Canonical Allele Identifier: CA349545174

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467057A>C (hg19) ; chr2:g.178602330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602330A>C , CM000664.2:g.178602330A>C	GRCh38
NC_000002.11:g.179467057A>C , CM000664.1:g.179467057A>C	GRCh37
NC_000002.10:g.179175302A>C	NCBI36
NG_011618.3:g.233473T>G , LRG_391:g.233473T>G
NG_051363.1:g.84504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47368T>G (TTN)	ENSP00000343764.6:p.Ser15790Ala
ENST00000342175.11:c.28453T>G (TTN)	ENSP00000340554.6:p.Ser9485Ala
ENST00000359218.10:c.28252T>G (TTN)	ENSP00000352154.5:p.Ser9418Ala
ENST00000342175.10:c.28453T>G (TTN)	ENSP00000340554.6:p.Ser9485Ala
ENST00000342992.10:c.47368T>G (TTN)	ENSP00000343764.6:p.Ser15790Ala
ENST00000359218.9:c.28252T>G (TTN)	ENSP00000352154.5:p.Ser9418Ala
ENST00000460472.6:c.27877T>G (TTN)	ENSP00000434586.1:p.Ser9293Ala
ENST00000589042.5:c.55072T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser18358Ala
ENST00000591111.5:c.50149T>G (TTN)	ENSP00000465570.1:p.Ser16717Ala
ENST00000615779.4:c.50149T>G (TTN)	ENSP00000483597.1:p.Ser16717Ala
NM_001256850.1:c.50149T>G (TTN)	NP_001243779.1:p.Ser16717Ala
NM_001267550.2:c.55072T>G (TTN) MANE Select	NP_001254479.2:p.Ser18358Ala
NM_003319.4:c.27877T>G (TTN)	NP_003310.4:p.Ser9293Ala
NM_133378.4:c.47368T>G (TTN)	NP_596869.4:p.Ser15790Ala
NM_133432.3:c.28252T>G (TTN)	NP_597676.3:p.Ser9418Ala
NM_133437.4:c.28453T>G (TTN)	NP_597681.4:p.Ser9485Ala
NR_038271.1:n.682+4649A>C (TTN-AS1)
NR_038272.1:n.3917+1663A>C (TTN-AS1)
XM_011511729.1:c.54169T>G (TTN)	XP_011510031.1:p.Ser18057Ala
XM_011511730.1:c.28063T>G (TTN)	XP_011510032.1:p.Ser9355Ala
XM_011511731.1:c.27922T>G (TTN)	XP_011510033.1:p.Ser9308Ala
XM_017004819.1:c.53965T>G (TTN)	XP_016860308.1:p.Ser17989Ala
XM_017004820.1:c.49363T>G (TTN)	XP_016860309.1:p.Ser16455Ala
XM_017004821.1:c.49360T>G (TTN)	XP_016860310.1:p.Ser16454Ala
XM_017004822.1:c.46402T>G (TTN)	XP_016860311.1:p.Ser15468Ala
XM_017004823.1:c.28018T>G (TTN)	XP_016860312.1:p.Ser9340Ala
XM_024453094.1:c.49513T>G (TTN)	XP_024308862.1:p.Ser16505Ala
XM_024453095.1:c.49510T>G (TTN)	XP_024308863.1:p.Ser16504Ala
XM_024453096.1:c.48943T>G (TTN)	XP_024308864.1:p.Ser16315Ala
XM_024453097.1:c.46285T>G (TTN)	XP_024308865.1:p.Ser15429Ala
XM_024453098.1:c.46204T>G (TTN)	XP_024308866.1:p.Ser15402Ala
XM_024453099.1:c.27967T>G (TTN)	XP_024308867.1:p.Ser9323Ala
XM_024453100.1:c.17821T>G (TTN)	XP_024308868.1:p.Ser5941Ala