Canonical Allele Identifier: CA349407027

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1688634986
• MyVariant Identifiers: chr2:g.179395239G>A (hg19) ; chr2:g.178530512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530512G>A , CM000664.2:g.178530512G>A	GRCh38
NC_000002.11:g.179395239G>A , CM000664.1:g.179395239G>A	GRCh37
NC_000002.10:g.179103485G>A	NCBI36
NG_011618.3:g.305291C>T , LRG_391:g.305291C>T
NG_051363.1:g.12686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98399C>T (TTN)	ENSP00000343764.6:p.Ser32800Phe
ENST00000342175.11:c.79484C>T (TTN)	ENSP00000340554.6:p.Ser26495Phe
ENST00000359218.10:c.79283C>T (TTN)	ENSP00000352154.5:p.Ser26428Phe
ENST00000342175.10:c.79484C>T (TTN)	ENSP00000340554.6:p.Ser26495Phe
ENST00000342992.10:c.98399C>T (TTN)	ENSP00000343764.6:p.Ser32800Phe
ENST00000359218.9:c.79283C>T (TTN)	ENSP00000352154.5:p.Ser26428Phe
ENST00000460472.6:c.78908C>T (TTN)	ENSP00000434586.1:p.Ser26303Phe
ENST00000589042.5:c.106103C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35368Phe
ENST00000591111.5:c.101180C>T (TTN)	ENSP00000465570.1:p.Ser33727Phe
ENST00000615779.4:c.101180C>T (TTN)	ENSP00000483597.1:p.Ser33727Phe
NM_001256850.1:c.101180C>T (TTN)	NP_001243779.1:p.Ser33727Phe
NM_001267550.2:c.106103C>T (TTN) MANE Select	NP_001254479.2:p.Ser35368Phe
NM_003319.4:c.78908C>T (TTN)	NP_003310.4:p.Ser26303Phe
NM_133378.4:c.98399C>T (TTN)	NP_596869.4:p.Ser32800Phe
NM_133432.3:c.79283C>T (TTN)	NP_597676.3:p.Ser26428Phe
NM_133437.4:c.79484C>T (TTN)	NP_597681.4:p.Ser26495Phe
NR_038271.1:n.446+6876G>A (TTN-AS1)
NR_038272.1:n.220-5220G>A (TTN-AS1)
XM_011511729.1:c.105200C>T (TTN)	XP_011510031.1:p.Ser35067Phe
XM_011511730.1:c.79094C>T (TTN)	XP_011510032.1:p.Ser26365Phe
XM_011511731.1:c.78953C>T (TTN)	XP_011510033.1:p.Ser26318Phe
XM_017004819.1:c.104996C>T (TTN)	XP_016860308.1:p.Ser34999Phe
XM_017004820.1:c.100394C>T (TTN)	XP_016860309.1:p.Ser33465Phe
XM_017004821.1:c.100391C>T (TTN)	XP_016860310.1:p.Ser33464Phe
XM_017004822.1:c.97433C>T (TTN)	XP_016860311.1:p.Ser32478Phe
XM_017004823.1:c.79049C>T (TTN)	XP_016860312.1:p.Ser26350Phe
XM_024453094.1:c.100544C>T (TTN)	XP_024308862.1:p.Ser33515Phe
XM_024453095.1:c.100541C>T (TTN)	XP_024308863.1:p.Ser33514Phe
XM_024453096.1:c.99974C>T (TTN)	XP_024308864.1:p.Ser33325Phe
XM_024453097.1:c.97316C>T (TTN)	XP_024308865.1:p.Ser32439Phe
XM_024453098.1:c.97235C>T (TTN)	XP_024308866.1:p.Ser32412Phe
XM_024453099.1:c.78998C>T (TTN)	XP_024308867.1:p.Ser26333Phe
XM_024453100.1:c.68852C>T (TTN)	XP_024308868.1:p.Ser22951Phe