Canonical Allele Identifier: CA381954114
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207380T>A , CM000673.2:g.77207380T>A GRCh38
NC_000011.9:g.76918425T>A , CM000673.1:g.76918425T>A GRCh37
NC_000011.8:g.76596073T>A NCBI36
NG_009086.1:g.84116T>A
NG_009086.2:g.84135T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5834T>A MANE Select ENSP00000386331.3:p.Leu1945His
ENST00000670577.1:c.3661T>A
ENST00000409619.6:c.5687T>A ENSP00000386635.2:p.Leu1896His
ENST00000409709.7:c.5834T>A ENSP00000386331.3:p.Leu1945His
ENST00000458169.2:c.3260T>A ENSP00000417017.2:p.Leu1087His
ENST00000458637.6:c.5720T>A ENSP00000392185.2:p.Leu1907His
ENST00000481328.7:n.3370T>A
ENST00000605744.1:n.748T>A
NM_000260.3:c.5834T>A NP_000251.3:p.Leu1945His
NM_001127180.1:c.5720T>A NP_001120652.1:p.Leu1907His
XM_005274012.2:c.5717T>A XP_005274069.1:p.Leu1906His
XM_006718558.2:c.5825T>A XP_006718621.1:p.Leu1942His
XM_006718559.2:c.5720T>A XP_006718622.1:p.Leu1907His
XM_006718560.2:c.5717T>A XP_006718623.1:p.Leu1906His
XM_006718561.2:c.5720T>A XP_006718624.1:p.Leu1907His
XM_011545044.1:c.5834T>A XP_011543346.1:p.Leu1945His
XM_011545045.1:c.5828T>A XP_011543347.1:p.Leu1943His
XM_011545046.1:c.5801T>A XP_011543348.1:p.Leu1934His
XM_011545047.1:c.5738T>A XP_011543349.1:p.Leu1913His
XM_011545048.1:c.5609T>A XP_011543350.1:p.Leu1870His
XM_011545049.1:c.5597T>A XP_011543351.1:p.Leu1866His
XM_011545050.1:c.5570T>A XP_011543352.1:p.Leu1857His
XM_011545051.1:c.5834T>A XP_011543353.1:p.Leu1945His
XR_949938.1:n.6154T>A
XR_949941.1:n.6154T>A
XM_011545044.2:c.5834T>A XP_011543346.1:p.Leu1945His
XM_011545046.2:c.5924T>A XP_011543348.2:p.Leu1975His
XM_011545050.2:c.5570T>A XP_011543352.1:p.Leu1857His
XM_017017778.1:c.5918T>A XP_016873267.1:p.Leu1973His
XM_017017779.1:c.5915T>A XP_016873268.1:p.Leu1972His
XM_017017780.1:c.5924T>A XP_016873269.1:p.Leu1975His
XM_017017781.1:c.5828T>A XP_016873270.1:p.Leu1943His
XM_017017782.1:c.5810T>A XP_016873271.1:p.Leu1937His
XM_017017783.1:c.5807T>A XP_016873272.1:p.Leu1936His
XM_017017784.1:c.5807T>A XP_016873273.1:p.Leu1936His
XM_017017785.1:c.5687T>A XP_016873274.1:p.Leu1896His
XM_017017786.1:c.5924T>A XP_016873275.1:p.Leu1975His
XM_017017788.1:c.5810T>A XP_016873277.1:p.Leu1937His
XR_001747885.1:n.5939T>A
XR_001747886.1:n.5854T>A
XR_001747887.1:n.5925T>A
NM_000260.4:c.5834T>A MANE Select NP_000251.3:p.Leu1945His
NM_001127180.2:c.5720T>A NP_001120652.1:p.Leu1907His
NM_001369365.1:c.5687T>A NP_001356294.1:p.Leu1896His