Canonical Allele Identifier: CA349531001

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179421696G>T (hg19) ; chr2:g.178556969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178556969G>T , CM000664.2:g.178556969G>T	GRCh38
NC_000002.11:g.179421696G>T , CM000664.1:g.179421696G>T	GRCh37
NC_000002.10:g.179129942G>T	NCBI36
NG_011618.3:g.278834C>A , LRG_391:g.278834C>A
NG_051363.1:g.39143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80481C>A (TTN)	ENSP00000343764.6:p.Phe26827Leu
ENST00000342175.11:c.61566C>A (TTN)	ENSP00000340554.6:p.Phe20522Leu
ENST00000359218.10:c.61365C>A (TTN)	ENSP00000352154.5:p.Phe20455Leu
ENST00000342175.10:c.61566C>A (TTN)	ENSP00000340554.6:p.Phe20522Leu
ENST00000342992.10:c.80481C>A (TTN)	ENSP00000343764.6:p.Phe26827Leu
ENST00000359218.9:c.61365C>A (TTN)	ENSP00000352154.5:p.Phe20455Leu
ENST00000460472.6:c.60990C>A (TTN)	ENSP00000434586.1:p.Phe20330Leu
ENST00000589042.5:c.88185C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe29395Leu
ENST00000591111.5:c.83262C>A (TTN)	ENSP00000465570.1:p.Phe27754Leu
ENST00000615779.4:c.83262C>A (TTN)	ENSP00000483597.1:p.Phe27754Leu
NM_001256850.1:c.83262C>A (TTN)	NP_001243779.1:p.Phe27754Leu
NM_001267550.2:c.88185C>A (TTN) MANE Select	NP_001254479.2:p.Phe29395Leu
NM_003319.4:c.60990C>A (TTN)	NP_003310.4:p.Phe20330Leu
NM_133378.4:c.80481C>A (TTN)	NP_596869.4:p.Phe26827Leu
NM_133432.3:c.61365C>A (TTN)	NP_597676.3:p.Phe20455Leu
NM_133437.4:c.61566C>A (TTN)	NP_597681.4:p.Phe20522Leu
NR_038271.1:n.447-14331G>T (TTN-AS1)
NR_038272.1:n.2043+14608G>T (TTN-AS1)
XM_011511729.1:c.87282C>A (TTN)	XP_011510031.1:p.Phe29094Leu
XM_011511730.1:c.61176C>A (TTN)	XP_011510032.1:p.Phe20392Leu
XM_011511731.1:c.61035C>A (TTN)	XP_011510033.1:p.Phe20345Leu
XM_017004819.1:c.87078C>A (TTN)	XP_016860308.1:p.Phe29026Leu
XM_017004820.1:c.82476C>A (TTN)	XP_016860309.1:p.Phe27492Leu
XM_017004821.1:c.82473C>A (TTN)	XP_016860310.1:p.Phe27491Leu
XM_017004822.1:c.79515C>A (TTN)	XP_016860311.1:p.Phe26505Leu
XM_017004823.1:c.61131C>A (TTN)	XP_016860312.1:p.Phe20377Leu
XM_024453094.1:c.82626C>A (TTN)	XP_024308862.1:p.Phe27542Leu
XM_024453095.1:c.82623C>A (TTN)	XP_024308863.1:p.Phe27541Leu
XM_024453096.1:c.82056C>A (TTN)	XP_024308864.1:p.Phe27352Leu
XM_024453097.1:c.79398C>A (TTN)	XP_024308865.1:p.Phe26466Leu
XM_024453098.1:c.79317C>A (TTN)	XP_024308866.1:p.Phe26439Leu
XM_024453099.1:c.61080C>A (TTN)	XP_024308867.1:p.Phe20360Leu
XM_024453100.1:c.50934C>A (TTN)	XP_024308868.1:p.Phe16978Leu