Canonical Allele Identifier: CA349424999

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400796C>T (hg19) ; chr2:g.178536069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536069C>T , CM000664.2:g.178536069C>T	GRCh38
NC_000002.11:g.179400796C>T , CM000664.1:g.179400796C>T	GRCh37
NC_000002.10:g.179109042C>T	NCBI36
NG_011618.3:g.299734G>A , LRG_391:g.299734G>A
NG_051363.1:g.18243C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92974G>A (TTN)	ENSP00000343764.6:p.Val30992Ile
ENST00000342175.11:c.74059G>A (TTN)	ENSP00000340554.6:p.Val24687Ile
ENST00000359218.10:c.73858G>A (TTN)	ENSP00000352154.5:p.Val24620Ile
ENST00000342175.10:c.74059G>A (TTN)	ENSP00000340554.6:p.Val24687Ile
ENST00000342992.10:c.92974G>A (TTN)	ENSP00000343764.6:p.Val30992Ile
ENST00000359218.9:c.73858G>A (TTN)	ENSP00000352154.5:p.Val24620Ile
ENST00000460472.6:c.73483G>A (TTN)	ENSP00000434586.1:p.Val24495Ile
ENST00000589042.5:c.100678G>A (TTN) MANE Select	ENSP00000467141.1:p.Val33560Ile
ENST00000591111.5:c.95755G>A (TTN)	ENSP00000465570.1:p.Val31919Ile
ENST00000615779.4:c.95755G>A (TTN)	ENSP00000483597.1:p.Val31919Ile
NM_001256850.1:c.95755G>A (TTN)	NP_001243779.1:p.Val31919Ile
NM_001267550.2:c.100678G>A (TTN) MANE Select	NP_001254479.2:p.Val33560Ile
NM_003319.4:c.73483G>A (TTN)	NP_003310.4:p.Val24495Ile
NM_133378.4:c.92974G>A (TTN)	NP_596869.4:p.Val30992Ile
NM_133432.3:c.73858G>A (TTN)	NP_597676.3:p.Val24620Ile
NM_133437.4:c.74059G>A (TTN)	NP_597681.4:p.Val24687Ile
NR_038271.1:n.446+12433C>T (TTN-AS1)
NR_038272.1:n.316+241C>T (TTN-AS1)
XM_011511729.1:c.99775G>A (TTN)	XP_011510031.1:p.Val33259Ile
XM_011511730.1:c.73669G>A (TTN)	XP_011510032.1:p.Val24557Ile
XM_011511731.1:c.73528G>A (TTN)	XP_011510033.1:p.Val24510Ile
XM_017004819.1:c.99571G>A (TTN)	XP_016860308.1:p.Val33191Ile
XM_017004820.1:c.94969G>A (TTN)	XP_016860309.1:p.Val31657Ile
XM_017004821.1:c.94966G>A (TTN)	XP_016860310.1:p.Val31656Ile
XM_017004822.1:c.92008G>A (TTN)	XP_016860311.1:p.Val30670Ile
XM_017004823.1:c.73624G>A (TTN)	XP_016860312.1:p.Val24542Ile
XM_024453094.1:c.95119G>A (TTN)	XP_024308862.1:p.Val31707Ile
XM_024453095.1:c.95116G>A (TTN)	XP_024308863.1:p.Val31706Ile
XM_024453096.1:c.94549G>A (TTN)	XP_024308864.1:p.Val31517Ile
XM_024453097.1:c.91891G>A (TTN)	XP_024308865.1:p.Val30631Ile
XM_024453098.1:c.91810G>A (TTN)	XP_024308866.1:p.Val30604Ile
XM_024453099.1:c.73573G>A (TTN)	XP_024308867.1:p.Val24525Ile
XM_024453100.1:c.63427G>A (TTN)	XP_024308868.1:p.Val21143Ile