Canonical Allele Identifier: CA349406187

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530306-C-T
• MyVariant Identifiers: chr2:g.179395033C>T (hg19) ; chr2:g.178530306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530306C>T , CM000664.2:g.178530306C>T	GRCh38
NC_000002.11:g.179395033C>T , CM000664.1:g.179395033C>T	GRCh37
NC_000002.10:g.179103279C>T	NCBI36
NG_011618.3:g.305497G>A , LRG_391:g.305497G>A
NG_051363.1:g.12480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98605G>A (TTN)	ENSP00000343764.6:p.Ala32869Thr
ENST00000342175.11:c.79690G>A (TTN)	ENSP00000340554.6:p.Ala26564Thr
ENST00000359218.10:c.79489G>A (TTN)	ENSP00000352154.5:p.Ala26497Thr
ENST00000342175.10:c.79690G>A (TTN)	ENSP00000340554.6:p.Ala26564Thr
ENST00000342992.10:c.98605G>A (TTN)	ENSP00000343764.6:p.Ala32869Thr
ENST00000359218.9:c.79489G>A (TTN)	ENSP00000352154.5:p.Ala26497Thr
ENST00000460472.6:c.79114G>A (TTN)	ENSP00000434586.1:p.Ala26372Thr
ENST00000589042.5:c.106309G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala35437Thr
ENST00000591111.5:c.101386G>A (TTN)	ENSP00000465570.1:p.Ala33796Thr
ENST00000615779.4:c.101386G>A (TTN)	ENSP00000483597.1:p.Ala33796Thr
NM_001256850.1:c.101386G>A (TTN)	NP_001243779.1:p.Ala33796Thr
NM_001267550.2:c.106309G>A (TTN) MANE Select	NP_001254479.2:p.Ala35437Thr
NM_003319.4:c.79114G>A (TTN)	NP_003310.4:p.Ala26372Thr
NM_133378.4:c.98605G>A (TTN)	NP_596869.4:p.Ala32869Thr
NM_133432.3:c.79489G>A (TTN)	NP_597676.3:p.Ala26497Thr
NM_133437.4:c.79690G>A (TTN)	NP_597681.4:p.Ala26564Thr
NR_038271.1:n.446+6670C>T (TTN-AS1)
NR_038272.1:n.220-5426C>T (TTN-AS1)
XM_011511729.1:c.105406G>A (TTN)	XP_011510031.1:p.Ala35136Thr
XM_011511730.1:c.79300G>A (TTN)	XP_011510032.1:p.Ala26434Thr
XM_011511731.1:c.79159G>A (TTN)	XP_011510033.1:p.Ala26387Thr
XM_017004819.1:c.105202G>A (TTN)	XP_016860308.1:p.Ala35068Thr
XM_017004820.1:c.100600G>A (TTN)	XP_016860309.1:p.Ala33534Thr
XM_017004821.1:c.100597G>A (TTN)	XP_016860310.1:p.Ala33533Thr
XM_017004822.1:c.97639G>A (TTN)	XP_016860311.1:p.Ala32547Thr
XM_017004823.1:c.79255G>A (TTN)	XP_016860312.1:p.Ala26419Thr
XM_024453094.1:c.100750G>A (TTN)	XP_024308862.1:p.Ala33584Thr
XM_024453095.1:c.100747G>A (TTN)	XP_024308863.1:p.Ala33583Thr
XM_024453096.1:c.100180G>A (TTN)	XP_024308864.1:p.Ala33394Thr
XM_024453097.1:c.97522G>A (TTN)	XP_024308865.1:p.Ala32508Thr
XM_024453098.1:c.97441G>A (TTN)	XP_024308866.1:p.Ala32481Thr
XM_024453099.1:c.79204G>A (TTN)	XP_024308867.1:p.Ala26402Thr
XM_024453100.1:c.69058G>A (TTN)	XP_024308868.1:p.Ala23020Thr