Canonical Allele Identifier: CA349435456

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1060500388
• MyVariant Identifiers: chr2:g.179449206A>C (hg19) ; chr2:g.178584479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584479A>C , CM000664.2:g.178584479A>C	GRCh38
NC_000002.11:g.179449206A>C , CM000664.1:g.179449206A>C	GRCh37
NC_000002.10:g.179157452A>C	NCBI36
NG_011618.3:g.251324T>G , LRG_391:g.251324T>G
NG_051363.1:g.66653A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57368T>G (TTN)	ENSP00000343764.6:p.Ile19123Ser
ENST00000342175.11:c.38453T>G (TTN)	ENSP00000340554.6:p.Ile12818Ser
ENST00000359218.10:c.38252T>G (TTN)	ENSP00000352154.5:p.Ile12751Ser
ENST00000342175.10:c.38453T>G (TTN)	ENSP00000340554.6:p.Ile12818Ser
ENST00000342992.10:c.57368T>G (TTN)	ENSP00000343764.6:p.Ile19123Ser
ENST00000359218.9:c.38252T>G (TTN)	ENSP00000352154.5:p.Ile12751Ser
ENST00000460472.6:c.37877T>G (TTN)	ENSP00000434586.1:p.Ile12626Ser
ENST00000589042.5:c.65072T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile21691Ser
ENST00000591111.5:c.60149T>G (TTN)	ENSP00000465570.1:p.Ile20050Ser
ENST00000615779.4:c.60149T>G (TTN)	ENSP00000483597.1:p.Ile20050Ser
NM_001256850.1:c.60149T>G (TTN)	NP_001243779.1:p.Ile20050Ser
NM_001267550.2:c.65072T>G (TTN) MANE Select	NP_001254479.2:p.Ile21691Ser
NM_003319.4:c.37877T>G (TTN)	NP_003310.4:p.Ile12626Ser
NM_133378.4:c.57368T>G (TTN)	NP_596869.4:p.Ile19123Ser
NM_133432.3:c.38252T>G (TTN)	NP_597676.3:p.Ile12751Ser
NM_133437.4:c.38453T>G (TTN)	NP_597681.4:p.Ile12818Ser
NR_038271.1:n.596+13030A>C (TTN-AS1)
NR_038272.1:n.2768-94A>C (TTN-AS1)
XM_011511729.1:c.64169T>G (TTN)	XP_011510031.1:p.Ile21390Ser
XM_011511730.1:c.38063T>G (TTN)	XP_011510032.1:p.Ile12688Ser
XM_011511731.1:c.37922T>G (TTN)	XP_011510033.1:p.Ile12641Ser
XM_017004819.1:c.63965T>G (TTN)	XP_016860308.1:p.Ile21322Ser
XM_017004820.1:c.59363T>G (TTN)	XP_016860309.1:p.Ile19788Ser
XM_017004821.1:c.59360T>G (TTN)	XP_016860310.1:p.Ile19787Ser
XM_017004822.1:c.56402T>G (TTN)	XP_016860311.1:p.Ile18801Ser
XM_017004823.1:c.38018T>G (TTN)	XP_016860312.1:p.Ile12673Ser
XM_024453094.1:c.59513T>G (TTN)	XP_024308862.1:p.Ile19838Ser
XM_024453095.1:c.59510T>G (TTN)	XP_024308863.1:p.Ile19837Ser
XM_024453096.1:c.58943T>G (TTN)	XP_024308864.1:p.Ile19648Ser
XM_024453097.1:c.56285T>G (TTN)	XP_024308865.1:p.Ile18762Ser
XM_024453098.1:c.56204T>G (TTN)	XP_024308866.1:p.Ile18735Ser
XM_024453099.1:c.37967T>G (TTN)	XP_024308867.1:p.Ile12656Ser
XM_024453100.1:c.27821T>G (TTN)	XP_024308868.1:p.Ile9274Ser