Canonical Allele Identifier: CA381935952
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211251T>G , CM000673.2:g.77211251T>G GRCh38
NC_000011.9:g.76922296T>G , CM000673.1:g.76922296T>G GRCh37
NC_000011.8:g.76599944T>G NCBI36
NG_009086.1:g.87987T>G
NG_009086.2:g.88006T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6151T>G MANE Select ENSP00000386331.3:p.Ser2051Ala
ENST00000670577.1:c.3952T>G
ENST00000409619.6:c.6004T>G ENSP00000386635.2:p.Ser2002Ala
ENST00000409709.7:c.6151T>G ENSP00000386331.3:p.Ser2051Ala
ENST00000458169.2:c.3577T>G ENSP00000417017.2:p.Ser1193Ala
ENST00000458637.6:c.6037T>G ENSP00000392185.2:p.Ser2013Ala
ENST00000481328.7:n.3687T>G
ENST00000526863.2:n.25+340T>G
ENST00000605744.1:n.1618T>G
NM_000260.3:c.6151T>G NP_000251.3:p.Ser2051Ala
NM_001127180.1:c.6037T>G NP_001120652.1:p.Ser2013Ala
XM_005274012.2:c.6034T>G XP_005274069.1:p.Ser2012Ala
XM_006718558.2:c.6142T>G XP_006718621.1:p.Ser2048Ala
XM_006718559.2:c.6037T>G XP_006718622.1:p.Ser2013Ala
XM_006718560.2:c.6034T>G XP_006718623.1:p.Ser2012Ala
XM_006718561.2:c.6037T>G XP_006718624.1:p.Ser2013Ala
XM_011545044.1:c.6151T>G XP_011543346.1:p.Ser2051Ala
XM_011545045.1:c.6145T>G XP_011543347.1:p.Ser2049Ala
XM_011545046.1:c.6118T>G XP_011543348.1:p.Ser2040Ala
XM_011545047.1:c.6055T>G XP_011543349.1:p.Ser2019Ala
XM_011545048.1:c.5926T>G XP_011543350.1:p.Ser1976Ala
XM_011545049.1:c.5914T>G XP_011543351.1:p.Ser1972Ala
XM_011545050.1:c.5887T>G XP_011543352.1:p.Ser1963Ala
XM_011545051.1:c.6151T>G XP_011543353.1:p.Ser2051Ala
XR_949938.1:n.6471T>G
XR_949941.1:n.6445T>G
XM_011545044.2:c.6151T>G XP_011543346.1:p.Ser2051Ala
XM_011545046.2:c.6241T>G XP_011543348.2:p.Ser2081Ala
XM_011545050.2:c.5887T>G XP_011543352.1:p.Ser1963Ala
XM_017017778.1:c.6235T>G XP_016873267.1:p.Ser2079Ala
XM_017017779.1:c.6232T>G XP_016873268.1:p.Ser2078Ala
XM_017017780.1:c.6241T>G XP_016873269.1:p.Ser2081Ala
XM_017017781.1:c.6145T>G XP_016873270.1:p.Ser2049Ala
XM_017017782.1:c.6127T>G XP_016873271.1:p.Ser2043Ala
XM_017017783.1:c.6124T>G XP_016873272.1:p.Ser2042Ala
XM_017017784.1:c.6124T>G XP_016873273.1:p.Ser2042Ala
XM_017017785.1:c.6004T>G XP_016873274.1:p.Ser2002Ala
XM_017017786.1:c.6241T>G XP_016873275.1:p.Ser2081Ala
XM_017017788.1:c.6127T>G XP_016873277.1:p.Ser2043Ala
XR_001747885.1:n.6230T>G
XR_001747886.1:n.6171T>G
XR_001747887.1:n.6216T>G
NM_000260.4:c.6151T>G MANE Select NP_000251.3:p.Ser2051Ala
NM_001127180.2:c.6037T>G NP_001120652.1:p.Ser2013Ala
NM_001369365.1:c.6004T>G NP_001356294.1:p.Ser2002Ala