Canonical Allele Identifier: CA349568884

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1576365218
• MyVariant Identifiers: chr2:g.179472404C>A (hg19) ; chr2:g.178607677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607677C>A , CM000664.2:g.178607677C>A	GRCh38
NC_000002.11:g.179472404C>A , CM000664.1:g.179472404C>A	GRCh37
NC_000002.10:g.179180649C>A	NCBI36
NG_011618.3:g.228126G>T , LRG_391:g.228126G>T
NG_051363.1:g.89851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45307G>T (TTN)	ENSP00000343764.6:p.Ala15103Ser
ENST00000342175.11:c.26392G>T (TTN)	ENSP00000340554.6:p.Ala8798Ser
ENST00000359218.10:c.26191G>T (TTN)	ENSP00000352154.5:p.Ala8731Ser
ENST00000342175.10:c.26392G>T (TTN)	ENSP00000340554.6:p.Ala8798Ser
ENST00000342992.10:c.45307G>T (TTN)	ENSP00000343764.6:p.Ala15103Ser
ENST00000359218.9:c.26191G>T (TTN)	ENSP00000352154.5:p.Ala8731Ser
ENST00000460472.6:c.25816G>T (TTN)	ENSP00000434586.1:p.Ala8606Ser
ENST00000589042.5:c.53011G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala17671Ser
ENST00000591111.5:c.48088G>T (TTN)	ENSP00000465570.1:p.Ala16030Ser
ENST00000615779.4:c.48088G>T (TTN)	ENSP00000483597.1:p.Ala16030Ser
NM_001256850.1:c.48088G>T (TTN)	NP_001243779.1:p.Ala16030Ser
NM_001267550.2:c.53011G>T (TTN) MANE Select	NP_001254479.2:p.Ala17671Ser
NM_003319.4:c.25816G>T (TTN)	NP_003310.4:p.Ala8606Ser
NM_133378.4:c.45307G>T (TTN)	NP_596869.4:p.Ala15103Ser
NM_133432.3:c.26191G>T (TTN)	NP_597676.3:p.Ala8731Ser
NM_133437.4:c.26392G>T (TTN)	NP_597681.4:p.Ala8798Ser
NR_038271.1:n.683-490C>A (TTN-AS1)
XM_011511729.1:c.52108G>T (TTN)	XP_011510031.1:p.Ala17370Ser
XM_011511730.1:c.26002G>T (TTN)	XP_011510032.1:p.Ala8668Ser
XM_011511731.1:c.25861G>T (TTN)	XP_011510033.1:p.Ala8621Ser
XM_017004819.1:c.51904G>T (TTN)	XP_016860308.1:p.Ala17302Ser
XM_017004820.1:c.47302G>T (TTN)	XP_016860309.1:p.Ala15768Ser
XM_017004821.1:c.47299G>T (TTN)	XP_016860310.1:p.Ala15767Ser
XM_017004822.1:c.44341G>T (TTN)	XP_016860311.1:p.Ala14781Ser
XM_017004823.1:c.25957G>T (TTN)	XP_016860312.1:p.Ala8653Ser
XM_024453094.1:c.47452G>T (TTN)	XP_024308862.1:p.Ala15818Ser
XM_024453095.1:c.47449G>T (TTN)	XP_024308863.1:p.Ala15817Ser
XM_024453096.1:c.46882G>T (TTN)	XP_024308864.1:p.Ala15628Ser
XM_024453097.1:c.44224G>T (TTN)	XP_024308865.1:p.Ala14742Ser
XM_024453098.1:c.44143G>T (TTN)	XP_024308866.1:p.Ala14715Ser
XM_024453099.1:c.25906G>T (TTN)	XP_024308867.1:p.Ala8636Ser
XM_024453100.1:c.15760G>T (TTN)	XP_024308868.1:p.Ala5254Ser