Canonical Allele Identifier: CA224854968

Gene: MYO7A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5749G>T MANE Select	NP_000251.3:p.Glu1917Ter
ENST00000409709.9:c.5749G>T MANE Select	ENSP00000386331.3:p.Glu1917Ter
NM_000260.3:c.5749G>T	NP_000251.3:p.Glu1917Ter
NM_001127180.1:c.5635G>T	NP_001120652.1:p.Glu1879Ter
NM_001127180.2:c.5635G>T	NP_001120652.1:p.Glu1879Ter
NM_001369365.1:c.5602G>T	NP_001356294.1:p.Glu1868Ter
ENST00000409619.6:c.5602G>T	ENSP00000386635.2:p.Glu1868Ter
ENST00000409709.7:c.5749G>T	ENSP00000386331.3:p.Glu1917Ter
ENST00000458169.2:c.3175G>T	ENSP00000417017.2:p.Glu1059Ter
ENST00000458637.6:c.5635G>T	ENSP00000392185.2:p.Glu1879Ter
ENST00000481328.7:n.3285G>T
ENST00000605744.1:n.663G>T
ENST00000670577.1:c.3576G>T
XM_005274012.2:c.5632G>T	XP_005274069.1:p.Glu1878Ter
XM_006718558.2:c.5740G>T	XP_006718621.1:p.Glu1914Ter
XM_006718559.2:c.5635G>T	XP_006718622.1:p.Glu1879Ter
XM_006718560.2:c.5632G>T	XP_006718623.1:p.Glu1878Ter
XM_006718561.2:c.5635G>T	XP_006718624.1:p.Glu1879Ter
XM_011545044.1:c.5749G>T	XP_011543346.1:p.Glu1917Ter
XM_011545044.2:c.5749G>T	XP_011543346.1:p.Glu1917Ter
XM_011545045.1:c.5743G>T	XP_011543347.1:p.Glu1915Ter
XM_011545046.1:c.5716G>T	XP_011543348.1:p.Glu1906Ter
XM_011545046.2:c.5839G>T	XP_011543348.2:p.Glu1947Ter
XM_011545047.1:c.5653G>T	XP_011543349.1:p.Glu1885Ter
XM_011545048.1:c.5524G>T	XP_011543350.1:p.Glu1842Ter
XM_011545049.1:c.5512G>T	XP_011543351.1:p.Glu1838Ter
XM_011545050.1:c.5485G>T	XP_011543352.1:p.Glu1829Ter
XM_011545050.2:c.5485G>T	XP_011543352.1:p.Glu1829Ter
XM_011545051.1:c.5749G>T	XP_011543353.1:p.Glu1917Ter
XM_017017778.1:c.5833G>T	XP_016873267.1:p.Glu1945Ter
XM_017017779.1:c.5830G>T	XP_016873268.1:p.Glu1944Ter
XM_017017780.1:c.5839G>T	XP_016873269.1:p.Glu1947Ter
XM_017017781.1:c.5743G>T	XP_016873270.1:p.Glu1915Ter
XM_017017782.1:c.5725G>T	XP_016873271.1:p.Glu1909Ter
XM_017017783.1:c.5722G>T	XP_016873272.1:p.Glu1908Ter
XM_017017784.1:c.5722G>T	XP_016873273.1:p.Glu1908Ter
XM_017017785.1:c.5602G>T	XP_016873274.1:p.Glu1868Ter
XM_017017786.1:c.5839G>T	XP_016873275.1:p.Glu1947Ter
XM_017017788.1:c.5725G>T	XP_016873277.1:p.Glu1909Ter
XR_001747885.1:n.5854G>T
XR_001747886.1:n.5769G>T
XR_001747887.1:n.5840G>T
XR_949938.1:n.6069G>T
XR_949941.1:n.6069G>T