Canonical Allele Identifier: CA349541140

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466265T>A (hg19) ; chr2:g.178601538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601538T>A , CM000664.2:g.178601538T>A	GRCh38
NC_000002.11:g.179466265T>A , CM000664.1:g.179466265T>A	GRCh37
NC_000002.10:g.179174510T>A	NCBI36
NG_011618.3:g.234265A>T , LRG_391:g.234265A>T
NG_051363.1:g.83712T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47755A>T (TTN)	ENSP00000343764.6:p.Lys15919Ter
ENST00000342175.11:c.28840A>T (TTN)	ENSP00000340554.6:p.Lys9614Ter
ENST00000359218.10:c.28639A>T (TTN)	ENSP00000352154.5:p.Lys9547Ter
ENST00000342175.10:c.28840A>T (TTN)	ENSP00000340554.6:p.Lys9614Ter
ENST00000342992.10:c.47755A>T (TTN)	ENSP00000343764.6:p.Lys15919Ter
ENST00000359218.9:c.28639A>T (TTN)	ENSP00000352154.5:p.Lys9547Ter
ENST00000460472.6:c.28264A>T (TTN)	ENSP00000434586.1:p.Lys9422Ter
ENST00000589042.5:c.55459A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys18487Ter
ENST00000591111.5:c.50536A>T (TTN)	ENSP00000465570.1:p.Lys16846Ter
ENST00000615779.4:c.50536A>T (TTN)	ENSP00000483597.1:p.Lys16846Ter
NM_001256850.1:c.50536A>T (TTN)	NP_001243779.1:p.Lys16846Ter
NM_001267550.2:c.55459A>T (TTN) MANE Select	NP_001254479.2:p.Lys18487Ter
NM_003319.4:c.28264A>T (TTN)	NP_003310.4:p.Lys9422Ter
NM_133378.4:c.47755A>T (TTN)	NP_596869.4:p.Lys15919Ter
NM_133432.3:c.28639A>T (TTN)	NP_597676.3:p.Lys9547Ter
NM_133437.4:c.28840A>T (TTN)	NP_597681.4:p.Lys9614Ter
NR_038271.1:n.682+3857T>A (TTN-AS1)
NR_038272.1:n.3917+871T>A (TTN-AS1)
XM_011511729.1:c.54556A>T (TTN)	XP_011510031.1:p.Lys18186Ter
XM_011511730.1:c.28450A>T (TTN)	XP_011510032.1:p.Lys9484Ter
XM_011511731.1:c.28309A>T (TTN)	XP_011510033.1:p.Lys9437Ter
XM_017004819.1:c.54352A>T (TTN)	XP_016860308.1:p.Lys18118Ter
XM_017004820.1:c.49750A>T (TTN)	XP_016860309.1:p.Lys16584Ter
XM_017004821.1:c.49747A>T (TTN)	XP_016860310.1:p.Lys16583Ter
XM_017004822.1:c.46789A>T (TTN)	XP_016860311.1:p.Lys15597Ter
XM_017004823.1:c.28405A>T (TTN)	XP_016860312.1:p.Lys9469Ter
XM_024453094.1:c.49900A>T (TTN)	XP_024308862.1:p.Lys16634Ter
XM_024453095.1:c.49897A>T (TTN)	XP_024308863.1:p.Lys16633Ter
XM_024453096.1:c.49330A>T (TTN)	XP_024308864.1:p.Lys16444Ter
XM_024453097.1:c.46672A>T (TTN)	XP_024308865.1:p.Lys15558Ter
XM_024453098.1:c.46591A>T (TTN)	XP_024308866.1:p.Lys15531Ter
XM_024453099.1:c.28354A>T (TTN)	XP_024308867.1:p.Lys9452Ter
XM_024453100.1:c.18208A>T (TTN)	XP_024308868.1:p.Lys6070Ter