Canonical Allele Identifier: CA60972536

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1329220
• ClinVar RCV Id: RCV001799263 ; RCV002478030
• dbSNP Id: rs140081451
• gnomAD v2: 2-179411444-C-T
• gnomAD v3: 2-178546717-C-T
• gnomAD v4: 2-178546717-C-T
• MyVariant Identifiers: chr2:g.179411444C>T (hg19) ; chr2:g.178546717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546717C>T , CM000664.2:g.178546717C>T	GRCh38
NC_000002.11:g.179411444C>T , CM000664.1:g.179411444C>T	GRCh37
NC_000002.10:g.179119690C>T	NCBI36
NG_011618.3:g.289086G>A , LRG_391:g.289086G>A
NG_051363.1:g.28891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87007G>A (TTN)	ENSP00000343764.6:p.Val29003Met
ENST00000342175.11:c.68092G>A (TTN)	ENSP00000340554.6:p.Val22698Met
ENST00000359218.10:c.67891G>A (TTN)	ENSP00000352154.5:p.Val22631Met
ENST00000342175.10:c.68092G>A (TTN)	ENSP00000340554.6:p.Val22698Met
ENST00000342992.10:c.87007G>A (TTN)	ENSP00000343764.6:p.Val29003Met
ENST00000359218.9:c.67891G>A (TTN)	ENSP00000352154.5:p.Val22631Met
ENST00000460472.6:c.67516G>A (TTN)	ENSP00000434586.1:p.Val22506Met
ENST00000589042.5:c.94711G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31571Met
ENST00000591111.5:c.89788G>A (TTN)	ENSP00000465570.1:p.Val29930Met
ENST00000615779.4:c.89788G>A (TTN)	ENSP00000483597.1:p.Val29930Met
NM_001256850.1:c.89788G>A (TTN)	NP_001243779.1:p.Val29930Met
NM_001267550.2:c.94711G>A (TTN) MANE Select	NP_001254479.2:p.Val31571Met
NM_003319.4:c.67516G>A (TTN)	NP_003310.4:p.Val22506Met
NM_133378.4:c.87007G>A (TTN)	NP_596869.4:p.Val29003Met
NM_133432.3:c.67891G>A (TTN)	NP_597676.3:p.Val22631Met
NM_133437.4:c.68092G>A (TTN)	NP_597681.4:p.Val22698Met
NR_038271.1:n.446+23081C>T (TTN-AS1)
NR_038272.1:n.2043+4356C>T (TTN-AS1)
XM_011511729.1:c.93808G>A (TTN)	XP_011510031.1:p.Val31270Met
XM_011511730.1:c.67702G>A (TTN)	XP_011510032.1:p.Val22568Met
XM_011511731.1:c.67561G>A (TTN)	XP_011510033.1:p.Val22521Met
XM_017004819.1:c.93604G>A (TTN)	XP_016860308.1:p.Val31202Met
XM_017004820.1:c.89002G>A (TTN)	XP_016860309.1:p.Val29668Met
XM_017004821.1:c.88999G>A (TTN)	XP_016860310.1:p.Val29667Met
XM_017004822.1:c.86041G>A (TTN)	XP_016860311.1:p.Val28681Met
XM_017004823.1:c.67657G>A (TTN)	XP_016860312.1:p.Val22553Met
XM_024453094.1:c.89152G>A (TTN)	XP_024308862.1:p.Val29718Met
XM_024453095.1:c.89149G>A (TTN)	XP_024308863.1:p.Val29717Met
XM_024453096.1:c.88582G>A (TTN)	XP_024308864.1:p.Val29528Met
XM_024453097.1:c.85924G>A (TTN)	XP_024308865.1:p.Val28642Met
XM_024453098.1:c.85843G>A (TTN)	XP_024308866.1:p.Val28615Met
XM_024453099.1:c.67606G>A (TTN)	XP_024308867.1:p.Val22536Met
XM_024453100.1:c.57460G>A (TTN)	XP_024308868.1:p.Val19154Met