Canonical Allele Identifier: CA381954144
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207393T>G , CM000673.2:g.77207393T>G GRCh38
NC_000011.9:g.76918438T>G , CM000673.1:g.76918438T>G GRCh37
NC_000011.8:g.76596086T>G NCBI36
NG_009086.1:g.84129T>G
NG_009086.2:g.84148T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5847T>G MANE Select ENSP00000386331.3:p.Ile1949Met
ENST00000670577.1:c.3674T>G
ENST00000409619.6:c.5700T>G ENSP00000386635.2:p.Ile1900Met
ENST00000409709.7:c.5847T>G ENSP00000386331.3:p.Ile1949Met
ENST00000458169.2:c.3273T>G ENSP00000417017.2:p.Ile1091Met
ENST00000458637.6:c.5733T>G ENSP00000392185.2:p.Ile1911Met
ENST00000481328.7:n.3383T>G
ENST00000605744.1:n.761T>G
NM_000260.3:c.5847T>G NP_000251.3:p.Ile1949Met
NM_001127180.1:c.5733T>G NP_001120652.1:p.Ile1911Met
XM_005274012.2:c.5730T>G XP_005274069.1:p.Ile1910Met
XM_006718558.2:c.5838T>G XP_006718621.1:p.Ile1946Met
XM_006718559.2:c.5733T>G XP_006718622.1:p.Ile1911Met
XM_006718560.2:c.5730T>G XP_006718623.1:p.Ile1910Met
XM_006718561.2:c.5733T>G XP_006718624.1:p.Ile1911Met
XM_011545044.1:c.5847T>G XP_011543346.1:p.Ile1949Met
XM_011545045.1:c.5841T>G XP_011543347.1:p.Ile1947Met
XM_011545046.1:c.5814T>G XP_011543348.1:p.Ile1938Met
XM_011545047.1:c.5751T>G XP_011543349.1:p.Ile1917Met
XM_011545048.1:c.5622T>G XP_011543350.1:p.Ile1874Met
XM_011545049.1:c.5610T>G XP_011543351.1:p.Ile1870Met
XM_011545050.1:c.5583T>G XP_011543352.1:p.Ile1861Met
XM_011545051.1:c.5847T>G XP_011543353.1:p.Ile1949Met
XR_949938.1:n.6167T>G
XR_949941.1:n.6167T>G
XM_011545044.2:c.5847T>G XP_011543346.1:p.Ile1949Met
XM_011545046.2:c.5937T>G XP_011543348.2:p.Ile1979Met
XM_011545050.2:c.5583T>G XP_011543352.1:p.Ile1861Met
XM_017017778.1:c.5931T>G XP_016873267.1:p.Ile1977Met
XM_017017779.1:c.5928T>G XP_016873268.1:p.Ile1976Met
XM_017017780.1:c.5937T>G XP_016873269.1:p.Ile1979Met
XM_017017781.1:c.5841T>G XP_016873270.1:p.Ile1947Met
XM_017017782.1:c.5823T>G XP_016873271.1:p.Ile1941Met
XM_017017783.1:c.5820T>G XP_016873272.1:p.Ile1940Met
XM_017017784.1:c.5820T>G XP_016873273.1:p.Ile1940Met
XM_017017785.1:c.5700T>G XP_016873274.1:p.Ile1900Met
XM_017017786.1:c.5937T>G XP_016873275.1:p.Ile1979Met
XM_017017788.1:c.5823T>G XP_016873277.1:p.Ile1941Met
XR_001747885.1:n.5952T>G
XR_001747886.1:n.5867T>G
XR_001747887.1:n.5938T>G
NM_000260.4:c.5847T>G MANE Select NP_000251.3:p.Ile1949Met
NM_001127180.2:c.5733T>G NP_001120652.1:p.Ile1911Met
NM_001369365.1:c.5700T>G NP_001356294.1:p.Ile1900Met