Canonical Allele Identifier: CA349564217

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427033C>A (hg19) ; chr2:g.178562306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562306C>A , CM000664.2:g.178562306C>A	GRCh38
NC_000002.11:g.179427033C>A , CM000664.1:g.179427033C>A	GRCh37
NC_000002.10:g.179135279C>A	NCBI36
NG_011618.3:g.273497G>T , LRG_391:g.273497G>T
NG_051363.1:g.44480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76122G>T (TTN)	ENSP00000343764.6:p.Lys25374Asn
ENST00000342175.11:c.57207G>T (TTN)	ENSP00000340554.6:p.Lys19069Asn
ENST00000359218.10:c.57006G>T (TTN)	ENSP00000352154.5:p.Lys19002Asn
ENST00000342175.10:c.57207G>T (TTN)	ENSP00000340554.6:p.Lys19069Asn
ENST00000342992.10:c.76122G>T (TTN)	ENSP00000343764.6:p.Lys25374Asn
ENST00000359218.9:c.57006G>T (TTN)	ENSP00000352154.5:p.Lys19002Asn
ENST00000460472.6:c.56631G>T (TTN)	ENSP00000434586.1:p.Lys18877Asn
ENST00000589042.5:c.83826G>T (TTN) MANE Select	ENSP00000467141.1:p.Lys27942Asn
ENST00000591111.5:c.78903G>T (TTN)	ENSP00000465570.1:p.Lys26301Asn
ENST00000615779.4:c.78903G>T (TTN)	ENSP00000483597.1:p.Lys26301Asn
NM_001256850.1:c.78903G>T (TTN)	NP_001243779.1:p.Lys26301Asn
NM_001267550.2:c.83826G>T (TTN) MANE Select	NP_001254479.2:p.Lys27942Asn
NM_003319.4:c.56631G>T (TTN)	NP_003310.4:p.Lys18877Asn
NM_133378.4:c.76122G>T (TTN)	NP_596869.4:p.Lys25374Asn
NM_133432.3:c.57006G>T (TTN)	NP_597676.3:p.Lys19002Asn
NM_133437.4:c.57207G>T (TTN)	NP_597681.4:p.Lys19069Asn
NR_038271.1:n.447-8994C>A (TTN-AS1)
NR_038272.1:n.2043+19945C>A (TTN-AS1)
XM_011511729.1:c.82923G>T (TTN)	XP_011510031.1:p.Lys27641Asn
XM_011511730.1:c.56817G>T (TTN)	XP_011510032.1:p.Lys18939Asn
XM_011511731.1:c.56676G>T (TTN)	XP_011510033.1:p.Lys18892Asn
XM_017004819.1:c.82719G>T (TTN)	XP_016860308.1:p.Lys27573Asn
XM_017004820.1:c.78117G>T (TTN)	XP_016860309.1:p.Lys26039Asn
XM_017004821.1:c.78114G>T (TTN)	XP_016860310.1:p.Lys26038Asn
XM_017004822.1:c.75156G>T (TTN)	XP_016860311.1:p.Lys25052Asn
XM_017004823.1:c.56772G>T (TTN)	XP_016860312.1:p.Lys18924Asn
XM_024453094.1:c.78267G>T (TTN)	XP_024308862.1:p.Lys26089Asn
XM_024453095.1:c.78264G>T (TTN)	XP_024308863.1:p.Lys26088Asn
XM_024453096.1:c.77697G>T (TTN)	XP_024308864.1:p.Lys25899Asn
XM_024453097.1:c.75039G>T (TTN)	XP_024308865.1:p.Lys25013Asn
XM_024453098.1:c.74958G>T (TTN)	XP_024308866.1:p.Lys24986Asn
XM_024453099.1:c.56721G>T (TTN)	XP_024308867.1:p.Lys18907Asn
XM_024453100.1:c.46575G>T (TTN)	XP_024308868.1:p.Lys15525Asn