Canonical Allele Identifier: CA349488160

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456572T>G (hg19) ; chr2:g.178591845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591845T>G , CM000664.2:g.178591845T>G	GRCh38
NC_000002.11:g.179456572T>G , CM000664.1:g.179456572T>G	GRCh37
NC_000002.10:g.179164818T>G	NCBI36
NG_011618.3:g.243958A>C , LRG_391:g.243958A>C
NG_051363.1:g.74019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52270A>C (TTN)	ENSP00000343764.6:p.Thr17424Pro
ENST00000342175.11:c.33355A>C (TTN)	ENSP00000340554.6:p.Thr11119Pro
ENST00000359218.10:c.33154A>C (TTN)	ENSP00000352154.5:p.Thr11052Pro
ENST00000342175.10:c.33355A>C (TTN)	ENSP00000340554.6:p.Thr11119Pro
ENST00000342992.10:c.52270A>C (TTN)	ENSP00000343764.6:p.Thr17424Pro
ENST00000359218.9:c.33154A>C (TTN)	ENSP00000352154.5:p.Thr11052Pro
ENST00000460472.6:c.32779A>C (TTN)	ENSP00000434586.1:p.Thr10927Pro
ENST00000589042.5:c.59974A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr19992Pro
ENST00000591111.5:c.55051A>C (TTN)	ENSP00000465570.1:p.Thr18351Pro
ENST00000615779.4:c.55051A>C (TTN)	ENSP00000483597.1:p.Thr18351Pro
NM_001256850.1:c.55051A>C (TTN)	NP_001243779.1:p.Thr18351Pro
NM_001267550.2:c.59974A>C (TTN) MANE Select	NP_001254479.2:p.Thr19992Pro
NM_003319.4:c.32779A>C (TTN)	NP_003310.4:p.Thr10927Pro
NM_133378.4:c.52270A>C (TTN)	NP_596869.4:p.Thr17424Pro
NM_133432.3:c.33154A>C (TTN)	NP_597676.3:p.Thr11052Pro
NM_133437.4:c.33355A>C (TTN)	NP_597681.4:p.Thr11119Pro
NR_038271.1:n.597-5751T>G (TTN-AS1)
NR_038272.1:n.3364+531T>G (TTN-AS1)
XM_011511729.1:c.59071A>C (TTN)	XP_011510031.1:p.Thr19691Pro
XM_011511730.1:c.32965A>C (TTN)	XP_011510032.1:p.Thr10989Pro
XM_011511731.1:c.32824A>C (TTN)	XP_011510033.1:p.Thr10942Pro
XM_017004819.1:c.58867A>C (TTN)	XP_016860308.1:p.Thr19623Pro
XM_017004820.1:c.54265A>C (TTN)	XP_016860309.1:p.Thr18089Pro
XM_017004821.1:c.54262A>C (TTN)	XP_016860310.1:p.Thr18088Pro
XM_017004822.1:c.51304A>C (TTN)	XP_016860311.1:p.Thr17102Pro
XM_017004823.1:c.32920A>C (TTN)	XP_016860312.1:p.Thr10974Pro
XM_024453094.1:c.54415A>C (TTN)	XP_024308862.1:p.Thr18139Pro
XM_024453095.1:c.54412A>C (TTN)	XP_024308863.1:p.Thr18138Pro
XM_024453096.1:c.53845A>C (TTN)	XP_024308864.1:p.Thr17949Pro
XM_024453097.1:c.51187A>C (TTN)	XP_024308865.1:p.Thr17063Pro
XM_024453098.1:c.51106A>C (TTN)	XP_024308866.1:p.Thr17036Pro
XM_024453099.1:c.32869A>C (TTN)	XP_024308867.1:p.Thr10957Pro
XM_024453100.1:c.22723A>C (TTN)	XP_024308868.1:p.Thr7575Pro