Canonical Allele Identifier: CA1991093

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1707138
• ClinVar RCV Id: RCV002286054
• dbSNP Id: rs777547127
• ExAC: 2:179442735 A / G
• gnomAD v2: 2-179442735-A-G
• gnomAD v4: 2-178578008-A-G
• MyVariant Identifiers: chr2:g.179442735A>G (hg19) ; chr2:g.178578008A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578008A>G , CM000664.2:g.178578008A>G	GRCh38
NC_000002.11:g.179442735A>G , CM000664.1:g.179442735A>G	GRCh37
NC_000002.10:g.179150981A>G	NCBI36
NG_011618.3:g.257795T>C , LRG_391:g.257795T>C
NG_051363.1:g.60182A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60803T>C (TTN)	ENSP00000343764.6:p.Val20268Ala
ENST00000342175.11:c.41888T>C (TTN)	ENSP00000340554.6:p.Val13963Ala
ENST00000359218.10:c.41687T>C (TTN)	ENSP00000352154.5:p.Val13896Ala
ENST00000342175.10:c.41888T>C (TTN)	ENSP00000340554.6:p.Val13963Ala
ENST00000342992.10:c.60803T>C (TTN)	ENSP00000343764.6:p.Val20268Ala
ENST00000359218.9:c.41687T>C (TTN)	ENSP00000352154.5:p.Val13896Ala
ENST00000460472.6:c.41312T>C (TTN)	ENSP00000434586.1:p.Val13771Ala
ENST00000589042.5:c.68507T>C (TTN) MANE Select	ENSP00000467141.1:p.Val22836Ala
ENST00000591111.5:c.63584T>C (TTN)	ENSP00000465570.1:p.Val21195Ala
ENST00000615779.4:c.63584T>C (TTN)	ENSP00000483597.1:p.Val21195Ala
NM_001256850.1:c.63584T>C (TTN)	NP_001243779.1:p.Val21195Ala
NM_001267550.2:c.68507T>C (TTN) MANE Select	NP_001254479.2:p.Val22836Ala
NM_003319.4:c.41312T>C (TTN)	NP_003310.4:p.Val13771Ala
NM_133378.4:c.60803T>C (TTN)	NP_596869.4:p.Val20268Ala
NM_133432.3:c.41687T>C (TTN)	NP_597676.3:p.Val13896Ala
NM_133437.4:c.41888T>C (TTN)	NP_597681.4:p.Val13963Ala
NR_038271.1:n.596+6559A>G (TTN-AS1)
NR_038272.1:n.2044-4564A>G (TTN-AS1)
XM_011511729.1:c.67604T>C (TTN)	XP_011510031.1:p.Val22535Ala
XM_011511730.1:c.41498T>C (TTN)	XP_011510032.1:p.Val13833Ala
XM_011511731.1:c.41357T>C (TTN)	XP_011510033.1:p.Val13786Ala
XM_017004819.1:c.67400T>C (TTN)	XP_016860308.1:p.Val22467Ala
XM_017004820.1:c.62798T>C (TTN)	XP_016860309.1:p.Val20933Ala
XM_017004821.1:c.62795T>C (TTN)	XP_016860310.1:p.Val20932Ala
XM_017004822.1:c.59837T>C (TTN)	XP_016860311.1:p.Val19946Ala
XM_017004823.1:c.41453T>C (TTN)	XP_016860312.1:p.Val13818Ala
XM_024453094.1:c.62948T>C (TTN)	XP_024308862.1:p.Val20983Ala
XM_024453095.1:c.62945T>C (TTN)	XP_024308863.1:p.Val20982Ala
XM_024453096.1:c.62378T>C (TTN)	XP_024308864.1:p.Val20793Ala
XM_024453097.1:c.59720T>C (TTN)	XP_024308865.1:p.Val19907Ala
XM_024453098.1:c.59639T>C (TTN)	XP_024308866.1:p.Val19880Ala
XM_024453099.1:c.41402T>C (TTN)	XP_024308867.1:p.Val13801Ala
XM_024453100.1:c.31256T>C (TTN)	XP_024308868.1:p.Val10419Ala