Canonical Allele Identifier: CA278713
Gene: MYO7A HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition Usher syndrome
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr11:g.77214608G>A
GRCh37 chr11:g.76925653G>A
Revel Score:
ENST00000409709 (MANE Select) 0.915
ENST00000458637 0.915
ENST00000409619 0.915
ENST00000545136 0.915
ENST00000358342 0.915
ENST00000343356 0.915
ENST00000341717 0.915
ENST00000458169 0.915
gnomAD v2:
11:76925653 G / A
gnomAD v4:
chr11-77214608-G-A
Joint Max Group AF 8.1e-7 (NFE)
Exomes Max Group AF 8.6e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214608G>A , CM000673.2:g.77214608G>A GRCh38
NC_000011.9:g.76925653G>A , CM000673.1:g.76925653G>A GRCh37
NC_000011.8:g.76603301G>A NCBI36
NG_009086.1:g.91344G>A
NG_009086.2:g.91363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6560G>A MANE Select ENSP00000386331.3:p.Gly2187Asp
ENST00000670577.1:c.4361G>A
ENST00000409619.6:c.6413G>A ENSP00000386635.2:p.Gly2138Asp
ENST00000409709.7:c.6560G>A ENSP00000386331.3:p.Gly2187Asp
ENST00000458169.2:c.3986G>A ENSP00000417017.2:p.Gly1329Asp
ENST00000458637.6:c.6440G>A ENSP00000392185.2:p.Gly2147Asp
ENST00000481328.7:n.5110G>A
ENST00000605744.1:n.2074G>A
NM_000260.3:c.6560G>A NP_000251.3:p.Gly2187Asp
NM_001127180.1:c.6440G>A NP_001120652.1:p.Gly2147Asp
XM_005274012.2:c.6443G>A XP_005274069.1:p.Gly2148Asp
XM_006718561.2:c.6446G>A XP_006718624.1:p.Gly2149Asp
XR_949941.1:n.6854G>A
XM_017017780.1:c.6650G>A XP_016873269.1:p.Gly2217Asp
XM_017017784.1:c.6533G>A XP_016873273.1:p.Gly2178Asp
XM_017017788.1:c.6536G>A XP_016873277.1:p.Gly2179Asp
XR_001747885.1:n.6639G>A
XR_001747887.1:n.6625G>A
NM_000260.4:c.6560G>A MANE Select NP_000251.3:p.Gly2187Asp
NM_001127180.2:c.6440G>A NP_001120652.1:p.Gly2147Asp
NM_001369365.1:c.6413G>A NP_001356294.1:p.Gly2138Asp
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