Canonical Allele Identifier: CA349500167

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457960C>A (hg19) ; chr2:g.178593233C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51271G>T (TTN)	ENSP00000343764.6:p.Glu17091Ter
ENST00000342175.11:c.32356G>T (TTN)	ENSP00000340554.6:p.Glu10786Ter
ENST00000359218.10:c.32155G>T (TTN)	ENSP00000352154.5:p.Glu10719Ter
ENST00000342175.10:c.32356G>T (TTN)	ENSP00000340554.6:p.Glu10786Ter
ENST00000342992.10:c.51271G>T (TTN)	ENSP00000343764.6:p.Glu17091Ter
ENST00000359218.9:c.32155G>T (TTN)	ENSP00000352154.5:p.Glu10719Ter
ENST00000460472.6:c.31780G>T (TTN)	ENSP00000434586.1:p.Glu10594Ter
ENST00000589042.5:c.58975G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19659Ter
ENST00000591111.5:c.54052G>T (TTN)	ENSP00000465570.1:p.Glu18018Ter
ENST00000615779.4:c.54052G>T (TTN)	ENSP00000483597.1:p.Glu18018Ter
NM_001256850.1:c.54052G>T (TTN)	NP_001243779.1:p.Glu18018Ter
NM_001267550.2:c.58975G>T (TTN) MANE Select	NP_001254479.2:p.Glu19659Ter
NM_003319.4:c.31780G>T (TTN)	NP_003310.4:p.Glu10594Ter
NM_133378.4:c.51271G>T (TTN)	NP_596869.4:p.Glu17091Ter
NM_133432.3:c.32155G>T (TTN)	NP_597676.3:p.Glu10719Ter
NM_133437.4:c.32356G>T (TTN)	NP_597681.4:p.Glu10786Ter
NR_038271.1:n.597-4363C>A (TTN-AS1)
NR_038272.1:n.3364+1919C>A (TTN-AS1)
XM_011511729.1:c.58072G>T (TTN)	XP_011510031.1:p.Glu19358Ter
XM_011511730.1:c.31966G>T (TTN)	XP_011510032.1:p.Glu10656Ter
XM_011511731.1:c.31825G>T (TTN)	XP_011510033.1:p.Glu10609Ter
XM_017004819.1:c.57868G>T (TTN)	XP_016860308.1:p.Glu19290Ter
XM_017004820.1:c.53266G>T (TTN)	XP_016860309.1:p.Glu17756Ter
XM_017004821.1:c.53263G>T (TTN)	XP_016860310.1:p.Glu17755Ter
XM_017004822.1:c.50305G>T (TTN)	XP_016860311.1:p.Glu16769Ter
XM_017004823.1:c.31921G>T (TTN)	XP_016860312.1:p.Glu10641Ter
XM_024453094.1:c.53416G>T (TTN)	XP_024308862.1:p.Glu17806Ter
XM_024453095.1:c.53413G>T (TTN)	XP_024308863.1:p.Glu17805Ter
XM_024453096.1:c.52846G>T (TTN)	XP_024308864.1:p.Glu17616Ter
XM_024453097.1:c.50188G>T (TTN)	XP_024308865.1:p.Glu16730Ter
XM_024453098.1:c.50107G>T (TTN)	XP_024308866.1:p.Glu16703Ter
XM_024453099.1:c.31870G>T (TTN)	XP_024308867.1:p.Glu10624Ter
XM_024453100.1:c.21724G>T (TTN)	XP_024308868.1:p.Glu7242Ter