Canonical Allele Identifier: CA349636456

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179436983T>A (hg19) ; chr2:g.178572256T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572256T>A , CM000664.2:g.178572256T>A	GRCh38
NC_000002.11:g.179436983T>A , CM000664.1:g.179436983T>A	GRCh37
NC_000002.10:g.179145229T>A	NCBI36
NG_011618.3:g.263547A>T , LRG_391:g.263547A>T
NG_051363.1:g.54430T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.66172A>T (TTN)	ENSP00000343764.6:p.Met22058Leu
ENST00000342175.11:c.47257A>T (TTN)	ENSP00000340554.6:p.Met15753Leu
ENST00000359218.10:c.47056A>T (TTN)	ENSP00000352154.5:p.Met15686Leu
ENST00000342175.10:c.47257A>T (TTN)	ENSP00000340554.6:p.Met15753Leu
ENST00000342992.10:c.66172A>T (TTN)	ENSP00000343764.6:p.Met22058Leu
ENST00000359218.9:c.47056A>T (TTN)	ENSP00000352154.5:p.Met15686Leu
ENST00000460472.6:c.46681A>T (TTN)	ENSP00000434586.1:p.Met15561Leu
ENST00000589042.5:c.73876A>T (TTN) MANE Select	ENSP00000467141.1:p.Met24626Leu
ENST00000591111.5:c.68953A>T (TTN)	ENSP00000465570.1:p.Met22985Leu
ENST00000615779.4:c.68953A>T (TTN)	ENSP00000483597.1:p.Met22985Leu
NM_001256850.1:c.68953A>T (TTN)	NP_001243779.1:p.Met22985Leu
NM_001267550.2:c.73876A>T (TTN) MANE Select	NP_001254479.2:p.Met24626Leu
NM_003319.4:c.46681A>T (TTN)	NP_003310.4:p.Met15561Leu
NM_133378.4:c.66172A>T (TTN)	NP_596869.4:p.Met22058Leu
NM_133432.3:c.47056A>T (TTN)	NP_597676.3:p.Met15686Leu
NM_133437.4:c.47257A>T (TTN)	NP_597681.4:p.Met15753Leu
NR_038271.1:n.596+807T>A (TTN-AS1)
NR_038272.1:n.2044-10316T>A (TTN-AS1)
XM_011511729.1:c.72973A>T (TTN)	XP_011510031.1:p.Met24325Leu
XM_011511730.1:c.46867A>T (TTN)	XP_011510032.1:p.Met15623Leu
XM_011511731.1:c.46726A>T (TTN)	XP_011510033.1:p.Met15576Leu
XM_017004819.1:c.72769A>T (TTN)	XP_016860308.1:p.Met24257Leu
XM_017004820.1:c.68167A>T (TTN)	XP_016860309.1:p.Met22723Leu
XM_017004821.1:c.68164A>T (TTN)	XP_016860310.1:p.Met22722Leu
XM_017004822.1:c.65206A>T (TTN)	XP_016860311.1:p.Met21736Leu
XM_017004823.1:c.46822A>T (TTN)	XP_016860312.1:p.Met15608Leu
XM_024453094.1:c.68317A>T (TTN)	XP_024308862.1:p.Met22773Leu
XM_024453095.1:c.68314A>T (TTN)	XP_024308863.1:p.Met22772Leu
XM_024453096.1:c.67747A>T (TTN)	XP_024308864.1:p.Met22583Leu
XM_024453097.1:c.65089A>T (TTN)	XP_024308865.1:p.Met21697Leu
XM_024453098.1:c.65008A>T (TTN)	XP_024308866.1:p.Met21670Leu
XM_024453099.1:c.46771A>T (TTN)	XP_024308867.1:p.Met15591Leu
XM_024453100.1:c.36625A>T (TTN)	XP_024308868.1:p.Met12209Leu