Canonical Allele Identifier: CA8960881
Gene: MYO5B HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.49894991G>A
GRCh37 chr18:g.47421361G>A
Revel Score:
ENST00000285039 (MANE Select) 0.133
ENST00000324581 0.133
gnomAD v2:
18:47421361 G / A
gnomAD v3:
18:49894991 G / A
gnomAD v4:
chr18-49894991-G-A
Joint Max Group AF 0.00013355 (MID)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00014138 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49894991G>A , CM000680.2:g.49894991G>A GRCh38
NC_000018.9:g.47421361G>A , CM000680.1:g.47421361G>A GRCh37
NC_000018.8:g.45675359G>A NCBI36
NG_012925.1:g.305091C>T
NG_012925.2:g.305091C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697219.1:c.2792C>T
ENST00000285039.12:c.2995C>T MANE Select ENSP00000285039.6:p.Arg999Cys
ENST00000285039.11:c.2995C>T ENSP00000285039.6:p.Arg999Cys
ENST00000324581.10:c.424C>T ENSP00000315531.7:p.Arg142Cys
ENST00000616031.4:c.1906+41355C>T ENSP00000479038.1:n.1906+41355C>T
NM_001080467.2:c.2995C>T NP_001073936.1:p.Arg999Cys
NM_001080467.3:c.2995C>T MANE Select NP_001073936.1:p.Arg999Cys
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