Canonical Allele Identifier: CA349500169

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178593233-C-G
• MyVariant Identifiers: chr2:g.179457960C>G (hg19) ; chr2:g.178593233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593233C>G , CM000664.2:g.178593233C>G	GRCh38
NC_000002.11:g.179457960C>G , CM000664.1:g.179457960C>G	GRCh37
NC_000002.10:g.179166206C>G	NCBI36
NG_011618.3:g.242570G>C , LRG_391:g.242570G>C
NG_051363.1:g.75407C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51271G>C (TTN)	ENSP00000343764.6:p.Glu17091Gln
ENST00000342175.11:c.32356G>C (TTN)	ENSP00000340554.6:p.Glu10786Gln
ENST00000359218.10:c.32155G>C (TTN)	ENSP00000352154.5:p.Glu10719Gln
ENST00000342175.10:c.32356G>C (TTN)	ENSP00000340554.6:p.Glu10786Gln
ENST00000342992.10:c.51271G>C (TTN)	ENSP00000343764.6:p.Glu17091Gln
ENST00000359218.9:c.32155G>C (TTN)	ENSP00000352154.5:p.Glu10719Gln
ENST00000460472.6:c.31780G>C (TTN)	ENSP00000434586.1:p.Glu10594Gln
ENST00000589042.5:c.58975G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu19659Gln
ENST00000591111.5:c.54052G>C (TTN)	ENSP00000465570.1:p.Glu18018Gln
ENST00000615779.4:c.54052G>C (TTN)	ENSP00000483597.1:p.Glu18018Gln
NM_001256850.1:c.54052G>C (TTN)	NP_001243779.1:p.Glu18018Gln
NM_001267550.2:c.58975G>C (TTN) MANE Select	NP_001254479.2:p.Glu19659Gln
NM_003319.4:c.31780G>C (TTN)	NP_003310.4:p.Glu10594Gln
NM_133378.4:c.51271G>C (TTN)	NP_596869.4:p.Glu17091Gln
NM_133432.3:c.32155G>C (TTN)	NP_597676.3:p.Glu10719Gln
NM_133437.4:c.32356G>C (TTN)	NP_597681.4:p.Glu10786Gln
NR_038271.1:n.597-4363C>G (TTN-AS1)
NR_038272.1:n.3364+1919C>G (TTN-AS1)
XM_011511729.1:c.58072G>C (TTN)	XP_011510031.1:p.Glu19358Gln
XM_011511730.1:c.31966G>C (TTN)	XP_011510032.1:p.Glu10656Gln
XM_011511731.1:c.31825G>C (TTN)	XP_011510033.1:p.Glu10609Gln
XM_017004819.1:c.57868G>C (TTN)	XP_016860308.1:p.Glu19290Gln
XM_017004820.1:c.53266G>C (TTN)	XP_016860309.1:p.Glu17756Gln
XM_017004821.1:c.53263G>C (TTN)	XP_016860310.1:p.Glu17755Gln
XM_017004822.1:c.50305G>C (TTN)	XP_016860311.1:p.Glu16769Gln
XM_017004823.1:c.31921G>C (TTN)	XP_016860312.1:p.Glu10641Gln
XM_024453094.1:c.53416G>C (TTN)	XP_024308862.1:p.Glu17806Gln
XM_024453095.1:c.53413G>C (TTN)	XP_024308863.1:p.Glu17805Gln
XM_024453096.1:c.52846G>C (TTN)	XP_024308864.1:p.Glu17616Gln
XM_024453097.1:c.50188G>C (TTN)	XP_024308865.1:p.Glu16730Gln
XM_024453098.1:c.50107G>C (TTN)	XP_024308866.1:p.Glu16703Gln
XM_024453099.1:c.31870G>C (TTN)	XP_024308867.1:p.Glu10624Gln
XM_024453100.1:c.21724G>C (TTN)	XP_024308868.1:p.Glu7242Gln