Canonical Allele Identifier: CA381952926
Community Standard Title: NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77205503C>G , CM000673.2:g.77205503C>G GRCh38
NC_000011.9:g.76916548C>G , CM000673.1:g.76916548C>G GRCh37
NC_000011.8:g.76594196C>G NCBI36
NG_009086.1:g.82239C>G
NG_009086.2:g.82258C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.5522C>G MANE Select NP_000251.3:p.Thr1841Arg
ENST00000409709.9:c.5522C>G MANE Select ENSP00000386331.3:p.Thr1841Arg
NM_000260.3:c.5522C>G NP_000251.3:p.Thr1841Arg
NM_001127180.1:c.5408C>G NP_001120652.1:p.Thr1803Arg
NM_001127180.2:c.5408C>G NP_001120652.1:p.Thr1803Arg
NM_001369365.1:c.5375C>G NP_001356294.1:p.Thr1792Arg
ENST00000409619.6:c.5375C>G ENSP00000386635.2:p.Thr1792Arg
ENST00000409709.7:c.5522C>G ENSP00000386331.3:p.Thr1841Arg
ENST00000458169.2:c.2948C>G ENSP00000417017.2:p.Thr983Arg
ENST00000458637.6:c.5408C>G ENSP00000392185.2:p.Thr1803Arg
ENST00000481328.7:n.3058C>G
ENST00000605744.1:n.187-44C>G
ENST00000670577.1:c.3349C>G
XM_005274012.2:c.5405C>G XP_005274069.1:p.Thr1802Arg
XM_006718558.2:c.5513C>G XP_006718621.1:p.Thr1838Arg
XM_006718559.2:c.5408C>G XP_006718622.1:p.Thr1803Arg
XM_006718560.2:c.5405C>G XP_006718623.1:p.Thr1802Arg
XM_006718561.2:c.5408C>G XP_006718624.1:p.Thr1803Arg
XM_011545044.1:c.5522C>G XP_011543346.1:p.Thr1841Arg
XM_011545044.2:c.5522C>G XP_011543346.1:p.Thr1841Arg
XM_011545045.1:c.5516C>G XP_011543347.1:p.Thr1839Arg
XM_011545046.1:c.5489C>G XP_011543348.1:p.Thr1830Arg
XM_011545046.2:c.5612C>G XP_011543348.2:p.Thr1871Arg
XM_011545047.1:c.5426C>G XP_011543349.1:p.Thr1809Arg
XM_011545048.1:c.5297C>G XP_011543350.1:p.Thr1766Arg
XM_011545049.1:c.5285C>G XP_011543351.1:p.Thr1762Arg
XM_011545050.1:c.5258C>G XP_011543352.1:p.Thr1753Arg
XM_011545050.2:c.5258C>G XP_011543352.1:p.Thr1753Arg
XM_011545051.1:c.5522C>G XP_011543353.1:p.Thr1841Arg
XM_011545052.1:c.5481-44C>G XP_011543354.1:n.5481-44C>G
XM_017017778.1:c.5606C>G XP_016873267.1:p.Thr1869Arg
XM_017017779.1:c.5603C>G XP_016873268.1:p.Thr1868Arg
XM_017017780.1:c.5612C>G XP_016873269.1:p.Thr1871Arg
XM_017017781.1:c.5516C>G XP_016873270.1:p.Thr1839Arg
XM_017017782.1:c.5498C>G XP_016873271.1:p.Thr1833Arg
XM_017017783.1:c.5495C>G XP_016873272.1:p.Thr1832Arg
XM_017017784.1:c.5495C>G XP_016873273.1:p.Thr1832Arg
XM_017017785.1:c.5375C>G XP_016873274.1:p.Thr1792Arg
XM_017017786.1:c.5612C>G XP_016873275.1:p.Thr1871Arg
XM_017017788.1:c.5498C>G XP_016873277.1:p.Thr1833Arg
XR_001747885.1:n.5627C>G
XR_001747886.1:n.5586-44C>G
XR_001747887.1:n.5613C>G
XR_001747888.1:n.5572-44C>G
XR_949938.1:n.5842C>G
XR_949941.1:n.5842C>G
XR_949942.1:n.5789-44C>G