Canonical Allele Identifier: CA349435983

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449303C>A (hg19) ; chr2:g.178584576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584576C>A , CM000664.2:g.178584576C>A	GRCh38
NC_000002.11:g.179449303C>A , CM000664.1:g.179449303C>A	GRCh37
NC_000002.10:g.179157549C>A	NCBI36
NG_011618.3:g.251227G>T , LRG_391:g.251227G>T
NG_051363.1:g.66750C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57271G>T (TTN)	ENSP00000343764.6:p.Val19091Phe
ENST00000342175.11:c.38356G>T (TTN)	ENSP00000340554.6:p.Val12786Phe
ENST00000359218.10:c.38155G>T (TTN)	ENSP00000352154.5:p.Val12719Phe
ENST00000342175.10:c.38356G>T (TTN)	ENSP00000340554.6:p.Val12786Phe
ENST00000342992.10:c.57271G>T (TTN)	ENSP00000343764.6:p.Val19091Phe
ENST00000359218.9:c.38155G>T (TTN)	ENSP00000352154.5:p.Val12719Phe
ENST00000460472.6:c.37780G>T (TTN)	ENSP00000434586.1:p.Val12594Phe
ENST00000589042.5:c.64975G>T (TTN) MANE Select	ENSP00000467141.1:p.Val21659Phe
ENST00000591111.5:c.60052G>T (TTN)	ENSP00000465570.1:p.Val20018Phe
ENST00000615779.4:c.60052G>T (TTN)	ENSP00000483597.1:p.Val20018Phe
NM_001256850.1:c.60052G>T (TTN)	NP_001243779.1:p.Val20018Phe
NM_001267550.2:c.64975G>T (TTN) MANE Select	NP_001254479.2:p.Val21659Phe
NM_003319.4:c.37780G>T (TTN)	NP_003310.4:p.Val12594Phe
NM_133378.4:c.57271G>T (TTN)	NP_596869.4:p.Val19091Phe
NM_133432.3:c.38155G>T (TTN)	NP_597676.3:p.Val12719Phe
NM_133437.4:c.38356G>T (TTN)	NP_597681.4:p.Val12786Phe
NR_038271.1:n.597-13020C>A (TTN-AS1)
NR_038272.1:n.2771C>A (TTN-AS1)
XM_011511729.1:c.64072G>T (TTN)	XP_011510031.1:p.Val21358Phe
XM_011511730.1:c.37966G>T (TTN)	XP_011510032.1:p.Val12656Phe
XM_011511731.1:c.37825G>T (TTN)	XP_011510033.1:p.Val12609Phe
XM_017004819.1:c.63868G>T (TTN)	XP_016860308.1:p.Val21290Phe
XM_017004820.1:c.59266G>T (TTN)	XP_016860309.1:p.Val19756Phe
XM_017004821.1:c.59263G>T (TTN)	XP_016860310.1:p.Val19755Phe
XM_017004822.1:c.56305G>T (TTN)	XP_016860311.1:p.Val18769Phe
XM_017004823.1:c.37921G>T (TTN)	XP_016860312.1:p.Val12641Phe
XM_024453094.1:c.59416G>T (TTN)	XP_024308862.1:p.Val19806Phe
XM_024453095.1:c.59413G>T (TTN)	XP_024308863.1:p.Val19805Phe
XM_024453096.1:c.58846G>T (TTN)	XP_024308864.1:p.Val19616Phe
XM_024453097.1:c.56188G>T (TTN)	XP_024308865.1:p.Val18730Phe
XM_024453098.1:c.56107G>T (TTN)	XP_024308866.1:p.Val18703Phe
XM_024453099.1:c.37870G>T (TTN)	XP_024308867.1:p.Val12624Phe
XM_024453100.1:c.27724G>T (TTN)	XP_024308868.1:p.Val9242Phe