Canonical Allele Identifier: CA349413691

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 499641
• ClinVar RCV Id: RCV000592204 ; RCV001217365 ; RCV002260514 ; RCV002395527
• dbSNP Id: rs1553490574
• gnomAD v4: 2-178532910-T-A
• MyVariant Identifiers: chr2:g.179397637T>A (hg19) ; chr2:g.178532910T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532910T>A , CM000664.2:g.178532910T>A	GRCh38
NC_000002.11:g.179397637T>A , CM000664.1:g.179397637T>A	GRCh37
NC_000002.10:g.179105883T>A	NCBI36
NG_011618.3:g.302893A>T , LRG_391:g.302893A>T
NG_051363.1:g.15084T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96001A>T (TTN)	ENSP00000343764.6:p.Lys32001Ter
ENST00000342175.11:c.77086A>T (TTN)	ENSP00000340554.6:p.Lys25696Ter
ENST00000359218.10:c.76885A>T (TTN)	ENSP00000352154.5:p.Lys25629Ter
ENST00000342175.10:c.77086A>T (TTN)	ENSP00000340554.6:p.Lys25696Ter
ENST00000342992.10:c.96001A>T (TTN)	ENSP00000343764.6:p.Lys32001Ter
ENST00000359218.9:c.76885A>T (TTN)	ENSP00000352154.5:p.Lys25629Ter
ENST00000460472.6:c.76510A>T (TTN)	ENSP00000434586.1:p.Lys25504Ter
ENST00000589042.5:c.103705A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys34569Ter
ENST00000591111.5:c.98782A>T (TTN)	ENSP00000465570.1:p.Lys32928Ter
ENST00000615779.4:c.98782A>T (TTN)	ENSP00000483597.1:p.Lys32928Ter
NM_001256850.1:c.98782A>T (TTN)	NP_001243779.1:p.Lys32928Ter
NM_001267550.2:c.103705A>T (TTN) MANE Select	NP_001254479.2:p.Lys34569Ter
NM_003319.4:c.76510A>T (TTN)	NP_003310.4:p.Lys25504Ter
NM_133378.4:c.96001A>T (TTN)	NP_596869.4:p.Lys32001Ter
NM_133432.3:c.76885A>T (TTN)	NP_597676.3:p.Lys25629Ter
NM_133437.4:c.77086A>T (TTN)	NP_597681.4:p.Lys25696Ter
NR_038271.1:n.446+9274T>A (TTN-AS1)
NR_038272.1:n.220-2822T>A (TTN-AS1)
XM_011511729.1:c.102802A>T (TTN)	XP_011510031.1:p.Lys34268Ter
XM_011511730.1:c.76696A>T (TTN)	XP_011510032.1:p.Lys25566Ter
XM_011511731.1:c.76555A>T (TTN)	XP_011510033.1:p.Lys25519Ter
XM_017004819.1:c.102598A>T (TTN)	XP_016860308.1:p.Lys34200Ter
XM_017004820.1:c.97996A>T (TTN)	XP_016860309.1:p.Lys32666Ter
XM_017004821.1:c.97993A>T (TTN)	XP_016860310.1:p.Lys32665Ter
XM_017004822.1:c.95035A>T (TTN)	XP_016860311.1:p.Lys31679Ter
XM_017004823.1:c.76651A>T (TTN)	XP_016860312.1:p.Lys25551Ter
XM_024453094.1:c.98146A>T (TTN)	XP_024308862.1:p.Lys32716Ter
XM_024453095.1:c.98143A>T (TTN)	XP_024308863.1:p.Lys32715Ter
XM_024453096.1:c.97576A>T (TTN)	XP_024308864.1:p.Lys32526Ter
XM_024453097.1:c.94918A>T (TTN)	XP_024308865.1:p.Lys31640Ter
XM_024453098.1:c.94837A>T (TTN)	XP_024308866.1:p.Lys31613Ter
XM_024453099.1:c.76600A>T (TTN)	XP_024308867.1:p.Lys25534Ter
XM_024453100.1:c.66454A>T (TTN)	XP_024308868.1:p.Lys22152Ter