Canonical Allele Identifier: CA261868

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47012
• ClinVar RCV Id: RCV000040282 ; RCV001852832
• dbSNP Id: rs397517589
• MyVariant Identifiers: chr2:g.179482572G>A (hg19) ; chr2:g.178617845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178617845G>A , CM000664.2:g.178617845G>A	GRCh38
NC_000002.11:g.179482572G>A , CM000664.1:g.179482572G>A	GRCh37
NC_000002.10:g.179190817G>A	NCBI36
NG_011618.3:g.217958C>T , LRG_391:g.217958C>T
NG_051363.1:g.100019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39802C>T (TTN)	ENSP00000343764.6:p.Gln13268Ter
ENST00000342175.11:c.20887C>T (TTN)	ENSP00000340554.6:p.Gln6963Ter
ENST00000359218.10:c.20686C>T (TTN)	ENSP00000352154.5:p.Gln6896Ter
ENST00000342175.10:c.20887C>T (TTN)	ENSP00000340554.6:p.Gln6963Ter
ENST00000342992.10:c.39802C>T (TTN)	ENSP00000343764.6:p.Gln13268Ter
ENST00000359218.9:c.20686C>T (TTN)	ENSP00000352154.5:p.Gln6896Ter
ENST00000460472.6:c.20311C>T (TTN)	ENSP00000434586.1:p.Gln6771Ter
ENST00000589042.5:c.47506C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln15836Ter
ENST00000591111.5:c.42583C>T (TTN)	ENSP00000465570.1:p.Gln14195Ter
ENST00000615779.4:c.42583C>T (TTN)	ENSP00000483597.1:p.Gln14195Ter
NM_001256850.1:c.42583C>T (TTN)	NP_001243779.1:p.Gln14195Ter
NM_001267550.2:c.47506C>T (TTN) MANE Select	NP_001254479.2:p.Gln15836Ter
NM_003319.4:c.20311C>T (TTN)	NP_003310.4:p.Gln6771Ter
NM_133378.4:c.39802C>T (TTN)	NP_596869.4:p.Gln13268Ter
NM_133432.3:c.20686C>T (TTN)	NP_597676.3:p.Gln6896Ter
NM_133437.4:c.20887C>T (TTN)	NP_597681.4:p.Gln6963Ter
NR_038271.1:n.1605-1908G>A (TTN-AS1)
XM_011511729.1:c.46603C>T (TTN)	XP_011510031.1:p.Gln15535Ter
XM_011511730.1:c.20497C>T (TTN)	XP_011510032.1:p.Gln6833Ter
XM_011511731.1:c.20356C>T (TTN)	XP_011510033.1:p.Gln6786Ter
XM_017004819.1:c.46399C>T (TTN)	XP_016860308.1:p.Gln15467Ter
XM_017004820.1:c.41797C>T (TTN)	XP_016860309.1:p.Gln13933Ter
XM_017004821.1:c.41794C>T (TTN)	XP_016860310.1:p.Gln13932Ter
XM_017004822.1:c.38836C>T (TTN)	XP_016860311.1:p.Gln12946Ter
XM_017004823.1:c.20452C>T (TTN)	XP_016860312.1:p.Gln6818Ter
XM_024453094.1:c.41947C>T (TTN)	XP_024308862.1:p.Gln13983Ter
XM_024453095.1:c.41944C>T (TTN)	XP_024308863.1:p.Gln13982Ter
XM_024453096.1:c.41377C>T (TTN)	XP_024308864.1:p.Gln13793Ter
XM_024453097.1:c.38719C>T (TTN)	XP_024308865.1:p.Gln12907Ter
XM_024453098.1:c.38638C>T (TTN)	XP_024308866.1:p.Gln12880Ter
XM_024453099.1:c.20401C>T (TTN)	XP_024308867.1:p.Gln6801Ter
XM_024453100.1:c.10255C>T (TTN)	XP_024308868.1:p.Gln3419Ter