Canonical Allele Identifier: CA349511835

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1699864955
• MyVariant Identifiers: chr2:g.179417301T>G (hg19) ; chr2:g.178552574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552574T>G , CM000664.2:g.178552574T>G	GRCh38
NC_000002.11:g.179417301T>G , CM000664.1:g.179417301T>G	GRCh37
NC_000002.10:g.179125547T>G	NCBI36
NG_011618.3:g.283229A>C , LRG_391:g.283229A>C
NG_051363.1:g.34748T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82622A>C (TTN)	ENSP00000343764.6:p.Lys27541Thr
ENST00000342175.11:c.63707A>C (TTN)	ENSP00000340554.6:p.Lys21236Thr
ENST00000359218.10:c.63506A>C (TTN)	ENSP00000352154.5:p.Lys21169Thr
ENST00000342175.10:c.63707A>C (TTN)	ENSP00000340554.6:p.Lys21236Thr
ENST00000342992.10:c.82622A>C (TTN)	ENSP00000343764.6:p.Lys27541Thr
ENST00000359218.9:c.63506A>C (TTN)	ENSP00000352154.5:p.Lys21169Thr
ENST00000460472.6:c.63131A>C (TTN)	ENSP00000434586.1:p.Lys21044Thr
ENST00000589042.5:c.90326A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys30109Thr
ENST00000591111.5:c.85403A>C (TTN)	ENSP00000465570.1:p.Lys28468Thr
ENST00000615779.4:c.85403A>C (TTN)	ENSP00000483597.1:p.Lys28468Thr
NM_001256850.1:c.85403A>C (TTN)	NP_001243779.1:p.Lys28468Thr
NM_001267550.2:c.90326A>C (TTN) MANE Select	NP_001254479.2:p.Lys30109Thr
NM_003319.4:c.63131A>C (TTN)	NP_003310.4:p.Lys21044Thr
NM_133378.4:c.82622A>C (TTN)	NP_596869.4:p.Lys27541Thr
NM_133432.3:c.63506A>C (TTN)	NP_597676.3:p.Lys21169Thr
NM_133437.4:c.63707A>C (TTN)	NP_597681.4:p.Lys21236Thr
NR_038271.1:n.447-18726T>G (TTN-AS1)
NR_038272.1:n.2043+10213T>G (TTN-AS1)
XM_011511729.1:c.89423A>C (TTN)	XP_011510031.1:p.Lys29808Thr
XM_011511730.1:c.63317A>C (TTN)	XP_011510032.1:p.Lys21106Thr
XM_011511731.1:c.63176A>C (TTN)	XP_011510033.1:p.Lys21059Thr
XM_017004819.1:c.89219A>C (TTN)	XP_016860308.1:p.Lys29740Thr
XM_017004820.1:c.84617A>C (TTN)	XP_016860309.1:p.Lys28206Thr
XM_017004821.1:c.84614A>C (TTN)	XP_016860310.1:p.Lys28205Thr
XM_017004822.1:c.81656A>C (TTN)	XP_016860311.1:p.Lys27219Thr
XM_017004823.1:c.63272A>C (TTN)	XP_016860312.1:p.Lys21091Thr
XM_024453094.1:c.84767A>C (TTN)	XP_024308862.1:p.Lys28256Thr
XM_024453095.1:c.84764A>C (TTN)	XP_024308863.1:p.Lys28255Thr
XM_024453096.1:c.84197A>C (TTN)	XP_024308864.1:p.Lys28066Thr
XM_024453097.1:c.81539A>C (TTN)	XP_024308865.1:p.Lys27180Thr
XM_024453098.1:c.81458A>C (TTN)	XP_024308866.1:p.Lys27153Thr
XM_024453099.1:c.63221A>C (TTN)	XP_024308867.1:p.Lys21074Thr
XM_024453100.1:c.53075A>C (TTN)	XP_024308868.1:p.Lys17692Thr