Canonical Allele Identifier: CA349406980

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530490-C-T
• MyVariant Identifiers: chr2:g.179395217C>T (hg19) ; chr2:g.178530490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530490C>T , CM000664.2:g.178530490C>T	GRCh38
NC_000002.11:g.179395217C>T , CM000664.1:g.179395217C>T	GRCh37
NC_000002.10:g.179103463C>T	NCBI36
NG_011618.3:g.305313G>A , LRG_391:g.305313G>A
NG_051363.1:g.12664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98421G>A (TTN)	ENSP00000343764.6:p.Met32807Ile
ENST00000342175.11:c.79506G>A (TTN)	ENSP00000340554.6:p.Met26502Ile
ENST00000359218.10:c.79305G>A (TTN)	ENSP00000352154.5:p.Met26435Ile
ENST00000342175.10:c.79506G>A (TTN)	ENSP00000340554.6:p.Met26502Ile
ENST00000342992.10:c.98421G>A (TTN)	ENSP00000343764.6:p.Met32807Ile
ENST00000359218.9:c.79305G>A (TTN)	ENSP00000352154.5:p.Met26435Ile
ENST00000460472.6:c.78930G>A (TTN)	ENSP00000434586.1:p.Met26310Ile
ENST00000589042.5:c.106125G>A (TTN) MANE Select	ENSP00000467141.1:p.Met35375Ile
ENST00000591111.5:c.101202G>A (TTN)	ENSP00000465570.1:p.Met33734Ile
ENST00000615779.4:c.101202G>A (TTN)	ENSP00000483597.1:p.Met33734Ile
NM_001256850.1:c.101202G>A (TTN)	NP_001243779.1:p.Met33734Ile
NM_001267550.2:c.106125G>A (TTN) MANE Select	NP_001254479.2:p.Met35375Ile
NM_003319.4:c.78930G>A (TTN)	NP_003310.4:p.Met26310Ile
NM_133378.4:c.98421G>A (TTN)	NP_596869.4:p.Met32807Ile
NM_133432.3:c.79305G>A (TTN)	NP_597676.3:p.Met26435Ile
NM_133437.4:c.79506G>A (TTN)	NP_597681.4:p.Met26502Ile
NR_038271.1:n.446+6854C>T (TTN-AS1)
NR_038272.1:n.220-5242C>T (TTN-AS1)
XM_011511729.1:c.105222G>A (TTN)	XP_011510031.1:p.Met35074Ile
XM_011511730.1:c.79116G>A (TTN)	XP_011510032.1:p.Met26372Ile
XM_011511731.1:c.78975G>A (TTN)	XP_011510033.1:p.Met26325Ile
XM_017004819.1:c.105018G>A (TTN)	XP_016860308.1:p.Met35006Ile
XM_017004820.1:c.100416G>A (TTN)	XP_016860309.1:p.Met33472Ile
XM_017004821.1:c.100413G>A (TTN)	XP_016860310.1:p.Met33471Ile
XM_017004822.1:c.97455G>A (TTN)	XP_016860311.1:p.Met32485Ile
XM_017004823.1:c.79071G>A (TTN)	XP_016860312.1:p.Met26357Ile
XM_024453094.1:c.100566G>A (TTN)	XP_024308862.1:p.Met33522Ile
XM_024453095.1:c.100563G>A (TTN)	XP_024308863.1:p.Met33521Ile
XM_024453096.1:c.99996G>A (TTN)	XP_024308864.1:p.Met33332Ile
XM_024453097.1:c.97338G>A (TTN)	XP_024308865.1:p.Met32446Ile
XM_024453098.1:c.97257G>A (TTN)	XP_024308866.1:p.Met32419Ile
XM_024453099.1:c.79020G>A (TTN)	XP_024308867.1:p.Met26340Ile
XM_024453100.1:c.68874G>A (TTN)	XP_024308868.1:p.Met22958Ile