Canonical Allele Identifier: CA349407163

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs769505255
• MyVariant Identifiers: chr2:g.179395302T>A (hg19) ; chr2:g.178530575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530575T>A , CM000664.2:g.178530575T>A	GRCh38
NC_000002.11:g.179395302T>A , CM000664.1:g.179395302T>A	GRCh37
NC_000002.10:g.179103548T>A	NCBI36
NG_011618.3:g.305228A>T , LRG_391:g.305228A>T
NG_051363.1:g.12749T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98336A>T (TTN)	ENSP00000343764.6:p.Asn32779Ile
ENST00000342175.11:c.79421A>T (TTN)	ENSP00000340554.6:p.Asn26474Ile
ENST00000359218.10:c.79220A>T (TTN)	ENSP00000352154.5:p.Asn26407Ile
ENST00000342175.10:c.79421A>T (TTN)	ENSP00000340554.6:p.Asn26474Ile
ENST00000342992.10:c.98336A>T (TTN)	ENSP00000343764.6:p.Asn32779Ile
ENST00000359218.9:c.79220A>T (TTN)	ENSP00000352154.5:p.Asn26407Ile
ENST00000460472.6:c.78845A>T (TTN)	ENSP00000434586.1:p.Asn26282Ile
ENST00000589042.5:c.106040A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn35347Ile
ENST00000591111.5:c.101117A>T (TTN)	ENSP00000465570.1:p.Asn33706Ile
ENST00000615779.4:c.101117A>T (TTN)	ENSP00000483597.1:p.Asn33706Ile
NM_001256850.1:c.101117A>T (TTN)	NP_001243779.1:p.Asn33706Ile
NM_001267550.2:c.106040A>T (TTN) MANE Select	NP_001254479.2:p.Asn35347Ile
NM_003319.4:c.78845A>T (TTN)	NP_003310.4:p.Asn26282Ile
NM_133378.4:c.98336A>T (TTN)	NP_596869.4:p.Asn32779Ile
NM_133432.3:c.79220A>T (TTN)	NP_597676.3:p.Asn26407Ile
NM_133437.4:c.79421A>T (TTN)	NP_597681.4:p.Asn26474Ile
NR_038271.1:n.446+6939T>A (TTN-AS1)
NR_038272.1:n.220-5157T>A (TTN-AS1)
XM_011511729.1:c.105137A>T (TTN)	XP_011510031.1:p.Asn35046Ile
XM_011511730.1:c.79031A>T (TTN)	XP_011510032.1:p.Asn26344Ile
XM_011511731.1:c.78890A>T (TTN)	XP_011510033.1:p.Asn26297Ile
XM_017004819.1:c.104933A>T (TTN)	XP_016860308.1:p.Asn34978Ile
XM_017004820.1:c.100331A>T (TTN)	XP_016860309.1:p.Asn33444Ile
XM_017004821.1:c.100328A>T (TTN)	XP_016860310.1:p.Asn33443Ile
XM_017004822.1:c.97370A>T (TTN)	XP_016860311.1:p.Asn32457Ile
XM_017004823.1:c.78986A>T (TTN)	XP_016860312.1:p.Asn26329Ile
XM_024453094.1:c.100481A>T (TTN)	XP_024308862.1:p.Asn33494Ile
XM_024453095.1:c.100478A>T (TTN)	XP_024308863.1:p.Asn33493Ile
XM_024453096.1:c.99911A>T (TTN)	XP_024308864.1:p.Asn33304Ile
XM_024453097.1:c.97253A>T (TTN)	XP_024308865.1:p.Asn32418Ile
XM_024453098.1:c.97172A>T (TTN)	XP_024308866.1:p.Asn32391Ile
XM_024453099.1:c.78935A>T (TTN)	XP_024308867.1:p.Asn26312Ile
XM_024453100.1:c.68789A>T (TTN)	XP_024308868.1:p.Asn22930Ile