Canonical Allele Identifier: CA349436060

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449401G>A (hg19) ; chr2:g.178584674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584674G>A , CM000664.2:g.178584674G>A	GRCh38
NC_000002.11:g.179449401G>A , CM000664.1:g.179449401G>A	GRCh37
NC_000002.10:g.179157647G>A	NCBI36
NG_011618.3:g.251129C>T , LRG_391:g.251129C>T
NG_051363.1:g.66848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57263C>T (TTN)	ENSP00000343764.6:p.Pro19088Leu
ENST00000342175.11:c.38348C>T (TTN)	ENSP00000340554.6:p.Pro12783Leu
ENST00000359218.10:c.38147C>T (TTN)	ENSP00000352154.5:p.Pro12716Leu
ENST00000342175.10:c.38348C>T (TTN)	ENSP00000340554.6:p.Pro12783Leu
ENST00000342992.10:c.57263C>T (TTN)	ENSP00000343764.6:p.Pro19088Leu
ENST00000359218.9:c.38147C>T (TTN)	ENSP00000352154.5:p.Pro12716Leu
ENST00000460472.6:c.37772C>T (TTN)	ENSP00000434586.1:p.Pro12591Leu
ENST00000589042.5:c.64967C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro21656Leu
ENST00000591111.5:c.60044C>T (TTN)	ENSP00000465570.1:p.Pro20015Leu
ENST00000615779.4:c.60044C>T (TTN)	ENSP00000483597.1:p.Pro20015Leu
NM_001256850.1:c.60044C>T (TTN)	NP_001243779.1:p.Pro20015Leu
NM_001267550.2:c.64967C>T (TTN) MANE Select	NP_001254479.2:p.Pro21656Leu
NM_003319.4:c.37772C>T (TTN)	NP_003310.4:p.Pro12591Leu
NM_133378.4:c.57263C>T (TTN)	NP_596869.4:p.Pro19088Leu
NM_133432.3:c.38147C>T (TTN)	NP_597676.3:p.Pro12716Leu
NM_133437.4:c.38348C>T (TTN)	NP_597681.4:p.Pro12783Leu
NR_038271.1:n.597-12922G>A (TTN-AS1)
NR_038272.1:n.2869G>A (TTN-AS1)
XM_011511729.1:c.64064C>T (TTN)	XP_011510031.1:p.Pro21355Leu
XM_011511730.1:c.37958C>T (TTN)	XP_011510032.1:p.Pro12653Leu
XM_011511731.1:c.37817C>T (TTN)	XP_011510033.1:p.Pro12606Leu
XM_017004819.1:c.63860C>T (TTN)	XP_016860308.1:p.Pro21287Leu
XM_017004820.1:c.59258C>T (TTN)	XP_016860309.1:p.Pro19753Leu
XM_017004821.1:c.59255C>T (TTN)	XP_016860310.1:p.Pro19752Leu
XM_017004822.1:c.56297C>T (TTN)	XP_016860311.1:p.Pro18766Leu
XM_017004823.1:c.37913C>T (TTN)	XP_016860312.1:p.Pro12638Leu
XM_024453094.1:c.59408C>T (TTN)	XP_024308862.1:p.Pro19803Leu
XM_024453095.1:c.59405C>T (TTN)	XP_024308863.1:p.Pro19802Leu
XM_024453096.1:c.58838C>T (TTN)	XP_024308864.1:p.Pro19613Leu
XM_024453097.1:c.56180C>T (TTN)	XP_024308865.1:p.Pro18727Leu
XM_024453098.1:c.56099C>T (TTN)	XP_024308866.1:p.Pro18700Leu
XM_024453099.1:c.37862C>T (TTN)	XP_024308867.1:p.Pro12621Leu
XM_024453100.1:c.27716C>T (TTN)	XP_024308868.1:p.Pro9239Leu