Canonical Allele Identifier: CA6198830
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 374616
dbSNP Id: rs749438001

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207318C>A , CM000673.2:g.77207318C>A GRCh38
NC_000011.9:g.76918363C>A , CM000673.1:g.76918363C>A GRCh37
NC_000011.8:g.76596011C>A NCBI36
NG_009086.1:g.84054C>A
NG_009086.2:g.84073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5772C>A MANE Select ENSP00000386331.3:p.Ala1924=
ENST00000670577.1:c.3599C>A
ENST00000409619.6:c.5625C>A ENSP00000386635.2:p.Ala1875=
ENST00000409709.7:c.5772C>A ENSP00000386331.3:p.Ala1924=
ENST00000458169.2:c.3198C>A ENSP00000417017.2:p.Ala1066=
ENST00000458637.6:c.5658C>A ENSP00000392185.2:p.Ala1886=
ENST00000481328.7:n.3308C>A
ENST00000605744.1:n.686C>A
NM_000260.3:c.5772C>A NP_000251.3:p.Ala1924=
NM_001127180.1:c.5658C>A NP_001120652.1:p.Ala1886=
XM_005274012.2:c.5655C>A XP_005274069.1:p.Ala1885=
XM_006718558.2:c.5763C>A XP_006718621.1:p.Ala1921=
XM_006718559.2:c.5658C>A XP_006718622.1:p.Ala1886=
XM_006718560.2:c.5655C>A XP_006718623.1:p.Ala1885=
XM_006718561.2:c.5658C>A XP_006718624.1:p.Ala1886=
XM_011545044.1:c.5772C>A XP_011543346.1:p.Ala1924=
XM_011545045.1:c.5766C>A XP_011543347.1:p.Ala1922=
XM_011545046.1:c.5739C>A XP_011543348.1:p.Ala1913=
XM_011545047.1:c.5676C>A XP_011543349.1:p.Ala1892=
XM_011545048.1:c.5547C>A XP_011543350.1:p.Ala1849=
XM_011545049.1:c.5535C>A XP_011543351.1:p.Ala1845=
XM_011545050.1:c.5508C>A XP_011543352.1:p.Ala1836=
XM_011545051.1:c.5772C>A XP_011543353.1:p.Ala1924=
XR_949938.1:n.6092C>A
XR_949941.1:n.6092C>A
XM_011545044.2:c.5772C>A XP_011543346.1:p.Ala1924=
XM_011545046.2:c.5862C>A XP_011543348.2:p.Ala1954=
XM_011545050.2:c.5508C>A XP_011543352.1:p.Ala1836=
XM_017017778.1:c.5856C>A XP_016873267.1:p.Ala1952=
XM_017017779.1:c.5853C>A XP_016873268.1:p.Ala1951=
XM_017017780.1:c.5862C>A XP_016873269.1:p.Ala1954=
XM_017017781.1:c.5766C>A XP_016873270.1:p.Ala1922=
XM_017017782.1:c.5748C>A XP_016873271.1:p.Ala1916=
XM_017017783.1:c.5745C>A XP_016873272.1:p.Ala1915=
XM_017017784.1:c.5745C>A XP_016873273.1:p.Ala1915=
XM_017017785.1:c.5625C>A XP_016873274.1:p.Ala1875=
XM_017017786.1:c.5862C>A XP_016873275.1:p.Ala1954=
XM_017017788.1:c.5748C>A XP_016873277.1:p.Ala1916=
XR_001747885.1:n.5877C>A
XR_001747886.1:n.5792C>A
XR_001747887.1:n.5863C>A
NM_000260.4:c.5772C>A MANE Select NP_000251.3:p.Ala1924=
NM_001127180.2:c.5658C>A NP_001120652.1:p.Ala1886=
NM_001369365.1:c.5625C>A NP_001356294.1:p.Ala1875=