Canonical Allele Identifier: CA349501138

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1699237609
• MyVariant Identifiers: chr2:g.179415784A>G (hg19) ; chr2:g.178551057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551057A>G , CM000664.2:g.178551057A>G	GRCh38
NC_000002.11:g.179415784A>G , CM000664.1:g.179415784A>G	GRCh37
NC_000002.10:g.179124030A>G	NCBI36
NG_011618.3:g.284746T>C , LRG_391:g.284746T>C
NG_051363.1:g.33231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83770T>C (TTN)	ENSP00000343764.6:p.Tyr27924His
ENST00000342175.11:c.64855T>C (TTN)	ENSP00000340554.6:p.Tyr21619His
ENST00000359218.10:c.64654T>C (TTN)	ENSP00000352154.5:p.Tyr21552His
ENST00000342175.10:c.64855T>C (TTN)	ENSP00000340554.6:p.Tyr21619His
ENST00000342992.10:c.83770T>C (TTN)	ENSP00000343764.6:p.Tyr27924His
ENST00000359218.9:c.64654T>C (TTN)	ENSP00000352154.5:p.Tyr21552His
ENST00000460472.6:c.64279T>C (TTN)	ENSP00000434586.1:p.Tyr21427His
ENST00000589042.5:c.91474T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr30492His
ENST00000591111.5:c.86551T>C (TTN)	ENSP00000465570.1:p.Tyr28851His
ENST00000615779.4:c.86551T>C (TTN)	ENSP00000483597.1:p.Tyr28851His
NM_001256850.1:c.86551T>C (TTN)	NP_001243779.1:p.Tyr28851His
NM_001267550.2:c.91474T>C (TTN) MANE Select	NP_001254479.2:p.Tyr30492His
NM_003319.4:c.64279T>C (TTN)	NP_003310.4:p.Tyr21427His
NM_133378.4:c.83770T>C (TTN)	NP_596869.4:p.Tyr27924His
NM_133432.3:c.64654T>C (TTN)	NP_597676.3:p.Tyr21552His
NM_133437.4:c.64855T>C (TTN)	NP_597681.4:p.Tyr21619His
NR_038271.1:n.447-20243A>G (TTN-AS1)
NR_038272.1:n.2043+8696A>G (TTN-AS1)
XM_011511729.1:c.90571T>C (TTN)	XP_011510031.1:p.Tyr30191His
XM_011511730.1:c.64465T>C (TTN)	XP_011510032.1:p.Tyr21489His
XM_011511731.1:c.64324T>C (TTN)	XP_011510033.1:p.Tyr21442His
XM_017004819.1:c.90367T>C (TTN)	XP_016860308.1:p.Tyr30123His
XM_017004820.1:c.85765T>C (TTN)	XP_016860309.1:p.Tyr28589His
XM_017004821.1:c.85762T>C (TTN)	XP_016860310.1:p.Tyr28588His
XM_017004822.1:c.82804T>C (TTN)	XP_016860311.1:p.Tyr27602His
XM_017004823.1:c.64420T>C (TTN)	XP_016860312.1:p.Tyr21474His
XM_024453094.1:c.85915T>C (TTN)	XP_024308862.1:p.Tyr28639His
XM_024453095.1:c.85912T>C (TTN)	XP_024308863.1:p.Tyr28638His
XM_024453096.1:c.85345T>C (TTN)	XP_024308864.1:p.Tyr28449His
XM_024453097.1:c.82687T>C (TTN)	XP_024308865.1:p.Tyr27563His
XM_024453098.1:c.82606T>C (TTN)	XP_024308866.1:p.Tyr27536His
XM_024453099.1:c.64369T>C (TTN)	XP_024308867.1:p.Tyr21457His
XM_024453100.1:c.54223T>C (TTN)	XP_024308868.1:p.Tyr18075His