Canonical Allele Identifier: CA349425404

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178536170-A-G
• MyVariant Identifiers: chr2:g.179400897A>G (hg19) ; chr2:g.178536170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536170A>G , CM000664.2:g.178536170A>G	GRCh38
NC_000002.11:g.179400897A>G , CM000664.1:g.179400897A>G	GRCh37
NC_000002.10:g.179109143A>G	NCBI36
NG_011618.3:g.299633T>C , LRG_391:g.299633T>C
NG_051363.1:g.18344A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92873T>C (TTN)	ENSP00000343764.6:p.Ile30958Thr
ENST00000342175.11:c.73958T>C (TTN)	ENSP00000340554.6:p.Ile24653Thr
ENST00000359218.10:c.73757T>C (TTN)	ENSP00000352154.5:p.Ile24586Thr
ENST00000342175.10:c.73958T>C (TTN)	ENSP00000340554.6:p.Ile24653Thr
ENST00000342992.10:c.92873T>C (TTN)	ENSP00000343764.6:p.Ile30958Thr
ENST00000359218.9:c.73757T>C (TTN)	ENSP00000352154.5:p.Ile24586Thr
ENST00000460472.6:c.73382T>C (TTN)	ENSP00000434586.1:p.Ile24461Thr
ENST00000589042.5:c.100577T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile33526Thr
ENST00000591111.5:c.95654T>C (TTN)	ENSP00000465570.1:p.Ile31885Thr
ENST00000615779.4:c.95654T>C (TTN)	ENSP00000483597.1:p.Ile31885Thr
NM_001256850.1:c.95654T>C (TTN)	NP_001243779.1:p.Ile31885Thr
NM_001267550.2:c.100577T>C (TTN) MANE Select	NP_001254479.2:p.Ile33526Thr
NM_003319.4:c.73382T>C (TTN)	NP_003310.4:p.Ile24461Thr
NM_133378.4:c.92873T>C (TTN)	NP_596869.4:p.Ile30958Thr
NM_133432.3:c.73757T>C (TTN)	NP_597676.3:p.Ile24586Thr
NM_133437.4:c.73958T>C (TTN)	NP_597681.4:p.Ile24653Thr
NR_038271.1:n.446+12534A>G (TTN-AS1)
NR_038272.1:n.316+342A>G (TTN-AS1)
XM_011511729.1:c.99674T>C (TTN)	XP_011510031.1:p.Ile33225Thr
XM_011511730.1:c.73568T>C (TTN)	XP_011510032.1:p.Ile24523Thr
XM_011511731.1:c.73427T>C (TTN)	XP_011510033.1:p.Ile24476Thr
XM_017004819.1:c.99470T>C (TTN)	XP_016860308.1:p.Ile33157Thr
XM_017004820.1:c.94868T>C (TTN)	XP_016860309.1:p.Ile31623Thr
XM_017004821.1:c.94865T>C (TTN)	XP_016860310.1:p.Ile31622Thr
XM_017004822.1:c.91907T>C (TTN)	XP_016860311.1:p.Ile30636Thr
XM_017004823.1:c.73523T>C (TTN)	XP_016860312.1:p.Ile24508Thr
XM_024453094.1:c.95018T>C (TTN)	XP_024308862.1:p.Ile31673Thr
XM_024453095.1:c.95015T>C (TTN)	XP_024308863.1:p.Ile31672Thr
XM_024453096.1:c.94448T>C (TTN)	XP_024308864.1:p.Ile31483Thr
XM_024453097.1:c.91790T>C (TTN)	XP_024308865.1:p.Ile30597Thr
XM_024453098.1:c.91709T>C (TTN)	XP_024308866.1:p.Ile30570Thr
XM_024453099.1:c.73472T>C (TTN)	XP_024308867.1:p.Ile24491Thr
XM_024453100.1:c.63326T>C (TTN)	XP_024308868.1:p.Ile21109Thr