Canonical Allele Identifier: CA349422569

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535014
• ClinVar RCV Id: RCV000642769
• dbSNP Id: rs1553621179
• MyVariant Identifiers: chr2:g.179443860C>A (hg19) ; chr2:g.178579133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579133C>A , CM000664.2:g.178579133C>A	GRCh38
NC_000002.11:g.179443860C>A , CM000664.1:g.179443860C>A	GRCh37
NC_000002.10:g.179152106C>A	NCBI36
NG_011618.3:g.256670G>T , LRG_391:g.256670G>T
NG_051363.1:g.61307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60193G>T (TTN)	ENSP00000343764.6:p.Glu20065Ter
ENST00000342175.11:c.41278G>T (TTN)	ENSP00000340554.6:p.Glu13760Ter
ENST00000359218.10:c.41077G>T (TTN)	ENSP00000352154.5:p.Glu13693Ter
ENST00000342175.10:c.41278G>T (TTN)	ENSP00000340554.6:p.Glu13760Ter
ENST00000342992.10:c.60193G>T (TTN)	ENSP00000343764.6:p.Glu20065Ter
ENST00000359218.9:c.41077G>T (TTN)	ENSP00000352154.5:p.Glu13693Ter
ENST00000460472.6:c.40702G>T (TTN)	ENSP00000434586.1:p.Glu13568Ter
ENST00000589042.5:c.67897G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu22633Ter
ENST00000591111.5:c.62974G>T (TTN)	ENSP00000465570.1:p.Glu20992Ter
ENST00000615779.4:c.62974G>T (TTN)	ENSP00000483597.1:p.Glu20992Ter
NM_001256850.1:c.62974G>T (TTN)	NP_001243779.1:p.Glu20992Ter
NM_001267550.2:c.67897G>T (TTN) MANE Select	NP_001254479.2:p.Glu22633Ter
NM_003319.4:c.40702G>T (TTN)	NP_003310.4:p.Glu13568Ter
NM_133378.4:c.60193G>T (TTN)	NP_596869.4:p.Glu20065Ter
NM_133432.3:c.41077G>T (TTN)	NP_597676.3:p.Glu13693Ter
NM_133437.4:c.41278G>T (TTN)	NP_597681.4:p.Glu13760Ter
NR_038271.1:n.596+7684C>A (TTN-AS1)
NR_038272.1:n.2044-3439C>A (TTN-AS1)
XM_011511729.1:c.66994G>T (TTN)	XP_011510031.1:p.Glu22332Ter
XM_011511730.1:c.40888G>T (TTN)	XP_011510032.1:p.Glu13630Ter
XM_011511731.1:c.40747G>T (TTN)	XP_011510033.1:p.Glu13583Ter
XM_017004819.1:c.66790G>T (TTN)	XP_016860308.1:p.Glu22264Ter
XM_017004820.1:c.62188G>T (TTN)	XP_016860309.1:p.Glu20730Ter
XM_017004821.1:c.62185G>T (TTN)	XP_016860310.1:p.Glu20729Ter
XM_017004822.1:c.59227G>T (TTN)	XP_016860311.1:p.Glu19743Ter
XM_017004823.1:c.40843G>T (TTN)	XP_016860312.1:p.Glu13615Ter
XM_024453094.1:c.62338G>T (TTN)	XP_024308862.1:p.Glu20780Ter
XM_024453095.1:c.62335G>T (TTN)	XP_024308863.1:p.Glu20779Ter
XM_024453096.1:c.61768G>T (TTN)	XP_024308864.1:p.Glu20590Ter
XM_024453097.1:c.59110G>T (TTN)	XP_024308865.1:p.Glu19704Ter
XM_024453098.1:c.59029G>T (TTN)	XP_024308866.1:p.Glu19677Ter
XM_024453099.1:c.40792G>T (TTN)	XP_024308867.1:p.Glu13598Ter
XM_024453100.1:c.30646G>T (TTN)	XP_024308868.1:p.Glu10216Ter