Canonical Allele Identifier: CA381934286
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77208738A>G , CM000673.2:g.77208738A>G GRCh38
NC_000011.9:g.76919783A>G , CM000673.1:g.76919783A>G GRCh37
NC_000011.8:g.76597431A>G NCBI36
NG_009086.1:g.85474A>G
NG_009086.2:g.85493A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5986A>G MANE Select ENSP00000386331.3:p.Lys1996Glu
ENST00000670577.1:c.3787A>G
ENST00000409619.6:c.5839A>G ENSP00000386635.2:p.Lys1947Glu
ENST00000409709.7:c.5986A>G ENSP00000386331.3:p.Lys1996Glu
ENST00000458169.2:c.3412A>G ENSP00000417017.2:p.Lys1138Glu
ENST00000458637.6:c.5872A>G ENSP00000392185.2:p.Lys1958Glu
ENST00000481328.7:n.3522A>G
ENST00000605744.1:n.900A>G
NM_000260.3:c.5986A>G NP_000251.3:p.Lys1996Glu
NM_001127180.1:c.5872A>G NP_001120652.1:p.Lys1958Glu
XM_005274012.2:c.5869A>G XP_005274069.1:p.Lys1957Glu
XM_006718558.2:c.5977A>G XP_006718621.1:p.Lys1993Glu
XM_006718559.2:c.5872A>G XP_006718622.1:p.Lys1958Glu
XM_006718560.2:c.5869A>G XP_006718623.1:p.Lys1957Glu
XM_006718561.2:c.5872A>G XP_006718624.1:p.Lys1958Glu
XM_011545044.1:c.5986A>G XP_011543346.1:p.Lys1996Glu
XM_011545045.1:c.5980A>G XP_011543347.1:p.Lys1994Glu
XM_011545046.1:c.5953A>G XP_011543348.1:p.Lys1985Glu
XM_011545047.1:c.5890A>G XP_011543349.1:p.Lys1964Glu
XM_011545048.1:c.5761A>G XP_011543350.1:p.Lys1921Glu
XM_011545049.1:c.5749A>G XP_011543351.1:p.Lys1917Glu
XM_011545050.1:c.5722A>G XP_011543352.1:p.Lys1908Glu
XM_011545051.1:c.5986A>G XP_011543353.1:p.Lys1996Glu
XR_949938.1:n.6306A>G
XR_949941.1:n.6280A>G
XM_011545044.2:c.5986A>G XP_011543346.1:p.Lys1996Glu
XM_011545046.2:c.6076A>G XP_011543348.2:p.Lys2026Glu
XM_011545050.2:c.5722A>G XP_011543352.1:p.Lys1908Glu
XM_017017778.1:c.6070A>G XP_016873267.1:p.Lys2024Glu
XM_017017779.1:c.6067A>G XP_016873268.1:p.Lys2023Glu
XM_017017780.1:c.6076A>G XP_016873269.1:p.Lys2026Glu
XM_017017781.1:c.5980A>G XP_016873270.1:p.Lys1994Glu
XM_017017782.1:c.5962A>G XP_016873271.1:p.Lys1988Glu
XM_017017783.1:c.5959A>G XP_016873272.1:p.Lys1987Glu
XM_017017784.1:c.5959A>G XP_016873273.1:p.Lys1987Glu
XM_017017785.1:c.5839A>G XP_016873274.1:p.Lys1947Glu
XM_017017786.1:c.6076A>G XP_016873275.1:p.Lys2026Glu
XM_017017788.1:c.5962A>G XP_016873277.1:p.Lys1988Glu
XR_001747885.1:n.6065A>G
XR_001747886.1:n.6006A>G
XR_001747887.1:n.6051A>G
NM_000260.4:c.5986A>G MANE Select NP_000251.3:p.Lys1996Glu
NM_001127180.2:c.5872A>G NP_001120652.1:p.Lys1958Glu
NM_001369365.1:c.5839A>G NP_001356294.1:p.Lys1947Glu