Canonical Allele Identifier: CA381954048
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207348G>T , CM000673.2:g.77207348G>T GRCh38
NC_000011.9:g.76918393G>T , CM000673.1:g.76918393G>T GRCh37
NC_000011.8:g.76596041G>T NCBI36
NG_009086.1:g.84084G>T
NG_009086.2:g.84103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5802G>T MANE Select ENSP00000386331.3:p.Arg1934Ser
ENST00000670577.1:c.3629G>T
ENST00000409619.6:c.5655G>T ENSP00000386635.2:p.Arg1885Ser
ENST00000409709.7:c.5802G>T ENSP00000386331.3:p.Arg1934Ser
ENST00000458169.2:c.3228G>T ENSP00000417017.2:p.Arg1076Ser
ENST00000458637.6:c.5688G>T ENSP00000392185.2:p.Arg1896Ser
ENST00000481328.7:n.3338G>T
ENST00000605744.1:n.716G>T
NM_000260.3:c.5802G>T NP_000251.3:p.Arg1934Ser
NM_001127180.1:c.5688G>T NP_001120652.1:p.Arg1896Ser
XM_005274012.2:c.5685G>T XP_005274069.1:p.Arg1895Ser
XM_006718558.2:c.5793G>T XP_006718621.1:p.Arg1931Ser
XM_006718559.2:c.5688G>T XP_006718622.1:p.Arg1896Ser
XM_006718560.2:c.5685G>T XP_006718623.1:p.Arg1895Ser
XM_006718561.2:c.5688G>T XP_006718624.1:p.Arg1896Ser
XM_011545044.1:c.5802G>T XP_011543346.1:p.Arg1934Ser
XM_011545045.1:c.5796G>T XP_011543347.1:p.Arg1932Ser
XM_011545046.1:c.5769G>T XP_011543348.1:p.Arg1923Ser
XM_011545047.1:c.5706G>T XP_011543349.1:p.Arg1902Ser
XM_011545048.1:c.5577G>T XP_011543350.1:p.Arg1859Ser
XM_011545049.1:c.5565G>T XP_011543351.1:p.Arg1855Ser
XM_011545050.1:c.5538G>T XP_011543352.1:p.Arg1846Ser
XM_011545051.1:c.5802G>T XP_011543353.1:p.Arg1934Ser
XR_949938.1:n.6122G>T
XR_949941.1:n.6122G>T
XM_011545044.2:c.5802G>T XP_011543346.1:p.Arg1934Ser
XM_011545046.2:c.5892G>T XP_011543348.2:p.Arg1964Ser
XM_011545050.2:c.5538G>T XP_011543352.1:p.Arg1846Ser
XM_017017778.1:c.5886G>T XP_016873267.1:p.Arg1962Ser
XM_017017779.1:c.5883G>T XP_016873268.1:p.Arg1961Ser
XM_017017780.1:c.5892G>T XP_016873269.1:p.Arg1964Ser
XM_017017781.1:c.5796G>T XP_016873270.1:p.Arg1932Ser
XM_017017782.1:c.5778G>T XP_016873271.1:p.Arg1926Ser
XM_017017783.1:c.5775G>T XP_016873272.1:p.Arg1925Ser
XM_017017784.1:c.5775G>T XP_016873273.1:p.Arg1925Ser
XM_017017785.1:c.5655G>T XP_016873274.1:p.Arg1885Ser
XM_017017786.1:c.5892G>T XP_016873275.1:p.Arg1964Ser
XM_017017788.1:c.5778G>T XP_016873277.1:p.Arg1926Ser
XR_001747885.1:n.5907G>T
XR_001747886.1:n.5822G>T
XR_001747887.1:n.5893G>T
NM_000260.4:c.5802G>T MANE Select NP_000251.3:p.Arg1934Ser
NM_001127180.2:c.5688G>T NP_001120652.1:p.Arg1896Ser
NM_001369365.1:c.5655G>T NP_001356294.1:p.Arg1885Ser