Canonical Allele Identifier: CA349585612

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429988A>T (hg19) ; chr2:g.178565261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565261A>T , CM000664.2:g.178565261A>T	GRCh38
NC_000002.11:g.179429988A>T , CM000664.1:g.179429988A>T	GRCh37
NC_000002.10:g.179138234A>T	NCBI36
NG_011618.3:g.270542T>A , LRG_391:g.270542T>A
NG_051363.1:g.47435A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73167T>A (TTN)	ENSP00000343764.6:p.Ser24389Arg
ENST00000342175.11:c.54252T>A (TTN)	ENSP00000340554.6:p.Ser18084Arg
ENST00000359218.10:c.54051T>A (TTN)	ENSP00000352154.5:p.Ser18017Arg
ENST00000342175.10:c.54252T>A (TTN)	ENSP00000340554.6:p.Ser18084Arg
ENST00000342992.10:c.73167T>A (TTN)	ENSP00000343764.6:p.Ser24389Arg
ENST00000359218.9:c.54051T>A (TTN)	ENSP00000352154.5:p.Ser18017Arg
ENST00000460472.6:c.53676T>A (TTN)	ENSP00000434586.1:p.Ser17892Arg
ENST00000589042.5:c.80871T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser26957Arg
ENST00000591111.5:c.75948T>A (TTN)	ENSP00000465570.1:p.Ser25316Arg
ENST00000615779.4:c.75948T>A (TTN)	ENSP00000483597.1:p.Ser25316Arg
NM_001256850.1:c.75948T>A (TTN)	NP_001243779.1:p.Ser25316Arg
NM_001267550.2:c.80871T>A (TTN) MANE Select	NP_001254479.2:p.Ser26957Arg
NM_003319.4:c.53676T>A (TTN)	NP_003310.4:p.Ser17892Arg
NM_133378.4:c.73167T>A (TTN)	NP_596869.4:p.Ser24389Arg
NM_133432.3:c.54051T>A (TTN)	NP_597676.3:p.Ser18017Arg
NM_133437.4:c.54252T>A (TTN)	NP_597681.4:p.Ser18084Arg
NR_038271.1:n.447-6039A>T (TTN-AS1)
NR_038272.1:n.2044-17311A>T (TTN-AS1)
XM_011511729.1:c.79968T>A (TTN)	XP_011510031.1:p.Ser26656Arg
XM_011511730.1:c.53862T>A (TTN)	XP_011510032.1:p.Ser17954Arg
XM_011511731.1:c.53721T>A (TTN)	XP_011510033.1:p.Ser17907Arg
XM_017004819.1:c.79764T>A (TTN)	XP_016860308.1:p.Ser26588Arg
XM_017004820.1:c.75162T>A (TTN)	XP_016860309.1:p.Ser25054Arg
XM_017004821.1:c.75159T>A (TTN)	XP_016860310.1:p.Ser25053Arg
XM_017004822.1:c.72201T>A (TTN)	XP_016860311.1:p.Ser24067Arg
XM_017004823.1:c.53817T>A (TTN)	XP_016860312.1:p.Ser17939Arg
XM_024453094.1:c.75312T>A (TTN)	XP_024308862.1:p.Ser25104Arg
XM_024453095.1:c.75309T>A (TTN)	XP_024308863.1:p.Ser25103Arg
XM_024453096.1:c.74742T>A (TTN)	XP_024308864.1:p.Ser24914Arg
XM_024453097.1:c.72084T>A (TTN)	XP_024308865.1:p.Ser24028Arg
XM_024453098.1:c.72003T>A (TTN)	XP_024308866.1:p.Ser24001Arg
XM_024453099.1:c.53766T>A (TTN)	XP_024308867.1:p.Ser17922Arg
XM_024453100.1:c.43620T>A (TTN)	XP_024308868.1:p.Ser14540Arg