Canonical Allele Identifier: CA278649
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43208
dbSNP Id: rs111033214

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77189348G>A , CM000673.2:g.77189348G>A GRCh38
NC_000011.9:g.76900393G>A , CM000673.1:g.76900393G>A GRCh37
NC_000011.8:g.76578041G>A NCBI36
NG_009086.1:g.66084G>A
NG_009086.2:g.66103G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.3508G>A MANE Select ENSP00000386331.3:p.Glu1170Lys
ENST00000670577.1:c.1349G>A
ENST00000409619.6:c.3475G>A ENSP00000386635.2:p.Glu1159Lys
ENST00000409709.7:c.3508G>A ENSP00000386331.3:p.Glu1170Lys
ENST00000458169.2:c.1051G>A ENSP00000417017.2:p.Glu351Lys
ENST00000458637.6:c.3508G>A ENSP00000392185.2:p.Glu1170Lys
ENST00000467137.1:n.35G>A
ENST00000481328.7:n.1051G>A
NM_000260.3:c.3508G>A NP_000251.3:p.Glu1170Lys
NM_001127180.1:c.3508G>A NP_001120652.1:p.Glu1170Lys
XM_005274012.2:c.3508G>A XP_005274069.1:p.Glu1170Lys
XM_006718558.2:c.3508G>A XP_006718621.1:p.Glu1170Lys
XM_006718559.2:c.3508G>A XP_006718622.1:p.Glu1170Lys
XM_006718560.2:c.3508G>A XP_006718623.1:p.Glu1170Lys
XM_006718561.2:c.3508G>A XP_006718624.1:p.Glu1170Lys
XM_011545044.1:c.3508G>A XP_011543346.1:p.Glu1170Lys
XM_011545045.1:c.3508G>A XP_011543347.1:p.Glu1170Lys
XM_011545046.1:c.3475G>A XP_011543348.1:p.Glu1159Lys
XM_011545047.1:c.3418G>A XP_011543349.1:p.Glu1140Lys
XM_011545048.1:c.3289G>A XP_011543350.1:p.Glu1097Lys
XM_011545049.1:c.3277G>A XP_011543351.1:p.Glu1093Lys
XM_011545050.1:c.3250G>A XP_011543352.1:p.Glu1084Lys
XM_011545051.1:c.3508G>A XP_011543353.1:p.Glu1170Lys
XM_011545052.1:c.3508G>A XP_011543354.1:p.Glu1170Lys
XR_949938.1:n.3828G>A
XR_949941.1:n.3828G>A
XR_949942.1:n.3830G>A
XR_949943.1:n.3830G>A
XM_011545044.2:c.3508G>A XP_011543346.1:p.Glu1170Lys
XM_011545046.2:c.3598G>A XP_011543348.2:p.Glu1200Lys
XM_011545050.2:c.3250G>A XP_011543352.1:p.Glu1084Lys
XM_017017778.1:c.3598G>A XP_016873267.1:p.Glu1200Lys
XM_017017779.1:c.3598G>A XP_016873268.1:p.Glu1200Lys
XM_017017780.1:c.3598G>A XP_016873269.1:p.Glu1200Lys
XM_017017781.1:c.3508G>A XP_016873270.1:p.Glu1170Lys
XM_017017782.1:c.3598G>A XP_016873271.1:p.Glu1200Lys
XM_017017783.1:c.3598G>A XP_016873272.1:p.Glu1200Lys
XM_017017784.1:c.3598G>A XP_016873273.1:p.Glu1200Lys
XM_017017785.1:c.3367G>A XP_016873274.1:p.Glu1123Lys
XM_017017786.1:c.3598G>A XP_016873275.1:p.Glu1200Lys
XM_017017787.1:c.3598G>A XP_016873276.1:p.Glu1200Lys
XM_017017788.1:c.3598G>A XP_016873277.1:p.Glu1200Lys
XR_001747885.1:n.3613G>A
XR_001747886.1:n.3613G>A
XR_001747887.1:n.3613G>A
XR_001747888.1:n.3613G>A
XR_001747889.1:n.3613G>A
NM_000260.4:c.3508G>A MANE Select NP_000251.3:p.Glu1170Lys
NM_001127180.2:c.3508G>A NP_001120652.1:p.Glu1170Lys
NM_001369365.1:c.3475G>A NP_001356294.1:p.Glu1159Lys