Canonical Allele Identifier: CA224853991

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77205599G>T , CM000673.2:g.77205599G>T	GRCh38
NC_000011.9:g.76916644G>T , CM000673.1:g.76916644G>T	GRCh37
NC_000011.8:g.76594292G>T	NCBI36
NG_009086.1:g.82335G>T
NG_009086.2:g.82354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5618G>T MANE Select	ENSP00000386331.3:p.Arg1873Leu
ENST00000670577.1:c.3445G>T
ENST00000409619.6:c.5471G>T	ENSP00000386635.2:p.Arg1824Leu
ENST00000409709.7:c.5618G>T	ENSP00000386331.3:p.Arg1873Leu
ENST00000458169.2:c.3044G>T	ENSP00000417017.2:p.Arg1015Leu
ENST00000458637.6:c.5504G>T	ENSP00000392185.2:p.Arg1835Leu
ENST00000481328.7:n.3154G>T
ENST00000605744.1:n.239G>T
NM_000260.3:c.5618G>T	NP_000251.3:p.Arg1873Leu
NM_001127180.1:c.5504G>T	NP_001120652.1:p.Arg1835Leu
XM_005274012.2:c.5501G>T	XP_005274069.1:p.Arg1834Leu
XM_006718558.2:c.5609G>T	XP_006718621.1:p.Arg1870Leu
XM_006718559.2:c.5504G>T	XP_006718622.1:p.Arg1835Leu
XM_006718560.2:c.5501G>T	XP_006718623.1:p.Arg1834Leu
XM_006718561.2:c.5504G>T	XP_006718624.1:p.Arg1835Leu
XM_011545044.1:c.5618G>T	XP_011543346.1:p.Arg1873Leu
XM_011545045.1:c.5612G>T	XP_011543347.1:p.Arg1871Leu
XM_011545046.1:c.5585G>T	XP_011543348.1:p.Arg1862Leu
XM_011545047.1:c.5522G>T	XP_011543349.1:p.Arg1841Leu
XM_011545048.1:c.5393G>T	XP_011543350.1:p.Arg1798Leu
XM_011545049.1:c.5381G>T	XP_011543351.1:p.Arg1794Leu
XM_011545050.1:c.5354G>T	XP_011543352.1:p.Arg1785Leu
XM_011545051.1:c.5618G>T	XP_011543353.1:p.Arg1873Leu
XM_011545052.1:c.5533G>T	XP_011543354.1:p.Gly1845Cys
XR_949938.1:n.5938G>T
XR_949941.1:n.5938G>T
XR_949942.1:n.5841G>T
XM_011545044.2:c.5618G>T	XP_011543346.1:p.Arg1873Leu
XM_011545046.2:c.5708G>T	XP_011543348.2:p.Arg1903Leu
XM_011545050.2:c.5354G>T	XP_011543352.1:p.Arg1785Leu
XM_017017778.1:c.5702G>T	XP_016873267.1:p.Arg1901Leu
XM_017017779.1:c.5699G>T	XP_016873268.1:p.Arg1900Leu
XM_017017780.1:c.5708G>T	XP_016873269.1:p.Arg1903Leu
XM_017017781.1:c.5612G>T	XP_016873270.1:p.Arg1871Leu
XM_017017782.1:c.5594G>T	XP_016873271.1:p.Arg1865Leu
XM_017017783.1:c.5591G>T	XP_016873272.1:p.Arg1864Leu
XM_017017784.1:c.5591G>T	XP_016873273.1:p.Arg1864Leu
XM_017017785.1:c.5471G>T	XP_016873274.1:p.Arg1824Leu
XM_017017786.1:c.5708G>T	XP_016873275.1:p.Arg1903Leu
XM_017017788.1:c.5594G>T	XP_016873277.1:p.Arg1865Leu
XR_001747885.1:n.5723G>T
XR_001747886.1:n.5638G>T
XR_001747887.1:n.5709G>T
XR_001747888.1:n.5624G>T
NM_000260.4:c.5618G>T MANE Select	NP_000251.3:p.Arg1873Leu
NM_001127180.2:c.5504G>T	NP_001120652.1:p.Arg1835Leu
NM_001369365.1:c.5471G>T	NP_001356294.1:p.Arg1824Leu