Canonical Allele Identifier: CA1985113

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs773250184
• ExAC: 2:179394836 G / A
• gnomAD v2: 2-179394836-G-A
• gnomAD v4: 2-178530109-G-A
• MyVariant Identifiers: chr2:g.179394836G>A (hg19) ; chr2:g.178530109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530109G>A , CM000664.2:g.178530109G>A	GRCh38
NC_000002.11:g.179394836G>A , CM000664.1:g.179394836G>A	GRCh37
NC_000002.10:g.179103082G>A	NCBI36
NG_011618.3:g.305694C>T , LRG_391:g.305694C>T
NG_051363.1:g.12283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98678C>T (TTN)	ENSP00000343764.6:p.Thr32893Ile
ENST00000342175.11:c.79763C>T (TTN)	ENSP00000340554.6:p.Thr26588Ile
ENST00000359218.10:c.79562C>T (TTN)	ENSP00000352154.5:p.Thr26521Ile
ENST00000342175.10:c.79763C>T (TTN)	ENSP00000340554.6:p.Thr26588Ile
ENST00000342992.10:c.98678C>T (TTN)	ENSP00000343764.6:p.Thr32893Ile
ENST00000359218.9:c.79562C>T (TTN)	ENSP00000352154.5:p.Thr26521Ile
ENST00000460472.6:c.79187C>T (TTN)	ENSP00000434586.1:p.Thr26396Ile
ENST00000589042.5:c.106382C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35461Ile
ENST00000591111.5:c.101459C>T (TTN)	ENSP00000465570.1:p.Thr33820Ile
ENST00000615779.4:c.101459C>T (TTN)	ENSP00000483597.1:p.Thr33820Ile
NM_001256850.1:c.101459C>T (TTN)	NP_001243779.1:p.Thr33820Ile
NM_001267550.2:c.106382C>T (TTN) MANE Select	NP_001254479.2:p.Thr35461Ile
NM_003319.4:c.79187C>T (TTN)	NP_003310.4:p.Thr26396Ile
NM_133378.4:c.98678C>T (TTN)	NP_596869.4:p.Thr32893Ile
NM_133432.3:c.79562C>T (TTN)	NP_597676.3:p.Thr26521Ile
NM_133437.4:c.79763C>T (TTN)	NP_597681.4:p.Thr26588Ile
NR_038271.1:n.446+6473G>A (TTN-AS1)
NR_038272.1:n.220-5623G>A (TTN-AS1)
XM_011511729.1:c.105479C>T (TTN)	XP_011510031.1:p.Thr35160Ile
XM_011511730.1:c.79373C>T (TTN)	XP_011510032.1:p.Thr26458Ile
XM_011511731.1:c.79232C>T (TTN)	XP_011510033.1:p.Thr26411Ile
XM_017004819.1:c.105275C>T (TTN)	XP_016860308.1:p.Thr35092Ile
XM_017004820.1:c.100673C>T (TTN)	XP_016860309.1:p.Thr33558Ile
XM_017004821.1:c.100670C>T (TTN)	XP_016860310.1:p.Thr33557Ile
XM_017004822.1:c.97712C>T (TTN)	XP_016860311.1:p.Thr32571Ile
XM_017004823.1:c.79328C>T (TTN)	XP_016860312.1:p.Thr26443Ile
XM_024453094.1:c.100823C>T (TTN)	XP_024308862.1:p.Thr33608Ile
XM_024453095.1:c.100820C>T (TTN)	XP_024308863.1:p.Thr33607Ile
XM_024453096.1:c.100253C>T (TTN)	XP_024308864.1:p.Thr33418Ile
XM_024453097.1:c.97595C>T (TTN)	XP_024308865.1:p.Thr32532Ile
XM_024453098.1:c.97514C>T (TTN)	XP_024308866.1:p.Thr32505Ile
XM_024453099.1:c.79277C>T (TTN)	XP_024308867.1:p.Thr26426Ile
XM_024453100.1:c.69131C>T (TTN)	XP_024308868.1:p.Thr23044Ile