Canonical Allele Identifier: CA349535632

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557806-G-A
• MyVariant Identifiers: chr2:g.179422533G>A (hg19) ; chr2:g.178557806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557806G>A , CM000664.2:g.178557806G>A	GRCh38
NC_000002.11:g.179422533G>A , CM000664.1:g.179422533G>A	GRCh37
NC_000002.10:g.179130779G>A	NCBI36
NG_011618.3:g.277997C>T , LRG_391:g.277997C>T
NG_051363.1:g.39980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79844C>T (TTN)	ENSP00000343764.6:p.Ala26615Val
ENST00000342175.11:c.60929C>T (TTN)	ENSP00000340554.6:p.Ala20310Val
ENST00000359218.10:c.60728C>T (TTN)	ENSP00000352154.5:p.Ala20243Val
ENST00000342175.10:c.60929C>T (TTN)	ENSP00000340554.6:p.Ala20310Val
ENST00000342992.10:c.79844C>T (TTN)	ENSP00000343764.6:p.Ala26615Val
ENST00000359218.9:c.60728C>T (TTN)	ENSP00000352154.5:p.Ala20243Val
ENST00000460472.6:c.60353C>T (TTN)	ENSP00000434586.1:p.Ala20118Val
ENST00000589042.5:c.87548C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala29183Val
ENST00000591111.5:c.82625C>T (TTN)	ENSP00000465570.1:p.Ala27542Val
ENST00000615779.4:c.82625C>T (TTN)	ENSP00000483597.1:p.Ala27542Val
NM_001256850.1:c.82625C>T (TTN)	NP_001243779.1:p.Ala27542Val
NM_001267550.2:c.87548C>T (TTN) MANE Select	NP_001254479.2:p.Ala29183Val
NM_003319.4:c.60353C>T (TTN)	NP_003310.4:p.Ala20118Val
NM_133378.4:c.79844C>T (TTN)	NP_596869.4:p.Ala26615Val
NM_133432.3:c.60728C>T (TTN)	NP_597676.3:p.Ala20243Val
NM_133437.4:c.60929C>T (TTN)	NP_597681.4:p.Ala20310Val
NR_038271.1:n.447-13494G>A (TTN-AS1)
NR_038272.1:n.2043+15445G>A (TTN-AS1)
XM_011511729.1:c.86645C>T (TTN)	XP_011510031.1:p.Ala28882Val
XM_011511730.1:c.60539C>T (TTN)	XP_011510032.1:p.Ala20180Val
XM_011511731.1:c.60398C>T (TTN)	XP_011510033.1:p.Ala20133Val
XM_017004819.1:c.86441C>T (TTN)	XP_016860308.1:p.Ala28814Val
XM_017004820.1:c.81839C>T (TTN)	XP_016860309.1:p.Ala27280Val
XM_017004821.1:c.81836C>T (TTN)	XP_016860310.1:p.Ala27279Val
XM_017004822.1:c.78878C>T (TTN)	XP_016860311.1:p.Ala26293Val
XM_017004823.1:c.60494C>T (TTN)	XP_016860312.1:p.Ala20165Val
XM_024453094.1:c.81989C>T (TTN)	XP_024308862.1:p.Ala27330Val
XM_024453095.1:c.81986C>T (TTN)	XP_024308863.1:p.Ala27329Val
XM_024453096.1:c.81419C>T (TTN)	XP_024308864.1:p.Ala27140Val
XM_024453097.1:c.78761C>T (TTN)	XP_024308865.1:p.Ala26254Val
XM_024453098.1:c.78680C>T (TTN)	XP_024308866.1:p.Ala26227Val
XM_024453099.1:c.60443C>T (TTN)	XP_024308867.1:p.Ala20148Val
XM_024453100.1:c.50297C>T (TTN)	XP_024308868.1:p.Ala16766Val