Canonical Allele Identifier: CA1986852

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 596224
• ClinVar RCV Id: RCV000731982 ; RCV002485908
• dbSNP Id: rs373484878
• ExAC: 2:179409003 C / T
• gnomAD v3: 2-178544276-C-T
• gnomAD v4: 2-178544276-C-T
• MyVariant Identifiers: chr2:g.179409003C>T (hg19) ; chr2:g.178544276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544276C>T , CM000664.2:g.178544276C>T	GRCh38
NC_000002.11:g.179409003C>T , CM000664.1:g.179409003C>T	GRCh37
NC_000002.10:g.179117249C>T	NCBI36
NG_011618.3:g.291527G>A , LRG_391:g.291527G>A
NG_051363.1:g.26450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88249G>A (TTN)	ENSP00000343764.6:p.Val29417Ile
ENST00000342175.11:c.69334G>A (TTN)	ENSP00000340554.6:p.Val23112Ile
ENST00000359218.10:c.69133G>A (TTN)	ENSP00000352154.5:p.Val23045Ile
ENST00000342175.10:c.69334G>A (TTN)	ENSP00000340554.6:p.Val23112Ile
ENST00000342992.10:c.88249G>A (TTN)	ENSP00000343764.6:p.Val29417Ile
ENST00000359218.9:c.69133G>A (TTN)	ENSP00000352154.5:p.Val23045Ile
ENST00000460472.6:c.68758G>A (TTN)	ENSP00000434586.1:p.Val22920Ile
ENST00000589042.5:c.95953G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31985Ile
ENST00000591111.5:c.91030G>A (TTN)	ENSP00000465570.1:p.Val30344Ile
ENST00000615779.4:c.91030G>A (TTN)	ENSP00000483597.1:p.Val30344Ile
NM_001256850.1:c.91030G>A (TTN)	NP_001243779.1:p.Val30344Ile
NM_001267550.2:c.95953G>A (TTN) MANE Select	NP_001254479.2:p.Val31985Ile
NM_003319.4:c.68758G>A (TTN)	NP_003310.4:p.Val22920Ile
NM_133378.4:c.88249G>A (TTN)	NP_596869.4:p.Val29417Ile
NM_133432.3:c.69133G>A (TTN)	NP_597676.3:p.Val23045Ile
NM_133437.4:c.69334G>A (TTN)	NP_597681.4:p.Val23112Ile
NR_038271.1:n.446+20640C>T (TTN-AS1)
NR_038272.1:n.2043+1915C>T (TTN-AS1)
XM_011511729.1:c.95050G>A (TTN)	XP_011510031.1:p.Val31684Ile
XM_011511730.1:c.68944G>A (TTN)	XP_011510032.1:p.Val22982Ile
XM_011511731.1:c.68803G>A (TTN)	XP_011510033.1:p.Val22935Ile
XM_017004819.1:c.94846G>A (TTN)	XP_016860308.1:p.Val31616Ile
XM_017004820.1:c.90244G>A (TTN)	XP_016860309.1:p.Val30082Ile
XM_017004821.1:c.90241G>A (TTN)	XP_016860310.1:p.Val30081Ile
XM_017004822.1:c.87283G>A (TTN)	XP_016860311.1:p.Val29095Ile
XM_017004823.1:c.68899G>A (TTN)	XP_016860312.1:p.Val22967Ile
XM_024453094.1:c.90394G>A (TTN)	XP_024308862.1:p.Val30132Ile
XM_024453095.1:c.90391G>A (TTN)	XP_024308863.1:p.Val30131Ile
XM_024453096.1:c.89824G>A (TTN)	XP_024308864.1:p.Val29942Ile
XM_024453097.1:c.87166G>A (TTN)	XP_024308865.1:p.Val29056Ile
XM_024453098.1:c.87085G>A (TTN)	XP_024308866.1:p.Val29029Ile
XM_024453099.1:c.68848G>A (TTN)	XP_024308867.1:p.Val22950Ile
XM_024453100.1:c.58702G>A (TTN)	XP_024308868.1:p.Val19568Ile