Canonical Allele Identifier: CA132434
Gene: MYO7A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.77213021G>A
GRCh37 chr11:g.76924066G>A
Revel Score:
ENST00000409709 (MANE Select) 0.194
ENST00000458637 0.194
ENST00000409619 0.194
ENST00000545136 0.194
ENST00000358342 0.194
ENST00000343356 0.194
ENST00000341717 0.194
ENST00000458169 0.194
gnomAD v2:
11:76924066 G / A
gnomAD v3:
11:77213021 G / A
gnomAD v4:
chr11-77213021-G-A
Joint Max Group AF 0.09752332 (AFR)
Genomes Max Group AF 0.09528615 (AFR)
Exomes Max Group AF 0.0985936 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77213021G>A , CM000673.2:g.77213021G>A GRCh38
NC_000011.9:g.76924066G>A , CM000673.1:g.76924066G>A GRCh37
NC_000011.8:g.76601714G>A NCBI36
NG_009086.1:g.89757G>A
NG_009086.2:g.89776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6424G>A MANE Select ENSP00000386331.3:p.Asp2142Asn
ENST00000670577.1:c.4225G>A
ENST00000409619.6:c.6277G>A ENSP00000386635.2:p.Asp2093Asn
ENST00000409709.7:c.6424G>A ENSP00000386331.3:p.Asp2142Asn
ENST00000458169.2:c.3850G>A ENSP00000417017.2:p.Asp1284Asn
ENST00000458637.6:c.6304G>A ENSP00000392185.2:p.Asp2102Asn
ENST00000481328.7:n.4974G>A
ENST00000481532.1:n.487G>A
ENST00000605744.1:n.1938G>A
NM_000260.3:c.6424G>A NP_000251.3:p.Asp2142Asn
NM_001127180.1:c.6304G>A NP_001120652.1:p.Asp2102Asn
XM_005274012.2:c.6307G>A XP_005274069.1:p.Asp2103Asn
XM_006718561.2:c.6310G>A XP_006718624.1:p.Asp2104Asn
XM_011545051.1:c.*96G>A XP_011543353.1:n.*96G>A
XR_949941.1:n.6718G>A
XM_017017780.1:c.6514G>A XP_016873269.1:p.Asp2172Asn
XM_017017784.1:c.6397G>A XP_016873273.1:p.Asp2133Asn
XM_017017786.1:c.*96G>A XP_016873275.1:n.*96G>A
XM_017017788.1:c.6400G>A XP_016873277.1:p.Asp2134Asn
XR_001747885.1:n.6503G>A
XR_001747887.1:n.6489G>A
NM_000260.4:c.6424G>A MANE Select NP_000251.3:p.Asp2142Asn
NM_001127180.2:c.6304G>A NP_001120652.1:p.Asp2102Asn
NM_001369365.1:c.6277G>A NP_001356294.1:p.Asp2093Asn
Search 100 bp 5'
Search 100 bp 3'