Canonical Allele Identifier: CA349564232

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427035T>G (hg19) ; chr2:g.178562308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562308T>G , CM000664.2:g.178562308T>G	GRCh38
NC_000002.11:g.179427035T>G , CM000664.1:g.179427035T>G	GRCh37
NC_000002.10:g.179135281T>G	NCBI36
NG_011618.3:g.273495A>C , LRG_391:g.273495A>C
NG_051363.1:g.44482T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76120A>C (TTN)	ENSP00000343764.6:p.Lys25374Gln
ENST00000342175.11:c.57205A>C (TTN)	ENSP00000340554.6:p.Lys19069Gln
ENST00000359218.10:c.57004A>C (TTN)	ENSP00000352154.5:p.Lys19002Gln
ENST00000342175.10:c.57205A>C (TTN)	ENSP00000340554.6:p.Lys19069Gln
ENST00000342992.10:c.76120A>C (TTN)	ENSP00000343764.6:p.Lys25374Gln
ENST00000359218.9:c.57004A>C (TTN)	ENSP00000352154.5:p.Lys19002Gln
ENST00000460472.6:c.56629A>C (TTN)	ENSP00000434586.1:p.Lys18877Gln
ENST00000589042.5:c.83824A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys27942Gln
ENST00000591111.5:c.78901A>C (TTN)	ENSP00000465570.1:p.Lys26301Gln
ENST00000615779.4:c.78901A>C (TTN)	ENSP00000483597.1:p.Lys26301Gln
NM_001256850.1:c.78901A>C (TTN)	NP_001243779.1:p.Lys26301Gln
NM_001267550.2:c.83824A>C (TTN) MANE Select	NP_001254479.2:p.Lys27942Gln
NM_003319.4:c.56629A>C (TTN)	NP_003310.4:p.Lys18877Gln
NM_133378.4:c.76120A>C (TTN)	NP_596869.4:p.Lys25374Gln
NM_133432.3:c.57004A>C (TTN)	NP_597676.3:p.Lys19002Gln
NM_133437.4:c.57205A>C (TTN)	NP_597681.4:p.Lys19069Gln
NR_038271.1:n.447-8992T>G (TTN-AS1)
NR_038272.1:n.2043+19947T>G (TTN-AS1)
XM_011511729.1:c.82921A>C (TTN)	XP_011510031.1:p.Lys27641Gln
XM_011511730.1:c.56815A>C (TTN)	XP_011510032.1:p.Lys18939Gln
XM_011511731.1:c.56674A>C (TTN)	XP_011510033.1:p.Lys18892Gln
XM_017004819.1:c.82717A>C (TTN)	XP_016860308.1:p.Lys27573Gln
XM_017004820.1:c.78115A>C (TTN)	XP_016860309.1:p.Lys26039Gln
XM_017004821.1:c.78112A>C (TTN)	XP_016860310.1:p.Lys26038Gln
XM_017004822.1:c.75154A>C (TTN)	XP_016860311.1:p.Lys25052Gln
XM_017004823.1:c.56770A>C (TTN)	XP_016860312.1:p.Lys18924Gln
XM_024453094.1:c.78265A>C (TTN)	XP_024308862.1:p.Lys26089Gln
XM_024453095.1:c.78262A>C (TTN)	XP_024308863.1:p.Lys26088Gln
XM_024453096.1:c.77695A>C (TTN)	XP_024308864.1:p.Lys25899Gln
XM_024453097.1:c.75037A>C (TTN)	XP_024308865.1:p.Lys25013Gln
XM_024453098.1:c.74956A>C (TTN)	XP_024308866.1:p.Lys24986Gln
XM_024453099.1:c.56719A>C (TTN)	XP_024308867.1:p.Lys18907Gln
XM_024453100.1:c.46573A>C (TTN)	XP_024308868.1:p.Lys15525Gln