Canonical Allele Identifier: CA349436139

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449418C>A (hg19) ; chr2:g.178584691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584691C>A , CM000664.2:g.178584691C>A	GRCh38
NC_000002.11:g.179449418C>A , CM000664.1:g.179449418C>A	GRCh37
NC_000002.10:g.179157664C>A	NCBI36
NG_011618.3:g.251112G>T , LRG_391:g.251112G>T
NG_051363.1:g.66865C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57246G>T (TTN)	ENSP00000343764.6:p.Lys19082Asn
ENST00000342175.11:c.38331G>T (TTN)	ENSP00000340554.6:p.Lys12777Asn
ENST00000359218.10:c.38130G>T (TTN)	ENSP00000352154.5:p.Lys12710Asn
ENST00000342175.10:c.38331G>T (TTN)	ENSP00000340554.6:p.Lys12777Asn
ENST00000342992.10:c.57246G>T (TTN)	ENSP00000343764.6:p.Lys19082Asn
ENST00000359218.9:c.38130G>T (TTN)	ENSP00000352154.5:p.Lys12710Asn
ENST00000460472.6:c.37755G>T (TTN)	ENSP00000434586.1:p.Lys12585Asn
ENST00000589042.5:c.64950G>T (TTN) MANE Select	ENSP00000467141.1:p.Lys21650Asn
ENST00000591111.5:c.60027G>T (TTN)	ENSP00000465570.1:p.Lys20009Asn
ENST00000615779.4:c.60027G>T (TTN)	ENSP00000483597.1:p.Lys20009Asn
NM_001256850.1:c.60027G>T (TTN)	NP_001243779.1:p.Lys20009Asn
NM_001267550.2:c.64950G>T (TTN) MANE Select	NP_001254479.2:p.Lys21650Asn
NM_003319.4:c.37755G>T (TTN)	NP_003310.4:p.Lys12585Asn
NM_133378.4:c.57246G>T (TTN)	NP_596869.4:p.Lys19082Asn
NM_133432.3:c.38130G>T (TTN)	NP_597676.3:p.Lys12710Asn
NM_133437.4:c.38331G>T (TTN)	NP_597681.4:p.Lys12777Asn
NR_038271.1:n.597-12905C>A (TTN-AS1)
NR_038272.1:n.2886C>A (TTN-AS1)
XM_011511729.1:c.64047G>T (TTN)	XP_011510031.1:p.Lys21349Asn
XM_011511730.1:c.37941G>T (TTN)	XP_011510032.1:p.Lys12647Asn
XM_011511731.1:c.37800G>T (TTN)	XP_011510033.1:p.Lys12600Asn
XM_017004819.1:c.63843G>T (TTN)	XP_016860308.1:p.Lys21281Asn
XM_017004820.1:c.59241G>T (TTN)	XP_016860309.1:p.Lys19747Asn
XM_017004821.1:c.59238G>T (TTN)	XP_016860310.1:p.Lys19746Asn
XM_017004822.1:c.56280G>T (TTN)	XP_016860311.1:p.Lys18760Asn
XM_017004823.1:c.37896G>T (TTN)	XP_016860312.1:p.Lys12632Asn
XM_024453094.1:c.59391G>T (TTN)	XP_024308862.1:p.Lys19797Asn
XM_024453095.1:c.59388G>T (TTN)	XP_024308863.1:p.Lys19796Asn
XM_024453096.1:c.58821G>T (TTN)	XP_024308864.1:p.Lys19607Asn
XM_024453097.1:c.56163G>T (TTN)	XP_024308865.1:p.Lys18721Asn
XM_024453098.1:c.56082G>T (TTN)	XP_024308866.1:p.Lys18694Asn
XM_024453099.1:c.37845G>T (TTN)	XP_024308867.1:p.Lys12615Asn
XM_024453100.1:c.27699G>T (TTN)	XP_024308868.1:p.Lys9233Asn