Canonical Allele Identifier: CA349535016

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179422429A>T (hg19) ; chr2:g.178557702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557702A>T , CM000664.2:g.178557702A>T	GRCh38
NC_000002.11:g.179422429A>T , CM000664.1:g.179422429A>T	GRCh37
NC_000002.10:g.179130675A>T	NCBI36
NG_011618.3:g.278101T>A , LRG_391:g.278101T>A
NG_051363.1:g.39876A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79948T>A (TTN)	ENSP00000343764.6:p.Phe26650Ile
ENST00000342175.11:c.61033T>A (TTN)	ENSP00000340554.6:p.Phe20345Ile
ENST00000359218.10:c.60832T>A (TTN)	ENSP00000352154.5:p.Phe20278Ile
ENST00000342175.10:c.61033T>A (TTN)	ENSP00000340554.6:p.Phe20345Ile
ENST00000342992.10:c.79948T>A (TTN)	ENSP00000343764.6:p.Phe26650Ile
ENST00000359218.9:c.60832T>A (TTN)	ENSP00000352154.5:p.Phe20278Ile
ENST00000460472.6:c.60457T>A (TTN)	ENSP00000434586.1:p.Phe20153Ile
ENST00000589042.5:c.87652T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe29218Ile
ENST00000591111.5:c.82729T>A (TTN)	ENSP00000465570.1:p.Phe27577Ile
ENST00000615779.4:c.82729T>A (TTN)	ENSP00000483597.1:p.Phe27577Ile
NM_001256850.1:c.82729T>A (TTN)	NP_001243779.1:p.Phe27577Ile
NM_001267550.2:c.87652T>A (TTN) MANE Select	NP_001254479.2:p.Phe29218Ile
NM_003319.4:c.60457T>A (TTN)	NP_003310.4:p.Phe20153Ile
NM_133378.4:c.79948T>A (TTN)	NP_596869.4:p.Phe26650Ile
NM_133432.3:c.60832T>A (TTN)	NP_597676.3:p.Phe20278Ile
NM_133437.4:c.61033T>A (TTN)	NP_597681.4:p.Phe20345Ile
NR_038271.1:n.447-13598A>T (TTN-AS1)
NR_038272.1:n.2043+15341A>T (TTN-AS1)
XM_011511729.1:c.86749T>A (TTN)	XP_011510031.1:p.Phe28917Ile
XM_011511730.1:c.60643T>A (TTN)	XP_011510032.1:p.Phe20215Ile
XM_011511731.1:c.60502T>A (TTN)	XP_011510033.1:p.Phe20168Ile
XM_017004819.1:c.86545T>A (TTN)	XP_016860308.1:p.Phe28849Ile
XM_017004820.1:c.81943T>A (TTN)	XP_016860309.1:p.Phe27315Ile
XM_017004821.1:c.81940T>A (TTN)	XP_016860310.1:p.Phe27314Ile
XM_017004822.1:c.78982T>A (TTN)	XP_016860311.1:p.Phe26328Ile
XM_017004823.1:c.60598T>A (TTN)	XP_016860312.1:p.Phe20200Ile
XM_024453094.1:c.82093T>A (TTN)	XP_024308862.1:p.Phe27365Ile
XM_024453095.1:c.82090T>A (TTN)	XP_024308863.1:p.Phe27364Ile
XM_024453096.1:c.81523T>A (TTN)	XP_024308864.1:p.Phe27175Ile
XM_024453097.1:c.78865T>A (TTN)	XP_024308865.1:p.Phe26289Ile
XM_024453098.1:c.78784T>A (TTN)	XP_024308866.1:p.Phe26262Ile
XM_024453099.1:c.60547T>A (TTN)	XP_024308867.1:p.Phe20183Ile
XM_024453100.1:c.50401T>A (TTN)	XP_024308868.1:p.Phe16801Ile