Canonical Allele Identifier: CA349490045

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1698209011
• MyVariant Identifiers: chr2:g.179413487T>C (hg19) ; chr2:g.178548760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548760T>C , CM000664.2:g.178548760T>C	GRCh38
NC_000002.11:g.179413487T>C , CM000664.1:g.179413487T>C	GRCh37
NC_000002.10:g.179121733T>C	NCBI36
NG_011618.3:g.287043A>G , LRG_391:g.287043A>G
NG_051363.1:g.30934T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85162A>G (TTN)	ENSP00000343764.6:p.Thr28388Ala
ENST00000342175.11:c.66247A>G (TTN)	ENSP00000340554.6:p.Thr22083Ala
ENST00000359218.10:c.66046A>G (TTN)	ENSP00000352154.5:p.Thr22016Ala
ENST00000342175.10:c.66247A>G (TTN)	ENSP00000340554.6:p.Thr22083Ala
ENST00000342992.10:c.85162A>G (TTN)	ENSP00000343764.6:p.Thr28388Ala
ENST00000359218.9:c.66046A>G (TTN)	ENSP00000352154.5:p.Thr22016Ala
ENST00000460472.6:c.65671A>G (TTN)	ENSP00000434586.1:p.Thr21891Ala
ENST00000589042.5:c.92866A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr30956Ala
ENST00000591111.5:c.87943A>G (TTN)	ENSP00000465570.1:p.Thr29315Ala
ENST00000615779.4:c.87943A>G (TTN)	ENSP00000483597.1:p.Thr29315Ala
NM_001256850.1:c.87943A>G (TTN)	NP_001243779.1:p.Thr29315Ala
NM_001267550.2:c.92866A>G (TTN) MANE Select	NP_001254479.2:p.Thr30956Ala
NM_003319.4:c.65671A>G (TTN)	NP_003310.4:p.Thr21891Ala
NM_133378.4:c.85162A>G (TTN)	NP_596869.4:p.Thr28388Ala
NM_133432.3:c.66046A>G (TTN)	NP_597676.3:p.Thr22016Ala
NM_133437.4:c.66247A>G (TTN)	NP_597681.4:p.Thr22083Ala
NR_038271.1:n.447-22540T>C (TTN-AS1)
NR_038272.1:n.2043+6399T>C (TTN-AS1)
XM_011511729.1:c.91963A>G (TTN)	XP_011510031.1:p.Thr30655Ala
XM_011511730.1:c.65857A>G (TTN)	XP_011510032.1:p.Thr21953Ala
XM_011511731.1:c.65716A>G (TTN)	XP_011510033.1:p.Thr21906Ala
XM_017004819.1:c.91759A>G (TTN)	XP_016860308.1:p.Thr30587Ala
XM_017004820.1:c.87157A>G (TTN)	XP_016860309.1:p.Thr29053Ala
XM_017004821.1:c.87154A>G (TTN)	XP_016860310.1:p.Thr29052Ala
XM_017004822.1:c.84196A>G (TTN)	XP_016860311.1:p.Thr28066Ala
XM_017004823.1:c.65812A>G (TTN)	XP_016860312.1:p.Thr21938Ala
XM_024453094.1:c.87307A>G (TTN)	XP_024308862.1:p.Thr29103Ala
XM_024453095.1:c.87304A>G (TTN)	XP_024308863.1:p.Thr29102Ala
XM_024453096.1:c.86737A>G (TTN)	XP_024308864.1:p.Thr28913Ala
XM_024453097.1:c.84079A>G (TTN)	XP_024308865.1:p.Thr28027Ala
XM_024453098.1:c.83998A>G (TTN)	XP_024308866.1:p.Thr28000Ala
XM_024453099.1:c.65761A>G (TTN)	XP_024308867.1:p.Thr21921Ala
XM_024453100.1:c.55615A>G (TTN)	XP_024308868.1:p.Thr18539Ala