Canonical Allele Identifier: CA349618808

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482945T>G (hg19) ; chr2:g.178618218T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618218T>G , CM000664.2:g.178618218T>G	GRCh38
NC_000002.11:g.179482945T>G , CM000664.1:g.179482945T>G	GRCh37
NC_000002.10:g.179191190T>G	NCBI36
NG_011618.3:g.217585A>C , LRG_391:g.217585A>C
NG_051363.1:g.100392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39536A>C (TTN)	ENSP00000343764.6:p.Asp13179Ala
ENST00000342175.11:c.20621A>C (TTN)	ENSP00000340554.6:p.Asp6874Ala
ENST00000359218.10:c.20420A>C (TTN)	ENSP00000352154.5:p.Asp6807Ala
ENST00000342175.10:c.20621A>C (TTN)	ENSP00000340554.6:p.Asp6874Ala
ENST00000342992.10:c.39536A>C (TTN)	ENSP00000343764.6:p.Asp13179Ala
ENST00000359218.9:c.20420A>C (TTN)	ENSP00000352154.5:p.Asp6807Ala
ENST00000460472.6:c.20045A>C (TTN)	ENSP00000434586.1:p.Asp6682Ala
ENST00000589042.5:c.47240A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp15747Ala
ENST00000591111.5:c.42317A>C (TTN)	ENSP00000465570.1:p.Asp14106Ala
ENST00000615779.4:c.42317A>C (TTN)	ENSP00000483597.1:p.Asp14106Ala
NM_001256850.1:c.42317A>C (TTN)	NP_001243779.1:p.Asp14106Ala
NM_001267550.2:c.47240A>C (TTN) MANE Select	NP_001254479.2:p.Asp15747Ala
NM_003319.4:c.20045A>C (TTN)	NP_003310.4:p.Asp6682Ala
NM_133378.4:c.39536A>C (TTN)	NP_596869.4:p.Asp13179Ala
NM_133432.3:c.20420A>C (TTN)	NP_597676.3:p.Asp6807Ala
NM_133437.4:c.20621A>C (TTN)	NP_597681.4:p.Asp6874Ala
NR_038271.1:n.1605-1535T>G (TTN-AS1)
XM_011511729.1:c.46337A>C (TTN)	XP_011510031.1:p.Asp15446Ala
XM_011511730.1:c.20231A>C (TTN)	XP_011510032.1:p.Asp6744Ala
XM_011511731.1:c.20090A>C (TTN)	XP_011510033.1:p.Asp6697Ala
XM_017004819.1:c.46133A>C (TTN)	XP_016860308.1:p.Asp15378Ala
XM_017004820.1:c.41531A>C (TTN)	XP_016860309.1:p.Asp13844Ala
XM_017004821.1:c.41528A>C (TTN)	XP_016860310.1:p.Asp13843Ala
XM_017004822.1:c.38570A>C (TTN)	XP_016860311.1:p.Asp12857Ala
XM_017004823.1:c.20186A>C (TTN)	XP_016860312.1:p.Asp6729Ala
XM_024453094.1:c.41681A>C (TTN)	XP_024308862.1:p.Asp13894Ala
XM_024453095.1:c.41678A>C (TTN)	XP_024308863.1:p.Asp13893Ala
XM_024453096.1:c.41111A>C (TTN)	XP_024308864.1:p.Asp13704Ala
XM_024453097.1:c.38453A>C (TTN)	XP_024308865.1:p.Asp12818Ala
XM_024453098.1:c.38372A>C (TTN)	XP_024308866.1:p.Asp12791Ala
XM_024453099.1:c.20135A>C (TTN)	XP_024308867.1:p.Asp6712Ala
XM_024453100.1:c.9989A>C (TTN)	XP_024308868.1:p.Asp3330Ala