Canonical Allele Identifier: CA349612860

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433830C>G (hg19) ; chr2:g.178569103C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569103C>G , CM000664.2:g.178569103C>G	GRCh38
NC_000002.11:g.179433830C>G , CM000664.1:g.179433830C>G	GRCh37
NC_000002.10:g.179142076C>G	NCBI36
NG_011618.3:g.266700G>C , LRG_391:g.266700G>C
NG_051363.1:g.51277C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69325G>C (TTN)	ENSP00000343764.6:p.Ala23109Pro
ENST00000342175.11:c.50410G>C (TTN)	ENSP00000340554.6:p.Ala16804Pro
ENST00000359218.10:c.50209G>C (TTN)	ENSP00000352154.5:p.Ala16737Pro
ENST00000342175.10:c.50410G>C (TTN)	ENSP00000340554.6:p.Ala16804Pro
ENST00000342992.10:c.69325G>C (TTN)	ENSP00000343764.6:p.Ala23109Pro
ENST00000359218.9:c.50209G>C (TTN)	ENSP00000352154.5:p.Ala16737Pro
ENST00000460472.6:c.49834G>C (TTN)	ENSP00000434586.1:p.Ala16612Pro
ENST00000589042.5:c.77029G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala25677Pro
ENST00000591111.5:c.72106G>C (TTN)	ENSP00000465570.1:p.Ala24036Pro
ENST00000615779.4:c.72106G>C (TTN)	ENSP00000483597.1:p.Ala24036Pro
NM_001256850.1:c.72106G>C (TTN)	NP_001243779.1:p.Ala24036Pro
NM_001267550.2:c.77029G>C (TTN) MANE Select	NP_001254479.2:p.Ala25677Pro
NM_003319.4:c.49834G>C (TTN)	NP_003310.4:p.Ala16612Pro
NM_133378.4:c.69325G>C (TTN)	NP_596869.4:p.Ala23109Pro
NM_133432.3:c.50209G>C (TTN)	NP_597676.3:p.Ala16737Pro
NM_133437.4:c.50410G>C (TTN)	NP_597681.4:p.Ala16804Pro
NR_038271.1:n.447-2197C>G (TTN-AS1)
NR_038272.1:n.2044-13469C>G (TTN-AS1)
XM_011511729.1:c.76126G>C (TTN)	XP_011510031.1:p.Ala25376Pro
XM_011511730.1:c.50020G>C (TTN)	XP_011510032.1:p.Ala16674Pro
XM_011511731.1:c.49879G>C (TTN)	XP_011510033.1:p.Ala16627Pro
XM_017004819.1:c.75922G>C (TTN)	XP_016860308.1:p.Ala25308Pro
XM_017004820.1:c.71320G>C (TTN)	XP_016860309.1:p.Ala23774Pro
XM_017004821.1:c.71317G>C (TTN)	XP_016860310.1:p.Ala23773Pro
XM_017004822.1:c.68359G>C (TTN)	XP_016860311.1:p.Ala22787Pro
XM_017004823.1:c.49975G>C (TTN)	XP_016860312.1:p.Ala16659Pro
XM_024453094.1:c.71470G>C (TTN)	XP_024308862.1:p.Ala23824Pro
XM_024453095.1:c.71467G>C (TTN)	XP_024308863.1:p.Ala23823Pro
XM_024453096.1:c.70900G>C (TTN)	XP_024308864.1:p.Ala23634Pro
XM_024453097.1:c.68242G>C (TTN)	XP_024308865.1:p.Ala22748Pro
XM_024453098.1:c.68161G>C (TTN)	XP_024308866.1:p.Ala22721Pro
XM_024453099.1:c.49924G>C (TTN)	XP_024308867.1:p.Ala16642Pro
XM_024453100.1:c.39778G>C (TTN)	XP_024308868.1:p.Ala13260Pro