Canonical Allele Identifier: CA398467514
Gene: MYO18A HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.29121138T>C
GRCh37 chr17:g.27448156T>C
Revel Score:
ENST00000528564 0.668
ENST00000354329 0.938
ENST00000359450 0.938
ENST00000533112 0.938
ENST00000531253 0.938
ENST00000527372 (MANE Select) 0.938
ENST00000458428 0.938
ENST00000531686 0.938
gnomAD v2:
17:27448156 T / C
gnomAD v3:
17:29121138 T / C
gnomAD v4:
chr17-29121138-T-C
Joint Max Group AF 0.00001299 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001215 (NFE)
ClinVar Allele:
2213190
ClinVar RCV:
RCV004085419
ClinVar Variation:
2218538
dbSNP:
1215698575
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29121138T>C , CM000679.2:g.29121138T>C GRCh38
NC_000017.10:g.27448156T>C , CM000679.1:g.27448156T>C GRCh37
NC_000017.9:g.24472282T>C NCBI36
NG_051989.1:g.64252A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704659.1:c.1481A>G ENSP00000515984.1:p.Tyr494Cys
ENST00000527372.7:c.1445A>G MANE Select ENSP00000437073.1:p.Tyr482Cys
ENST00000528564.2:c.488A>G ENSP00000436660.2:p.Tyr163Cys
ENST00000527372.5:c.1445A>G ENSP00000437073.1:p.Tyr482Cys
ENST00000528564.1:c.561A>G
ENST00000530254.6:c.555A>G
ENST00000531253.5:c.1445A>G ENSP00000434228.1:p.Tyr482Cys
ENST00000533112.5:c.1445A>G ENSP00000435932.1:p.Tyr482Cys
ENST00000590242.5:n.529A>G
ENST00000628822.2:c.1445A>G ENSP00000486682.1:p.Tyr482Cys
NM_078471.3:c.1445A>G NP_510880.2:p.Tyr482Cys
NM_203318.1:c.1445A>G NP_976063.1:p.Tyr482Cys
NM_001346765.1:c.1481A>G NP_001333694.1:p.Tyr494Cys
NM_001346766.1:c.1481A>G NP_001333695.1:p.Tyr494Cys
NM_001346767.1:c.1445A>G NP_001333696.1:p.Tyr482Cys
NM_001346768.1:c.71A>G NP_001333697.1:p.Tyr24Cys
NM_001346765.2:c.1481A>G NP_001333694.1:p.Tyr494Cys
NM_001346766.2:c.1481A>G NP_001333695.1:p.Tyr494Cys
NM_001346767.2:c.1445A>G NP_001333696.1:p.Tyr482Cys
NM_001346768.2:c.71A>G NP_001333697.1:p.Tyr24Cys
NM_078471.4:c.1445A>G MANE Select NP_510880.2:p.Tyr482Cys
NM_203318.2:c.1445A>G NP_976063.1:p.Tyr482Cys
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