Canonical Allele Identifier: CA60969652

Linked Data

ClinVar Variation Id: 2119684
ClinVar RCV Id: RCV003054780
dbSNP Id: rs897086744

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591113C>T , CM000664.2:g.178591113C>T GRCh38
NC_000002.11:g.179455840C>T , CM000664.1:g.179455840C>T GRCh37
NC_000002.10:g.179164086C>T NCBI36
NG_011618.3:g.244690G>A , LRG_391:g.244690G>A
NG_051363.1:g.73287C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52908G>A (TTN) ENSP00000343764.6:p.Val17636=
ENST00000342175.11:c.33993G>A (TTN) ENSP00000340554.6:p.Val11331=
ENST00000359218.10:c.33792G>A (TTN) ENSP00000352154.5:p.Val11264=
ENST00000342175.10:c.33993G>A (TTN) ENSP00000340554.6:p.Val11331=
ENST00000342992.10:c.52908G>A (TTN) ENSP00000343764.6:p.Val17636=
ENST00000359218.9:c.33792G>A (TTN) ENSP00000352154.5:p.Val11264=
ENST00000460472.6:c.33417G>A (TTN) ENSP00000434586.1:p.Val11139=
ENST00000589042.5:c.60612G>A (TTN) MANE Select ENSP00000467141.1:p.Val20204=
ENST00000591111.5:c.55689G>A (TTN) ENSP00000465570.1:p.Val18563=
ENST00000615779.4:c.55689G>A (TTN) ENSP00000483597.1:p.Val18563=
NM_001256850.1:c.55689G>A (TTN) NP_001243779.1:p.Val18563=
NM_001267550.2:c.60612G>A (TTN) MANE Select NP_001254479.2:p.Val20204=
NM_003319.4:c.33417G>A (TTN) NP_003310.4:p.Val11139=
NM_133378.4:c.52908G>A (TTN) NP_596869.4:p.Val17636=
NM_133432.3:c.33792G>A (TTN) NP_597676.3:p.Val11264=
NM_133437.4:c.33993G>A (TTN) NP_597681.4:p.Val11331=
NR_038271.1:n.597-6483C>T (TTN-AS1)
NR_038272.1:n.3189-26C>T (TTN-AS1)
XM_011511729.1:c.59709G>A (TTN) XP_011510031.1:p.Val19903=
XM_011511730.1:c.33603G>A (TTN) XP_011510032.1:p.Val11201=
XM_011511731.1:c.33462G>A (TTN) XP_011510033.1:p.Val11154=
XM_017004819.1:c.59505G>A (TTN) XP_016860308.1:p.Val19835=
XM_017004820.1:c.54903G>A (TTN) XP_016860309.1:p.Val18301=
XM_017004821.1:c.54900G>A (TTN) XP_016860310.1:p.Val18300=
XM_017004822.1:c.51942G>A (TTN) XP_016860311.1:p.Val17314=
XM_017004823.1:c.33558G>A (TTN) XP_016860312.1:p.Val11186=
XM_024453094.1:c.55053G>A (TTN) XP_024308862.1:p.Val18351=
XM_024453095.1:c.55050G>A (TTN) XP_024308863.1:p.Val18350=
XM_024453096.1:c.54483G>A (TTN) XP_024308864.1:p.Val18161=
XM_024453097.1:c.51825G>A (TTN) XP_024308865.1:p.Val17275=
XM_024453098.1:c.51744G>A (TTN) XP_024308866.1:p.Val17248=
XM_024453099.1:c.33507G>A (TTN) XP_024308867.1:p.Val11169=
XM_024453100.1:c.23361G>A (TTN) XP_024308868.1:p.Val7787=