Canonical Allele Identifier: CA381953847

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77207296-A-T
• MyVariant Identifiers: chr11:g.76918341A>T (hg19) ; chr11:g.77207296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207296A>T , CM000673.2:g.77207296A>T	GRCh38
NC_000011.9:g.76918341A>T , CM000673.1:g.76918341A>T	GRCh37
NC_000011.8:g.76595989A>T	NCBI36
NG_009086.1:g.84032A>T
NG_009086.2:g.84051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5750A>T MANE Select	ENSP00000386331.3:p.Glu1917Val
ENST00000670577.1:c.3577A>T
ENST00000409619.6:c.5603A>T	ENSP00000386635.2:p.Glu1868Val
ENST00000409709.7:c.5750A>T	ENSP00000386331.3:p.Glu1917Val
ENST00000458169.2:c.3176A>T	ENSP00000417017.2:p.Glu1059Val
ENST00000458637.6:c.5636A>T	ENSP00000392185.2:p.Glu1879Val
ENST00000481328.7:n.3286A>T
ENST00000605744.1:n.664A>T
NM_000260.3:c.5750A>T	NP_000251.3:p.Glu1917Val
NM_001127180.1:c.5636A>T	NP_001120652.1:p.Glu1879Val
XM_005274012.2:c.5633A>T	XP_005274069.1:p.Glu1878Val
XM_006718558.2:c.5741A>T	XP_006718621.1:p.Glu1914Val
XM_006718559.2:c.5636A>T	XP_006718622.1:p.Glu1879Val
XM_006718560.2:c.5633A>T	XP_006718623.1:p.Glu1878Val
XM_006718561.2:c.5636A>T	XP_006718624.1:p.Glu1879Val
XM_011545044.1:c.5750A>T	XP_011543346.1:p.Glu1917Val
XM_011545045.1:c.5744A>T	XP_011543347.1:p.Glu1915Val
XM_011545046.1:c.5717A>T	XP_011543348.1:p.Glu1906Val
XM_011545047.1:c.5654A>T	XP_011543349.1:p.Glu1885Val
XM_011545048.1:c.5525A>T	XP_011543350.1:p.Glu1842Val
XM_011545049.1:c.5513A>T	XP_011543351.1:p.Glu1838Val
XM_011545050.1:c.5486A>T	XP_011543352.1:p.Glu1829Val
XM_011545051.1:c.5750A>T	XP_011543353.1:p.Glu1917Val
XR_949938.1:n.6070A>T
XR_949941.1:n.6070A>T
XM_011545044.2:c.5750A>T	XP_011543346.1:p.Glu1917Val
XM_011545046.2:c.5840A>T	XP_011543348.2:p.Glu1947Val
XM_011545050.2:c.5486A>T	XP_011543352.1:p.Glu1829Val
XM_017017778.1:c.5834A>T	XP_016873267.1:p.Glu1945Val
XM_017017779.1:c.5831A>T	XP_016873268.1:p.Glu1944Val
XM_017017780.1:c.5840A>T	XP_016873269.1:p.Glu1947Val
XM_017017781.1:c.5744A>T	XP_016873270.1:p.Glu1915Val
XM_017017782.1:c.5726A>T	XP_016873271.1:p.Glu1909Val
XM_017017783.1:c.5723A>T	XP_016873272.1:p.Glu1908Val
XM_017017784.1:c.5723A>T	XP_016873273.1:p.Glu1908Val
XM_017017785.1:c.5603A>T	XP_016873274.1:p.Glu1868Val
XM_017017786.1:c.5840A>T	XP_016873275.1:p.Glu1947Val
XM_017017788.1:c.5726A>T	XP_016873277.1:p.Glu1909Val
XR_001747885.1:n.5855A>T
XR_001747886.1:n.5770A>T
XR_001747887.1:n.5841A>T
NM_000260.4:c.5750A>T MANE Select	NP_000251.3:p.Glu1917Val
NM_001127180.2:c.5636A>T	NP_001120652.1:p.Glu1879Val
NM_001369365.1:c.5603A>T	NP_001356294.1:p.Glu1868Val