Canonical Allele Identifier: CA349621053

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435186C>A (hg19) ; chr2:g.178570459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570459C>A , CM000664.2:g.178570459C>A	GRCh38
NC_000002.11:g.179435186C>A , CM000664.1:g.179435186C>A	GRCh37
NC_000002.10:g.179143432C>A	NCBI36
NG_011618.3:g.265344G>T , LRG_391:g.265344G>T
NG_051363.1:g.52633C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67969G>T (TTN)	ENSP00000343764.6:p.Ala22657Ser
ENST00000342175.11:c.49054G>T (TTN)	ENSP00000340554.6:p.Ala16352Ser
ENST00000359218.10:c.48853G>T (TTN)	ENSP00000352154.5:p.Ala16285Ser
ENST00000342175.10:c.49054G>T (TTN)	ENSP00000340554.6:p.Ala16352Ser
ENST00000342992.10:c.67969G>T (TTN)	ENSP00000343764.6:p.Ala22657Ser
ENST00000359218.9:c.48853G>T (TTN)	ENSP00000352154.5:p.Ala16285Ser
ENST00000460472.6:c.48478G>T (TTN)	ENSP00000434586.1:p.Ala16160Ser
ENST00000589042.5:c.75673G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala25225Ser
ENST00000591111.5:c.70750G>T (TTN)	ENSP00000465570.1:p.Ala23584Ser
ENST00000615779.4:c.70750G>T (TTN)	ENSP00000483597.1:p.Ala23584Ser
NM_001256850.1:c.70750G>T (TTN)	NP_001243779.1:p.Ala23584Ser
NM_001267550.2:c.75673G>T (TTN) MANE Select	NP_001254479.2:p.Ala25225Ser
NM_003319.4:c.48478G>T (TTN)	NP_003310.4:p.Ala16160Ser
NM_133378.4:c.67969G>T (TTN)	NP_596869.4:p.Ala22657Ser
NM_133432.3:c.48853G>T (TTN)	NP_597676.3:p.Ala16285Ser
NM_133437.4:c.49054G>T (TTN)	NP_597681.4:p.Ala16352Ser
NR_038271.1:n.447-841C>A (TTN-AS1)
NR_038272.1:n.2044-12113C>A (TTN-AS1)
XM_011511729.1:c.74770G>T (TTN)	XP_011510031.1:p.Ala24924Ser
XM_011511730.1:c.48664G>T (TTN)	XP_011510032.1:p.Ala16222Ser
XM_011511731.1:c.48523G>T (TTN)	XP_011510033.1:p.Ala16175Ser
XM_017004819.1:c.74566G>T (TTN)	XP_016860308.1:p.Ala24856Ser
XM_017004820.1:c.69964G>T (TTN)	XP_016860309.1:p.Ala23322Ser
XM_017004821.1:c.69961G>T (TTN)	XP_016860310.1:p.Ala23321Ser
XM_017004822.1:c.67003G>T (TTN)	XP_016860311.1:p.Ala22335Ser
XM_017004823.1:c.48619G>T (TTN)	XP_016860312.1:p.Ala16207Ser
XM_024453094.1:c.70114G>T (TTN)	XP_024308862.1:p.Ala23372Ser
XM_024453095.1:c.70111G>T (TTN)	XP_024308863.1:p.Ala23371Ser
XM_024453096.1:c.69544G>T (TTN)	XP_024308864.1:p.Ala23182Ser
XM_024453097.1:c.66886G>T (TTN)	XP_024308865.1:p.Ala22296Ser
XM_024453098.1:c.66805G>T (TTN)	XP_024308866.1:p.Ala22269Ser
XM_024453099.1:c.48568G>T (TTN)	XP_024308867.1:p.Ala16190Ser
XM_024453100.1:c.38422G>T (TTN)	XP_024308868.1:p.Ala12808Ser