Canonical Allele Identifier: CA1021493
Gene: SIKE1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.114776425A>G
GRCh37 chr1:g.115319046A>G
Revel Score:
ENST00000369528 0.670
ENST00000060969 (MANE Select) 0.670
gnomAD v2:
1:115319046 A / G
gnomAD v3:
1:114776425 A / G
gnomAD v4:
chr1-114776425-A-G
Joint Max Group AF 0.00007914 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00008216 (NFE)
ClinVar Allele:
2361512
ClinVar RCV:
RCV004221149
ClinVar Variation:
2380623
dbSNP:
144057351
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114776425A>G , CM000663.2:g.114776425A>G GRCh38
NC_000001.10:g.115319046A>G , CM000663.1:g.115319046A>G GRCh37
NC_000001.9:g.115120569A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000060969.6:c.443T>C MANE Select ENSP00000060969.6:p.Met148Thr
ENST00000060969.5:c.443T>C ENSP00000060969.5:p.Met148Thr
ENST00000369524.5:n.225-2053T>C
ENST00000369528.9:c.455T>C ENSP00000358541.5:p.Met152Thr
ENST00000506320.1:n.464T>C
ENST00000510745.5:n.242T>C
NM_001102396.1:c.455T>C NP_001095866.1:p.Met152Thr
NM_025073.2:c.443T>C NP_079349.2:p.Met148Thr
NR_049741.1:n.585T>C
NR_049742.1:n.417T>C
NM_001102396.2:c.455T>C NP_001095866.1:p.Met152Thr
NM_025073.3:c.443T>C MANE Select NP_079349.2:p.Met148Thr
NR_049741.2:n.583T>C
NR_049742.2:n.415T>C
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