Canonical Allele Identifier: CA349398541

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391836T>G (hg19) ; chr2:g.178527109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527109T>G , CM000664.2:g.178527109T>G	GRCh38
NC_000002.11:g.179391836T>G , CM000664.1:g.179391836T>G	GRCh37
NC_000002.10:g.179100082T>G	NCBI36
NG_011618.3:g.308694A>C , LRG_391:g.308694A>C
NG_051363.1:g.9283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100175A>C (TTN)	ENSP00000343764.6:p.Asp33392Ala
ENST00000342175.11:c.81260A>C (TTN)	ENSP00000340554.6:p.Asp27087Ala
ENST00000359218.10:c.81059A>C (TTN)	ENSP00000352154.5:p.Asp27020Ala
ENST00000342175.10:c.81260A>C (TTN)	ENSP00000340554.6:p.Asp27087Ala
ENST00000342992.10:c.100175A>C (TTN)	ENSP00000343764.6:p.Asp33392Ala
ENST00000359218.9:c.81059A>C (TTN)	ENSP00000352154.5:p.Asp27020Ala
ENST00000460472.6:c.80684A>C (TTN)	ENSP00000434586.1:p.Asp26895Ala
ENST00000589042.5:c.107879A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35960Ala
ENST00000591111.5:c.102956A>C (TTN)	ENSP00000465570.1:p.Asp34319Ala
ENST00000615779.4:c.102956A>C (TTN)	ENSP00000483597.1:p.Asp34319Ala
NM_001256850.1:c.102956A>C (TTN)	NP_001243779.1:p.Asp34319Ala
NM_001267550.2:c.107879A>C (TTN) MANE Select	NP_001254479.2:p.Asp35960Ala
NM_003319.4:c.80684A>C (TTN)	NP_003310.4:p.Asp26895Ala
NM_133378.4:c.100175A>C (TTN)	NP_596869.4:p.Asp33392Ala
NM_133432.3:c.81059A>C (TTN)	NP_597676.3:p.Asp27020Ala
NM_133437.4:c.81260A>C (TTN)	NP_597681.4:p.Asp27087Ala
NR_038271.1:n.446+3473T>G (TTN-AS1)
NR_038272.1:n.219+3473T>G (TTN-AS1)
XM_011511729.1:c.106976A>C (TTN)	XP_011510031.1:p.Asp35659Ala
XM_011511730.1:c.80870A>C (TTN)	XP_011510032.1:p.Asp26957Ala
XM_011511731.1:c.80729A>C (TTN)	XP_011510033.1:p.Asp26910Ala
XM_017004819.1:c.106772A>C (TTN)	XP_016860308.1:p.Asp35591Ala
XM_017004820.1:c.102170A>C (TTN)	XP_016860309.1:p.Asp34057Ala
XM_017004821.1:c.102167A>C (TTN)	XP_016860310.1:p.Asp34056Ala
XM_017004822.1:c.99209A>C (TTN)	XP_016860311.1:p.Asp33070Ala
XM_017004823.1:c.80825A>C (TTN)	XP_016860312.1:p.Asp26942Ala
XM_024453094.1:c.102320A>C (TTN)	XP_024308862.1:p.Asp34107Ala
XM_024453095.1:c.102317A>C (TTN)	XP_024308863.1:p.Asp34106Ala
XM_024453096.1:c.101750A>C (TTN)	XP_024308864.1:p.Asp33917Ala
XM_024453097.1:c.99092A>C (TTN)	XP_024308865.1:p.Asp33031Ala
XM_024453098.1:c.99011A>C (TTN)	XP_024308866.1:p.Asp33004Ala
XM_024453099.1:c.80774A>C (TTN)	XP_024308867.1:p.Asp26925Ala
XM_024453100.1:c.70628A>C (TTN)	XP_024308868.1:p.Asp23543Ala