Canonical Allele Identifier: CA349398672

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391863T>A (hg19) ; chr2:g.178527136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527136T>A , CM000664.2:g.178527136T>A	GRCh38
NC_000002.11:g.179391863T>A , CM000664.1:g.179391863T>A	GRCh37
NC_000002.10:g.179100109T>A	NCBI36
NG_011618.3:g.308667A>T , LRG_391:g.308667A>T
NG_051363.1:g.9310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100148A>T (TTN)	ENSP00000343764.6:p.Asp33383Val
ENST00000342175.11:c.81233A>T (TTN)	ENSP00000340554.6:p.Asp27078Val
ENST00000359218.10:c.81032A>T (TTN)	ENSP00000352154.5:p.Asp27011Val
ENST00000342175.10:c.81233A>T (TTN)	ENSP00000340554.6:p.Asp27078Val
ENST00000342992.10:c.100148A>T (TTN)	ENSP00000343764.6:p.Asp33383Val
ENST00000359218.9:c.81032A>T (TTN)	ENSP00000352154.5:p.Asp27011Val
ENST00000460472.6:c.80657A>T (TTN)	ENSP00000434586.1:p.Asp26886Val
ENST00000589042.5:c.107852A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp35951Val
ENST00000591111.5:c.102929A>T (TTN)	ENSP00000465570.1:p.Asp34310Val
ENST00000615779.4:c.102929A>T (TTN)	ENSP00000483597.1:p.Asp34310Val
NM_001256850.1:c.102929A>T (TTN)	NP_001243779.1:p.Asp34310Val
NM_001267550.2:c.107852A>T (TTN) MANE Select	NP_001254479.2:p.Asp35951Val
NM_003319.4:c.80657A>T (TTN)	NP_003310.4:p.Asp26886Val
NM_133378.4:c.100148A>T (TTN)	NP_596869.4:p.Asp33383Val
NM_133432.3:c.81032A>T (TTN)	NP_597676.3:p.Asp27011Val
NM_133437.4:c.81233A>T (TTN)	NP_597681.4:p.Asp27078Val
NR_038271.1:n.446+3500T>A (TTN-AS1)
NR_038272.1:n.219+3500T>A (TTN-AS1)
XM_011511729.1:c.106949A>T (TTN)	XP_011510031.1:p.Asp35650Val
XM_011511730.1:c.80843A>T (TTN)	XP_011510032.1:p.Asp26948Val
XM_011511731.1:c.80702A>T (TTN)	XP_011510033.1:p.Asp26901Val
XM_017004819.1:c.106745A>T (TTN)	XP_016860308.1:p.Asp35582Val
XM_017004820.1:c.102143A>T (TTN)	XP_016860309.1:p.Asp34048Val
XM_017004821.1:c.102140A>T (TTN)	XP_016860310.1:p.Asp34047Val
XM_017004822.1:c.99182A>T (TTN)	XP_016860311.1:p.Asp33061Val
XM_017004823.1:c.80798A>T (TTN)	XP_016860312.1:p.Asp26933Val
XM_024453094.1:c.102293A>T (TTN)	XP_024308862.1:p.Asp34098Val
XM_024453095.1:c.102290A>T (TTN)	XP_024308863.1:p.Asp34097Val
XM_024453096.1:c.101723A>T (TTN)	XP_024308864.1:p.Asp33908Val
XM_024453097.1:c.99065A>T (TTN)	XP_024308865.1:p.Asp33022Val
XM_024453098.1:c.98984A>T (TTN)	XP_024308866.1:p.Asp32995Val
XM_024453099.1:c.80747A>T (TTN)	XP_024308867.1:p.Asp26916Val
XM_024453100.1:c.70601A>T (TTN)	XP_024308868.1:p.Asp23534Val