Canonical Allele Identifier: CA381934263
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77208736A>G , CM000673.2:g.77208736A>G GRCh38
NC_000011.9:g.76919781A>G , CM000673.1:g.76919781A>G GRCh37
NC_000011.8:g.76597429A>G NCBI36
NG_009086.1:g.85472A>G
NG_009086.2:g.85491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5984A>G MANE Select ENSP00000386331.3:p.Lys1995Arg
ENST00000670577.1:c.3785A>G
ENST00000409619.6:c.5837A>G ENSP00000386635.2:p.Lys1946Arg
ENST00000409709.7:c.5984A>G ENSP00000386331.3:p.Lys1995Arg
ENST00000458169.2:c.3410A>G ENSP00000417017.2:p.Lys1137Arg
ENST00000458637.6:c.5870A>G ENSP00000392185.2:p.Lys1957Arg
ENST00000481328.7:n.3520A>G
ENST00000605744.1:n.898A>G
NM_000260.3:c.5984A>G NP_000251.3:p.Lys1995Arg
NM_001127180.1:c.5870A>G NP_001120652.1:p.Lys1957Arg
XM_005274012.2:c.5867A>G XP_005274069.1:p.Lys1956Arg
XM_006718558.2:c.5975A>G XP_006718621.1:p.Lys1992Arg
XM_006718559.2:c.5870A>G XP_006718622.1:p.Lys1957Arg
XM_006718560.2:c.5867A>G XP_006718623.1:p.Lys1956Arg
XM_006718561.2:c.5870A>G XP_006718624.1:p.Lys1957Arg
XM_011545044.1:c.5984A>G XP_011543346.1:p.Lys1995Arg
XM_011545045.1:c.5978A>G XP_011543347.1:p.Lys1993Arg
XM_011545046.1:c.5951A>G XP_011543348.1:p.Lys1984Arg
XM_011545047.1:c.5888A>G XP_011543349.1:p.Lys1963Arg
XM_011545048.1:c.5759A>G XP_011543350.1:p.Lys1920Arg
XM_011545049.1:c.5747A>G XP_011543351.1:p.Lys1916Arg
XM_011545050.1:c.5720A>G XP_011543352.1:p.Lys1907Arg
XM_011545051.1:c.5984A>G XP_011543353.1:p.Lys1995Arg
XR_949938.1:n.6304A>G
XR_949941.1:n.6278A>G
XM_011545044.2:c.5984A>G XP_011543346.1:p.Lys1995Arg
XM_011545046.2:c.6074A>G XP_011543348.2:p.Lys2025Arg
XM_011545050.2:c.5720A>G XP_011543352.1:p.Lys1907Arg
XM_017017778.1:c.6068A>G XP_016873267.1:p.Lys2023Arg
XM_017017779.1:c.6065A>G XP_016873268.1:p.Lys2022Arg
XM_017017780.1:c.6074A>G XP_016873269.1:p.Lys2025Arg
XM_017017781.1:c.5978A>G XP_016873270.1:p.Lys1993Arg
XM_017017782.1:c.5960A>G XP_016873271.1:p.Lys1987Arg
XM_017017783.1:c.5957A>G XP_016873272.1:p.Lys1986Arg
XM_017017784.1:c.5957A>G XP_016873273.1:p.Lys1986Arg
XM_017017785.1:c.5837A>G XP_016873274.1:p.Lys1946Arg
XM_017017786.1:c.6074A>G XP_016873275.1:p.Lys2025Arg
XM_017017788.1:c.5960A>G XP_016873277.1:p.Lys1987Arg
XR_001747885.1:n.6063A>G
XR_001747886.1:n.6004A>G
XR_001747887.1:n.6049A>G
NM_000260.4:c.5984A>G MANE Select NP_000251.3:p.Lys1995Arg
NM_001127180.2:c.5870A>G NP_001120652.1:p.Lys1957Arg
NM_001369365.1:c.5837A>G NP_001356294.1:p.Lys1946Arg