Canonical Allele Identifier: CA60977137

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1175069
• ClinVar RCV Id: RCV001529828
• dbSNP Id: rs796635140
• MyVariant Identifiers: chr2:g.179416475A>T (hg19) ; chr2:g.178551748A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551748A>T , CM000664.2:g.178551748A>T	GRCh38
NC_000002.11:g.179416475A>T , CM000664.1:g.179416475A>T	GRCh37
NC_000002.10:g.179124721A>T	NCBI36
NG_011618.3:g.284055T>A , LRG_391:g.284055T>A
NG_051363.1:g.33922A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83448T>A (TTN)	ENSP00000343764.6:p.Tyr27816Ter
ENST00000342175.11:c.64533T>A (TTN)	ENSP00000340554.6:p.Tyr21511Ter
ENST00000359218.10:c.64332T>A (TTN)	ENSP00000352154.5:p.Tyr21444Ter
ENST00000342175.10:c.64533T>A (TTN)	ENSP00000340554.6:p.Tyr21511Ter
ENST00000342992.10:c.83448T>A (TTN)	ENSP00000343764.6:p.Tyr27816Ter
ENST00000359218.9:c.64332T>A (TTN)	ENSP00000352154.5:p.Tyr21444Ter
ENST00000460472.6:c.63957T>A (TTN)	ENSP00000434586.1:p.Tyr21319Ter
ENST00000589042.5:c.91152T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr30384Ter
ENST00000591111.5:c.86229T>A (TTN)	ENSP00000465570.1:p.Tyr28743Ter
ENST00000615779.4:c.86229T>A (TTN)	ENSP00000483597.1:p.Tyr28743Ter
NM_001256850.1:c.86229T>A (TTN)	NP_001243779.1:p.Tyr28743Ter
NM_001267550.2:c.91152T>A (TTN) MANE Select	NP_001254479.2:p.Tyr30384Ter
NM_003319.4:c.63957T>A (TTN)	NP_003310.4:p.Tyr21319Ter
NM_133378.4:c.83448T>A (TTN)	NP_596869.4:p.Tyr27816Ter
NM_133432.3:c.64332T>A (TTN)	NP_597676.3:p.Tyr21444Ter
NM_133437.4:c.64533T>A (TTN)	NP_597681.4:p.Tyr21511Ter
NR_038271.1:n.447-19552A>T (TTN-AS1)
NR_038272.1:n.2043+9387A>T (TTN-AS1)
XM_011511729.1:c.90249T>A (TTN)	XP_011510031.1:p.Tyr30083Ter
XM_011511730.1:c.64143T>A (TTN)	XP_011510032.1:p.Tyr21381Ter
XM_011511731.1:c.64002T>A (TTN)	XP_011510033.1:p.Tyr21334Ter
XM_017004819.1:c.90045T>A (TTN)	XP_016860308.1:p.Tyr30015Ter
XM_017004820.1:c.85443T>A (TTN)	XP_016860309.1:p.Tyr28481Ter
XM_017004821.1:c.85440T>A (TTN)	XP_016860310.1:p.Tyr28480Ter
XM_017004822.1:c.82482T>A (TTN)	XP_016860311.1:p.Tyr27494Ter
XM_017004823.1:c.64098T>A (TTN)	XP_016860312.1:p.Tyr21366Ter
XM_024453094.1:c.85593T>A (TTN)	XP_024308862.1:p.Tyr28531Ter
XM_024453095.1:c.85590T>A (TTN)	XP_024308863.1:p.Tyr28530Ter
XM_024453096.1:c.85023T>A (TTN)	XP_024308864.1:p.Tyr28341Ter
XM_024453097.1:c.82365T>A (TTN)	XP_024308865.1:p.Tyr27455Ter
XM_024453098.1:c.82284T>A (TTN)	XP_024308866.1:p.Tyr27428Ter
XM_024453099.1:c.64047T>A (TTN)	XP_024308867.1:p.Tyr21349Ter
XM_024453100.1:c.53901T>A (TTN)	XP_024308868.1:p.Tyr17967Ter