Canonical Allele Identifier: CA349479369

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455645A>T (hg19) ; chr2:g.178590918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590918A>T , CM000664.2:g.178590918A>T	GRCh38
NC_000002.11:g.179455645A>T , CM000664.1:g.179455645A>T	GRCh37
NC_000002.10:g.179163891A>T	NCBI36
NG_011618.3:g.244885T>A , LRG_391:g.244885T>A
NG_051363.1:g.73092A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53103T>A (TTN)	ENSP00000343764.6:p.Phe17701Leu
ENST00000342175.11:c.34188T>A (TTN)	ENSP00000340554.6:p.Phe11396Leu
ENST00000359218.10:c.33987T>A (TTN)	ENSP00000352154.5:p.Phe11329Leu
ENST00000342175.10:c.34188T>A (TTN)	ENSP00000340554.6:p.Phe11396Leu
ENST00000342992.10:c.53103T>A (TTN)	ENSP00000343764.6:p.Phe17701Leu
ENST00000359218.9:c.33987T>A (TTN)	ENSP00000352154.5:p.Phe11329Leu
ENST00000460472.6:c.33612T>A (TTN)	ENSP00000434586.1:p.Phe11204Leu
ENST00000589042.5:c.60807T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe20269Leu
ENST00000591111.5:c.55884T>A (TTN)	ENSP00000465570.1:p.Phe18628Leu
ENST00000615779.4:c.55884T>A (TTN)	ENSP00000483597.1:p.Phe18628Leu
NM_001256850.1:c.55884T>A (TTN)	NP_001243779.1:p.Phe18628Leu
NM_001267550.2:c.60807T>A (TTN) MANE Select	NP_001254479.2:p.Phe20269Leu
NM_003319.4:c.33612T>A (TTN)	NP_003310.4:p.Phe11204Leu
NM_133378.4:c.53103T>A (TTN)	NP_596869.4:p.Phe17701Leu
NM_133432.3:c.33987T>A (TTN)	NP_597676.3:p.Phe11329Leu
NM_133437.4:c.34188T>A (TTN)	NP_597681.4:p.Phe11396Leu
NR_038271.1:n.597-6678A>T (TTN-AS1)
NR_038272.1:n.3189-221A>T (TTN-AS1)
XM_011511729.1:c.59904T>A (TTN)	XP_011510031.1:p.Phe19968Leu
XM_011511730.1:c.33798T>A (TTN)	XP_011510032.1:p.Phe11266Leu
XM_011511731.1:c.33657T>A (TTN)	XP_011510033.1:p.Phe11219Leu
XM_017004819.1:c.59700T>A (TTN)	XP_016860308.1:p.Phe19900Leu
XM_017004820.1:c.55098T>A (TTN)	XP_016860309.1:p.Phe18366Leu
XM_017004821.1:c.55095T>A (TTN)	XP_016860310.1:p.Phe18365Leu
XM_017004822.1:c.52137T>A (TTN)	XP_016860311.1:p.Phe17379Leu
XM_017004823.1:c.33753T>A (TTN)	XP_016860312.1:p.Phe11251Leu
XM_024453094.1:c.55248T>A (TTN)	XP_024308862.1:p.Phe18416Leu
XM_024453095.1:c.55245T>A (TTN)	XP_024308863.1:p.Phe18415Leu
XM_024453096.1:c.54678T>A (TTN)	XP_024308864.1:p.Phe18226Leu
XM_024453097.1:c.52020T>A (TTN)	XP_024308865.1:p.Phe17340Leu
XM_024453098.1:c.51939T>A (TTN)	XP_024308866.1:p.Phe17313Leu
XM_024453099.1:c.33702T>A (TTN)	XP_024308867.1:p.Phe11234Leu
XM_024453100.1:c.23556T>A (TTN)	XP_024308868.1:p.Phe7852Leu