Canonical Allele Identifier: CA349398136

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391740T>A (hg19) ; chr2:g.178527013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527013T>A , CM000664.2:g.178527013T>A	GRCh38
NC_000002.11:g.179391740T>A , CM000664.1:g.179391740T>A	GRCh37
NC_000002.10:g.179099986T>A	NCBI36
NG_011618.3:g.308790A>T , LRG_391:g.308790A>T
NG_051363.1:g.9187T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100271A>T (TTN)	ENSP00000343764.6:p.Ter33424Leu
ENST00000342175.11:c.81356A>T (TTN)	ENSP00000340554.6:p.Ter27119Leu
ENST00000359218.10:c.81155A>T (TTN)	ENSP00000352154.5:p.Ter27052Leu
ENST00000342175.10:c.81356A>T (TTN)	ENSP00000340554.6:p.Ter27119Leu
ENST00000342992.10:c.100271A>T (TTN)	ENSP00000343764.6:p.Ter33424Leu
ENST00000359218.9:c.81155A>T (TTN)	ENSP00000352154.5:p.Ter27052Leu
ENST00000460472.6:c.80780A>T (TTN)	ENSP00000434586.1:p.Ter26927Leu
ENST00000589042.5:c.107975A>T (TTN) MANE Select	ENSP00000467141.1:p.Ter35992Leu
ENST00000591111.5:c.103052A>T (TTN)	ENSP00000465570.1:p.Ter34351Leu
ENST00000615779.4:c.103052A>T (TTN)	ENSP00000483597.1:p.Ter34351Leu
NM_001256850.1:c.103052A>T (TTN)	NP_001243779.1:p.Ter34351Leu
NM_001267550.2:c.107975A>T (TTN) MANE Select	NP_001254479.2:p.Ter35992Leu
NM_003319.4:c.80780A>T (TTN)	NP_003310.4:p.Ter26927Leu
NM_133378.4:c.100271A>T (TTN)	NP_596869.4:p.Ter33424Leu
NM_133432.3:c.81155A>T (TTN)	NP_597676.3:p.Ter27052Leu
NM_133437.4:c.81356A>T (TTN)	NP_597681.4:p.Ter27119Leu
NR_038271.1:n.446+3377T>A (TTN-AS1)
NR_038272.1:n.219+3377T>A (TTN-AS1)
XM_011511729.1:c.107072A>T (TTN)	XP_011510031.1:p.Ter35691Leu
XM_011511730.1:c.80966A>T (TTN)	XP_011510032.1:p.Ter26989Leu
XM_011511731.1:c.80825A>T (TTN)	XP_011510033.1:p.Ter26942Leu
XM_017004819.1:c.106868A>T (TTN)	XP_016860308.1:p.Ter35623Leu
XM_017004820.1:c.102266A>T (TTN)	XP_016860309.1:p.Ter34089Leu
XM_017004821.1:c.102263A>T (TTN)	XP_016860310.1:p.Ter34088Leu
XM_017004822.1:c.99305A>T (TTN)	XP_016860311.1:p.Ter33102Leu
XM_017004823.1:c.80921A>T (TTN)	XP_016860312.1:p.Ter26974Leu
XM_024453094.1:c.102416A>T (TTN)	XP_024308862.1:p.Ter34139Leu
XM_024453095.1:c.102413A>T (TTN)	XP_024308863.1:p.Ter34138Leu
XM_024453096.1:c.101846A>T (TTN)	XP_024308864.1:p.Ter33949Leu
XM_024453097.1:c.99188A>T (TTN)	XP_024308865.1:p.Ter33063Leu
XM_024453098.1:c.99107A>T (TTN)	XP_024308866.1:p.Ter33036Leu
XM_024453099.1:c.80870A>T (TTN)	XP_024308867.1:p.Ter26957Leu
XM_024453100.1:c.70724A>T (TTN)	XP_024308868.1:p.Ter23575Leu