Canonical Allele Identifier: CA349499690

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457900C>G (hg19) ; chr2:g.178593173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593173C>G , CM000664.2:g.178593173C>G	GRCh38
NC_000002.11:g.179457900C>G , CM000664.1:g.179457900C>G	GRCh37
NC_000002.10:g.179166146C>G	NCBI36
NG_011618.3:g.242630G>C , LRG_391:g.242630G>C
NG_051363.1:g.75347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51331G>C (TTN)	ENSP00000343764.6:p.Ala17111Pro
ENST00000342175.11:c.32416G>C (TTN)	ENSP00000340554.6:p.Ala10806Pro
ENST00000359218.10:c.32215G>C (TTN)	ENSP00000352154.5:p.Ala10739Pro
ENST00000342175.10:c.32416G>C (TTN)	ENSP00000340554.6:p.Ala10806Pro
ENST00000342992.10:c.51331G>C (TTN)	ENSP00000343764.6:p.Ala17111Pro
ENST00000359218.9:c.32215G>C (TTN)	ENSP00000352154.5:p.Ala10739Pro
ENST00000460472.6:c.31840G>C (TTN)	ENSP00000434586.1:p.Ala10614Pro
ENST00000589042.5:c.59035G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala19679Pro
ENST00000591111.5:c.54112G>C (TTN)	ENSP00000465570.1:p.Ala18038Pro
ENST00000615779.4:c.54112G>C (TTN)	ENSP00000483597.1:p.Ala18038Pro
NM_001256850.1:c.54112G>C (TTN)	NP_001243779.1:p.Ala18038Pro
NM_001267550.2:c.59035G>C (TTN) MANE Select	NP_001254479.2:p.Ala19679Pro
NM_003319.4:c.31840G>C (TTN)	NP_003310.4:p.Ala10614Pro
NM_133378.4:c.51331G>C (TTN)	NP_596869.4:p.Ala17111Pro
NM_133432.3:c.32215G>C (TTN)	NP_597676.3:p.Ala10739Pro
NM_133437.4:c.32416G>C (TTN)	NP_597681.4:p.Ala10806Pro
NR_038271.1:n.597-4423C>G (TTN-AS1)
NR_038272.1:n.3364+1859C>G (TTN-AS1)
XM_011511729.1:c.58132G>C (TTN)	XP_011510031.1:p.Ala19378Pro
XM_011511730.1:c.32026G>C (TTN)	XP_011510032.1:p.Ala10676Pro
XM_011511731.1:c.31885G>C (TTN)	XP_011510033.1:p.Ala10629Pro
XM_017004819.1:c.57928G>C (TTN)	XP_016860308.1:p.Ala19310Pro
XM_017004820.1:c.53326G>C (TTN)	XP_016860309.1:p.Ala17776Pro
XM_017004821.1:c.53323G>C (TTN)	XP_016860310.1:p.Ala17775Pro
XM_017004822.1:c.50365G>C (TTN)	XP_016860311.1:p.Ala16789Pro
XM_017004823.1:c.31981G>C (TTN)	XP_016860312.1:p.Ala10661Pro
XM_024453094.1:c.53476G>C (TTN)	XP_024308862.1:p.Ala17826Pro
XM_024453095.1:c.53473G>C (TTN)	XP_024308863.1:p.Ala17825Pro
XM_024453096.1:c.52906G>C (TTN)	XP_024308864.1:p.Ala17636Pro
XM_024453097.1:c.50248G>C (TTN)	XP_024308865.1:p.Ala16750Pro
XM_024453098.1:c.50167G>C (TTN)	XP_024308866.1:p.Ala16723Pro
XM_024453099.1:c.31930G>C (TTN)	XP_024308867.1:p.Ala10644Pro
XM_024453100.1:c.21784G>C (TTN)	XP_024308868.1:p.Ala7262Pro