Canonical Allele Identifier: CA6198829

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1284616
• ClinVar RCV Id: RCV001699768 ; RCV002496024
• dbSNP Id: rs780609120
• ExAC: 11:76918340 G / A
• gnomAD v2: 11-76918340-G-A
• gnomAD v3: 11-77207295-G-A
• gnomAD v4: 11-77207295-G-A
• COSMIC: COSM5373635
• MyVariant Identifiers: chr11:g.76918340G>A (hg19) ; chr11:g.77207295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207295G>A , CM000673.2:g.77207295G>A	GRCh38
NC_000011.9:g.76918340G>A , CM000673.1:g.76918340G>A	GRCh37
NC_000011.8:g.76595988G>A	NCBI36
NG_009086.1:g.84031G>A
NG_009086.2:g.84050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5749G>A MANE Select	ENSP00000386331.3:p.Glu1917Lys
ENST00000670577.1:c.3576G>A
ENST00000409619.6:c.5602G>A	ENSP00000386635.2:p.Glu1868Lys
ENST00000409709.7:c.5749G>A	ENSP00000386331.3:p.Glu1917Lys
ENST00000458169.2:c.3175G>A	ENSP00000417017.2:p.Glu1059Lys
ENST00000458637.6:c.5635G>A	ENSP00000392185.2:p.Glu1879Lys
ENST00000481328.7:n.3285G>A
ENST00000605744.1:n.663G>A
NM_000260.3:c.5749G>A	NP_000251.3:p.Glu1917Lys
NM_001127180.1:c.5635G>A	NP_001120652.1:p.Glu1879Lys
XM_005274012.2:c.5632G>A	XP_005274069.1:p.Glu1878Lys
XM_006718558.2:c.5740G>A	XP_006718621.1:p.Glu1914Lys
XM_006718559.2:c.5635G>A	XP_006718622.1:p.Glu1879Lys
XM_006718560.2:c.5632G>A	XP_006718623.1:p.Glu1878Lys
XM_006718561.2:c.5635G>A	XP_006718624.1:p.Glu1879Lys
XM_011545044.1:c.5749G>A	XP_011543346.1:p.Glu1917Lys
XM_011545045.1:c.5743G>A	XP_011543347.1:p.Glu1915Lys
XM_011545046.1:c.5716G>A	XP_011543348.1:p.Glu1906Lys
XM_011545047.1:c.5653G>A	XP_011543349.1:p.Glu1885Lys
XM_011545048.1:c.5524G>A	XP_011543350.1:p.Glu1842Lys
XM_011545049.1:c.5512G>A	XP_011543351.1:p.Glu1838Lys
XM_011545050.1:c.5485G>A	XP_011543352.1:p.Glu1829Lys
XM_011545051.1:c.5749G>A	XP_011543353.1:p.Glu1917Lys
XR_949938.1:n.6069G>A
XR_949941.1:n.6069G>A
XM_011545044.2:c.5749G>A	XP_011543346.1:p.Glu1917Lys
XM_011545046.2:c.5839G>A	XP_011543348.2:p.Glu1947Lys
XM_011545050.2:c.5485G>A	XP_011543352.1:p.Glu1829Lys
XM_017017778.1:c.5833G>A	XP_016873267.1:p.Glu1945Lys
XM_017017779.1:c.5830G>A	XP_016873268.1:p.Glu1944Lys
XM_017017780.1:c.5839G>A	XP_016873269.1:p.Glu1947Lys
XM_017017781.1:c.5743G>A	XP_016873270.1:p.Glu1915Lys
XM_017017782.1:c.5725G>A	XP_016873271.1:p.Glu1909Lys
XM_017017783.1:c.5722G>A	XP_016873272.1:p.Glu1908Lys
XM_017017784.1:c.5722G>A	XP_016873273.1:p.Glu1908Lys
XM_017017785.1:c.5602G>A	XP_016873274.1:p.Glu1868Lys
XM_017017786.1:c.5839G>A	XP_016873275.1:p.Glu1947Lys
XM_017017788.1:c.5725G>A	XP_016873277.1:p.Glu1909Lys
XR_001747885.1:n.5854G>A
XR_001747886.1:n.5769G>A
XR_001747887.1:n.5840G>A
NM_000260.4:c.5749G>A MANE Select	NP_000251.3:p.Glu1917Lys
NM_001127180.2:c.5635G>A	NP_001120652.1:p.Glu1879Lys
NM_001369365.1:c.5602G>A	NP_001356294.1:p.Glu1868Lys