Canonical Allele Identifier: CA349618430

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482808T>G (hg19) ; chr2:g.178618081T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618081T>G , CM000664.2:g.178618081T>G	GRCh38
NC_000002.11:g.179482808T>G , CM000664.1:g.179482808T>G	GRCh37
NC_000002.10:g.179191053T>G	NCBI36
NG_011618.3:g.217722A>C , LRG_391:g.217722A>C
NG_051363.1:g.100255T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39566A>C (TTN)	ENSP00000343764.6:p.Asp13189Ala
ENST00000342175.11:c.20651A>C (TTN)	ENSP00000340554.6:p.Asp6884Ala
ENST00000359218.10:c.20450A>C (TTN)	ENSP00000352154.5:p.Asp6817Ala
ENST00000342175.10:c.20651A>C (TTN)	ENSP00000340554.6:p.Asp6884Ala
ENST00000342992.10:c.39566A>C (TTN)	ENSP00000343764.6:p.Asp13189Ala
ENST00000359218.9:c.20450A>C (TTN)	ENSP00000352154.5:p.Asp6817Ala
ENST00000460472.6:c.20075A>C (TTN)	ENSP00000434586.1:p.Asp6692Ala
ENST00000589042.5:c.47270A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp15757Ala
ENST00000591111.5:c.42347A>C (TTN)	ENSP00000465570.1:p.Asp14116Ala
ENST00000615779.4:c.42347A>C (TTN)	ENSP00000483597.1:p.Asp14116Ala
NM_001256850.1:c.42347A>C (TTN)	NP_001243779.1:p.Asp14116Ala
NM_001267550.2:c.47270A>C (TTN) MANE Select	NP_001254479.2:p.Asp15757Ala
NM_003319.4:c.20075A>C (TTN)	NP_003310.4:p.Asp6692Ala
NM_133378.4:c.39566A>C (TTN)	NP_596869.4:p.Asp13189Ala
NM_133432.3:c.20450A>C (TTN)	NP_597676.3:p.Asp6817Ala
NM_133437.4:c.20651A>C (TTN)	NP_597681.4:p.Asp6884Ala
NR_038271.1:n.1605-1672T>G (TTN-AS1)
XM_011511729.1:c.46367A>C (TTN)	XP_011510031.1:p.Asp15456Ala
XM_011511730.1:c.20261A>C (TTN)	XP_011510032.1:p.Asp6754Ala
XM_011511731.1:c.20120A>C (TTN)	XP_011510033.1:p.Asp6707Ala
XM_017004819.1:c.46163A>C (TTN)	XP_016860308.1:p.Asp15388Ala
XM_017004820.1:c.41561A>C (TTN)	XP_016860309.1:p.Asp13854Ala
XM_017004821.1:c.41558A>C (TTN)	XP_016860310.1:p.Asp13853Ala
XM_017004822.1:c.38600A>C (TTN)	XP_016860311.1:p.Asp12867Ala
XM_017004823.1:c.20216A>C (TTN)	XP_016860312.1:p.Asp6739Ala
XM_024453094.1:c.41711A>C (TTN)	XP_024308862.1:p.Asp13904Ala
XM_024453095.1:c.41708A>C (TTN)	XP_024308863.1:p.Asp13903Ala
XM_024453096.1:c.41141A>C (TTN)	XP_024308864.1:p.Asp13714Ala
XM_024453097.1:c.38483A>C (TTN)	XP_024308865.1:p.Asp12828Ala
XM_024453098.1:c.38402A>C (TTN)	XP_024308866.1:p.Asp12801Ala
XM_024453099.1:c.20165A>C (TTN)	XP_024308867.1:p.Asp6722Ala
XM_024453100.1:c.10019A>C (TTN)	XP_024308868.1:p.Asp3340Ala