310.4:p.Ser20116Ile
NM_133378.4:c.79838G>T (TTN)	NP_596869.4:p.Ser26613Ile
NM_133432.3:c.60722G>T (TTN)	NP_597676.3:p.Ser20241Ile
NM_133437.4:c.60923G>T (TTN)	NP_597681.4:p.Ser20308Ile
NR_038271.1:n.447-13488C>A (TTN-AS1)
NR_038272.1:n.2043+15451C>A (TTN-AS1)
XM_011511729.1:c.86639G>T (TTN)	XP_011510031.1:p.Ser28880Ile
XM_011511730.1:c.60533G>T (TTN)	XP_011510032.1:p.Ser20178Ile
XM_011511731.1:c.60392G>T (TTN)	XP_011510033.1:p.Ser20131Ile
XM_017004819.1:c.86435G>T (TTN)	XP_016860308.1:p.Ser28812Ile
XM_017004820.1:c.81833G>T (TTN)	XP_016860309.1:p.Ser27278Ile
XM_017004821.1:c.81830G>T (TTN)	XP_016860310.1:p.Ser27277Ile
XM_017004822.1:c.78872G>T (TTN)	XP_016860311.1:p.Ser26291Ile
XM_017004823.1:c.60488G>T (TTN)	XP_016860312.1:p.Ser20163Ile
XM_024453094.1:c.81983G>T (TTN)	XP_024308862.1:p.Ser27328Ile
XM_024453095.1:c.81980G>T (TTN)	XP_024308863.1:p.Ser27327Ile
XM_024453096.1:c.81413G>T (TTN)	XP_024308864.1:p.Ser27138Ile
XM_024453097.1:c.78755G>T (TTN)	XP_024308865.1:p.Ser26252Ile
XM_024453098.1:c.78674G>T (TTN)	XP_024308866.1:p.Ser26225Ile
XM_024453099.1:c.60437G>T (TTN)	XP_024308867.1:p.Ser20146Ile
XM_024453100.1:c.50291G>T (TTN)	XP_024308868.1:p.Ser16764Ile