Canonical Allele Identifier: CA349564229

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76120A>T (TTN)	ENSP00000343764.6:p.Lys25374Ter
ENST00000342175.11:c.57205A>T (TTN)	ENSP00000340554.6:p.Lys19069Ter
ENST00000359218.10:c.57004A>T (TTN)	ENSP00000352154.5:p.Lys19002Ter
ENST00000342175.10:c.57205A>T (TTN)	ENSP00000340554.6:p.Lys19069Ter
ENST00000342992.10:c.76120A>T (TTN)	ENSP00000343764.6:p.Lys25374Ter
ENST00000359218.9:c.57004A>T (TTN)	ENSP00000352154.5:p.Lys19002Ter
ENST00000460472.6:c.56629A>T (TTN)	ENSP00000434586.1:p.Lys18877Ter
ENST00000589042.5:c.83824A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys27942Ter
ENST00000591111.5:c.78901A>T (TTN)	ENSP00000465570.1:p.Lys26301Ter
ENST00000615779.4:c.78901A>T (TTN)	ENSP00000483597.1:p.Lys26301Ter
NM_001256850.1:c.78901A>T (TTN)	NP_001243779.1:p.Lys26301Ter
NM_001267550.2:c.83824A>T (TTN) MANE Select	NP_001254479.2:p.Lys27942Ter
NM_003319.4:c.56629A>T (TTN)	NP_003310.4:p.Lys18877Ter
NM_133378.4:c.76120A>T (TTN)	NP_596869.4:p.Lys25374Ter
NM_133432.3:c.57004A>T (TTN)	NP_597676.3:p.Lys19002Ter
NM_133437.4:c.57205A>T (TTN)	NP_597681.4:p.Lys19069Ter
NR_038271.1:n.447-8992T>A (TTN-AS1)
NR_038272.1:n.2043+19947T>A (TTN-AS1)
XM_011511729.1:c.82921A>T (TTN)	XP_011510031.1:p.Lys27641Ter
XM_011511730.1:c.56815A>T (TTN)	XP_011510032.1:p.Lys18939Ter
XM_011511731.1:c.56674A>T (TTN)	XP_011510033.1:p.Lys18892Ter
XM_017004819.1:c.82717A>T (TTN)	XP_016860308.1:p.Lys27573Ter
XM_017004820.1:c.78115A>T (TTN)	XP_016860309.1:p.Lys26039Ter
XM_017004821.1:c.78112A>T (TTN)	XP_016860310.1:p.Lys26038Ter
XM_017004822.1:c.75154A>T (TTN)	XP_016860311.1:p.Lys25052Ter
XM_017004823.1:c.56770A>T (TTN)	XP_016860312.1:p.Lys18924Ter
XM_024453094.1:c.78265A>T (TTN)	XP_024308862.1:p.Lys26089Ter
XM_024453095.1:c.78262A>T (TTN)	XP_024308863.1:p.Lys26088Ter
XM_024453096.1:c.77695A>T (TTN)	XP_024308864.1:p.Lys25899Ter
XM_024453097.1:c.75037A>T (TTN)	XP_024308865.1:p.Lys25013Ter
XM_024453098.1:c.74956A>T (TTN)	XP_024308866.1:p.Lys24986Ter
XM_024453099.1:c.56719A>T (TTN)	XP_024308867.1:p.Lys18907Ter
XM_024453100.1:c.46573A>T (TTN)	XP_024308868.1:p.Lys15525Ter