Canonical Allele Identifier: CA349544084

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559739-C-A
• MyVariant Identifiers: chr2:g.179424466C>A (hg19) ; chr2:g.178559739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559739C>A , CM000664.2:g.178559739C>A	GRCh38
NC_000002.11:g.179424466C>A , CM000664.1:g.179424466C>A	GRCh37
NC_000002.10:g.179132712C>A	NCBI36
NG_011618.3:g.276064G>T , LRG_391:g.276064G>T
NG_051363.1:g.41913C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78689G>T (TTN)	ENSP00000343764.6:p.Arg26230Ile
ENST00000342175.11:c.59774G>T (TTN)	ENSP00000340554.6:p.Arg19925Ile
ENST00000359218.10:c.59573G>T (TTN)	ENSP00000352154.5:p.Arg19858Ile
ENST00000342175.10:c.59774G>T (TTN)	ENSP00000340554.6:p.Arg19925Ile
ENST00000342992.10:c.78689G>T (TTN)	ENSP00000343764.6:p.Arg26230Ile
ENST00000359218.9:c.59573G>T (TTN)	ENSP00000352154.5:p.Arg19858Ile
ENST00000460472.6:c.59198G>T (TTN)	ENSP00000434586.1:p.Arg19733Ile
ENST00000589042.5:c.86393G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg28798Ile
ENST00000591111.5:c.81470G>T (TTN)	ENSP00000465570.1:p.Arg27157Ile
ENST00000615779.4:c.81470G>T (TTN)	ENSP00000483597.1:p.Arg27157Ile
NM_001256850.1:c.81470G>T (TTN)	NP_001243779.1:p.Arg27157Ile
NM_001267550.2:c.86393G>T (TTN) MANE Select	NP_001254479.2:p.Arg28798Ile
NM_003319.4:c.59198G>T (TTN)	NP_003310.4:p.Arg19733Ile
NM_133378.4:c.78689G>T (TTN)	NP_596869.4:p.Arg26230Ile
NM_133432.3:c.59573G>T (TTN)	NP_597676.3:p.Arg19858Ile
NM_133437.4:c.59774G>T (TTN)	NP_597681.4:p.Arg19925Ile
NR_038271.1:n.447-11561C>A (TTN-AS1)
NR_038272.1:n.2043+17378C>A (TTN-AS1)
XM_011511729.1:c.85490G>T (TTN)	XP_011510031.1:p.Arg28497Ile
XM_011511730.1:c.59384G>T (TTN)	XP_011510032.1:p.Arg19795Ile
XM_011511731.1:c.59243G>T (TTN)	XP_011510033.1:p.Arg19748Ile
XM_017004819.1:c.85286G>T (TTN)	XP_016860308.1:p.Arg28429Ile
XM_017004820.1:c.80684G>T (TTN)	XP_016860309.1:p.Arg26895Ile
XM_017004821.1:c.80681G>T (TTN)	XP_016860310.1:p.Arg26894Ile
XM_017004822.1:c.77723G>T (TTN)	XP_016860311.1:p.Arg25908Ile
XM_017004823.1:c.59339G>T (TTN)	XP_016860312.1:p.Arg19780Ile
XM_024453094.1:c.80834G>T (TTN)	XP_024308862.1:p.Arg26945Ile
XM_024453095.1:c.80831G>T (TTN)	XP_024308863.1:p.Arg26944Ile
XM_024453096.1:c.80264G>T (TTN)	XP_024308864.1:p.Arg26755Ile
XM_024453097.1:c.77606G>T (TTN)	XP_024308865.1:p.Arg25869Ile
XM_024453098.1:c.77525G>T (TTN)	XP_024308866.1:p.Arg25842Ile
XM_024453099.1:c.59288G>T (TTN)	XP_024308867.1:p.Arg19763Ile
XM_024453100.1:c.49142G>T (TTN)	XP_024308868.1:p.Arg16381Ile