Canonical Allele Identifier: CA349608003

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178614732T>G , CM000664.2:g.178614732T>G	GRCh38
NC_000002.11:g.179479459T>G , CM000664.1:g.179479459T>G	GRCh37
NC_000002.10:g.179187704T>G	NCBI36
NG_011618.3:g.221071A>C , LRG_391:g.221071A>C
NG_051363.1:g.96906T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48782A>C (TTN) MANE Select	NP_001254479.2:p.Asp16261Ala
ENST00000589042.5:c.48782A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp16261Ala
NM_001256850.1:c.43859A>C (TTN)	NP_001243779.1:p.Asp14620Ala
NM_003319.4:c.21587A>C (TTN)	NP_003310.4:p.Asp7196Ala
NM_133378.4:c.41078A>C (TTN)	NP_596869.4:p.Asp13693Ala
NM_133432.3:c.21962A>C (TTN)	NP_597676.3:p.Asp7321Ala
NM_133437.4:c.22163A>C (TTN)	NP_597681.4:p.Asp7388Ala
NR_038271.1:n.1480T>G (TTN-AS1)
ENST00000342175.10:c.22163A>C (TTN)	ENSP00000340554.6:p.Asp7388Ala
ENST00000342175.11:c.22163A>C (TTN)	ENSP00000340554.6:p.Asp7388Ala
ENST00000342992.10:c.41078A>C (TTN)	ENSP00000343764.6:p.Asp13693Ala
ENST00000342992.11:c.41078A>C (TTN)	ENSP00000343764.6:p.Asp13693Ala
ENST00000359218.10:c.21962A>C (TTN)	ENSP00000352154.5:p.Asp7321Ala
ENST00000359218.9:c.21962A>C (TTN)	ENSP00000352154.5:p.Asp7321Ala
ENST00000460472.6:c.21587A>C (TTN)	ENSP00000434586.1:p.Asp7196Ala
ENST00000591111.5:c.43859A>C (TTN)	ENSP00000465570.1:p.Asp14620Ala
ENST00000615779.4:c.43859A>C (TTN)	ENSP00000483597.1:p.Asp14620Ala
XM_011511729.1:c.47879A>C (TTN)	XP_011510031.1:p.Asp15960Ala
XM_011511730.1:c.21773A>C (TTN)	XP_011510032.1:p.Asp7258Ala
XM_011511731.1:c.21632A>C (TTN)	XP_011510033.1:p.Asp7211Ala
XM_017004819.1:c.47675A>C (TTN)	XP_016860308.1:p.Asp15892Ala
XM_017004820.1:c.43073A>C (TTN)	XP_016860309.1:p.Asp14358Ala
XM_017004821.1:c.43070A>C (TTN)	XP_016860310.1:p.Asp14357Ala
XM_017004822.1:c.40112A>C (TTN)	XP_016860311.1:p.Asp13371Ala
XM_017004823.1:c.21728A>C (TTN)	XP_016860312.1:p.Asp7243Ala
XM_024453094.1:c.43223A>C (TTN)	XP_024308862.1:p.Asp14408Ala
XM_024453095.1:c.43220A>C (TTN)	XP_024308863.1:p.Asp14407Ala
XM_024453096.1:c.42653A>C (TTN)	XP_024308864.1:p.Asp14218Ala
XM_024453097.1:c.39995A>C (TTN)	XP_024308865.1:p.Asp13332Ala
XM_024453098.1:c.39914A>C (TTN)	XP_024308866.1:p.Asp13305Ala
XM_024453099.1:c.21677A>C (TTN)	XP_024308867.1:p.Asp7226Ala
XM_024453100.1:c.11531A>C (TTN)	XP_024308868.1:p.Asp3844Ala