Canonical Allele Identifier: CA1984129832
Community Standard Title: NM_000260.4(MYO7A):c.6070C= (p.Arg2024=)
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211170C= , CM000673.2:g.77211170C= GRCh38
NC_000011.9:g.76922215C= , CM000673.1:g.76922215C= GRCh37
NC_000011.8:g.76599863C= NCBI36
NG_009086.1:g.87906C=
NG_009086.2:g.87925C=

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.6070C= MANE Select NP_000251.3:p.Arg2024=
ENST00000409709.9:c.6070C= MANE Select ENSP00000386331.3:p.Arg2024=
NM_000260.3:c.6070C= NP_000251.3:p.Arg2024=
NM_001127180.1:c.5956C= NP_001120652.1:p.Arg1986=
NM_001127180.2:c.5956C= NP_001120652.1:p.Arg1986=
NM_001369365.1:c.5923C= NP_001356294.1:p.Arg1975=
ENST00000409619.6:c.5923C= ENSP00000386635.2:p.Arg1975=
ENST00000409709.7:c.6070C= ENSP00000386331.3:p.Arg2024=
ENST00000458169.2:c.3496C= ENSP00000417017.2:p.Arg1166=
ENST00000458637.6:c.5956C= ENSP00000392185.2:p.Arg1986=
ENST00000481328.7:n.3606C=
ENST00000526863.2:n.25+259C=
ENST00000605744.1:n.1537C=
ENST00000670577.1:c.3871C=
XM_005274012.2:c.5953C= XP_005274069.1:p.Arg1985=
XM_006718558.2:c.6061C= XP_006718621.1:p.Arg2021=
XM_006718559.2:c.5956C= XP_006718622.1:p.Arg1986=
XM_006718560.2:c.5953C= XP_006718623.1:p.Arg1985=
XM_006718561.2:c.5956C= XP_006718624.1:p.Arg1986=
XM_011545044.1:c.6070C= XP_011543346.1:p.Arg2024=
XM_011545044.2:c.6070C= XP_011543346.1:p.Arg2024=
XM_011545045.1:c.6064C= XP_011543347.1:p.Arg2022=
XM_011545046.1:c.6037C= XP_011543348.1:p.Arg2013=
XM_011545046.2:c.6160C= XP_011543348.2:p.Arg2054=
XM_011545047.1:c.5974C= XP_011543349.1:p.Arg1992=
XM_011545048.1:c.5845C= XP_011543350.1:p.Arg1949=
XM_011545049.1:c.5833C= XP_011543351.1:p.Arg1945=
XM_011545050.1:c.5806C= XP_011543352.1:p.Arg1936=
XM_011545050.2:c.5806C= XP_011543352.1:p.Arg1936=
XM_011545051.1:c.6070C= XP_011543353.1:p.Arg2024=
XM_017017778.1:c.6154C= XP_016873267.1:p.Arg2052=
XM_017017779.1:c.6151C= XP_016873268.1:p.Arg2051=
XM_017017780.1:c.6160C= XP_016873269.1:p.Arg2054=
XM_017017781.1:c.6064C= XP_016873270.1:p.Arg2022=
XM_017017782.1:c.6046C= XP_016873271.1:p.Arg2016=
XM_017017783.1:c.6043C= XP_016873272.1:p.Arg2015=
XM_017017784.1:c.6043C= XP_016873273.1:p.Arg2015=
XM_017017785.1:c.5923C= XP_016873274.1:p.Arg1975=
XM_017017786.1:c.6160C= XP_016873275.1:p.Arg2054=
XM_017017788.1:c.6046C= XP_016873277.1:p.Arg2016=
XR_001747885.1:n.6149C=
XR_001747886.1:n.6090C=
XR_001747887.1:n.6135C=
XR_949938.1:n.6390C=
XR_949941.1:n.6364C=