Canonical Allele Identifier: CA349504001

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416561C>A (hg19) ; chr2:g.178551834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551834C>A , CM000664.2:g.178551834C>A	GRCh38
NC_000002.11:g.179416561C>A , CM000664.1:g.179416561C>A	GRCh37
NC_000002.10:g.179124807C>A	NCBI36
NG_011618.3:g.283969G>T , LRG_391:g.283969G>T
NG_051363.1:g.34008C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83362G>T (TTN)	ENSP00000343764.6:p.Val27788Phe
ENST00000342175.11:c.64447G>T (TTN)	ENSP00000340554.6:p.Val21483Phe
ENST00000359218.10:c.64246G>T (TTN)	ENSP00000352154.5:p.Val21416Phe
ENST00000342175.10:c.64447G>T (TTN)	ENSP00000340554.6:p.Val21483Phe
ENST00000342992.10:c.83362G>T (TTN)	ENSP00000343764.6:p.Val27788Phe
ENST00000359218.9:c.64246G>T (TTN)	ENSP00000352154.5:p.Val21416Phe
ENST00000460472.6:c.63871G>T (TTN)	ENSP00000434586.1:p.Val21291Phe
ENST00000589042.5:c.91066G>T (TTN) MANE Select	ENSP00000467141.1:p.Val30356Phe
ENST00000591111.5:c.86143G>T (TTN)	ENSP00000465570.1:p.Val28715Phe
ENST00000615779.4:c.86143G>T (TTN)	ENSP00000483597.1:p.Val28715Phe
NM_001256850.1:c.86143G>T (TTN)	NP_001243779.1:p.Val28715Phe
NM_001267550.2:c.91066G>T (TTN) MANE Select	NP_001254479.2:p.Val30356Phe
NM_003319.4:c.63871G>T (TTN)	NP_003310.4:p.Val21291Phe
NM_133378.4:c.83362G>T (TTN)	NP_596869.4:p.Val27788Phe
NM_133432.3:c.64246G>T (TTN)	NP_597676.3:p.Val21416Phe
NM_133437.4:c.64447G>T (TTN)	NP_597681.4:p.Val21483Phe
NR_038271.1:n.447-19466C>A (TTN-AS1)
NR_038272.1:n.2043+9473C>A (TTN-AS1)
XM_011511729.1:c.90163G>T (TTN)	XP_011510031.1:p.Val30055Phe
XM_011511730.1:c.64057G>T (TTN)	XP_011510032.1:p.Val21353Phe
XM_011511731.1:c.63916G>T (TTN)	XP_011510033.1:p.Val21306Phe
XM_017004819.1:c.89959G>T (TTN)	XP_016860308.1:p.Val29987Phe
XM_017004820.1:c.85357G>T (TTN)	XP_016860309.1:p.Val28453Phe
XM_017004821.1:c.85354G>T (TTN)	XP_016860310.1:p.Val28452Phe
XM_017004822.1:c.82396G>T (TTN)	XP_016860311.1:p.Val27466Phe
XM_017004823.1:c.64012G>T (TTN)	XP_016860312.1:p.Val21338Phe
XM_024453094.1:c.85507G>T (TTN)	XP_024308862.1:p.Val28503Phe
XM_024453095.1:c.85504G>T (TTN)	XP_024308863.1:p.Val28502Phe
XM_024453096.1:c.84937G>T (TTN)	XP_024308864.1:p.Val28313Phe
XM_024453097.1:c.82279G>T (TTN)	XP_024308865.1:p.Val27427Phe
XM_024453098.1:c.82198G>T (TTN)	XP_024308866.1:p.Val27400Phe
XM_024453099.1:c.63961G>T (TTN)	XP_024308867.1:p.Val21321Phe
XM_024453100.1:c.53815G>T (TTN)	XP_024308868.1:p.Val17939Phe