Canonical Allele Identifier: CA6198619

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77202343G>A , CM000673.2:g.77202343G>A	GRCh38
NC_000011.9:g.76913388G>A , CM000673.1:g.76913388G>A	GRCh37
NC_000011.8:g.76591036G>A	NCBI36
NG_009086.1:g.79079G>A
NG_009086.2:g.79098G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5087G>A MANE Select	NP_000251.3:p.Arg1696Gln
ENST00000409709.9:c.5087G>A MANE Select	ENSP00000386331.3:p.Arg1696Gln
NM_000260.3:c.5087G>A	NP_000251.3:p.Arg1696Gln
NM_001127180.1:c.4973G>A	NP_001120652.1:p.Arg1658Gln
NM_001127180.2:c.4973G>A	NP_001120652.1:p.Arg1658Gln
NM_001369365.1:c.4940G>A	NP_001356294.1:p.Arg1647Gln
ENST00000409619.6:c.4940G>A	ENSP00000386635.2:p.Arg1647Gln
ENST00000409709.7:c.5087G>A	ENSP00000386331.3:p.Arg1696Gln
ENST00000458169.2:c.2513G>A	ENSP00000417017.2:p.Arg838Gln
ENST00000458637.6:c.4973G>A	ENSP00000392185.2:p.Arg1658Gln
ENST00000481328.7:n.2623G>A
ENST00000670577.1:c.2928G>A
XM_005274012.2:c.4970G>A	XP_005274069.1:p.Arg1657Gln
XM_006718558.2:c.5078G>A	XP_006718621.1:p.Arg1693Gln
XM_006718559.2:c.4973G>A	XP_006718622.1:p.Arg1658Gln
XM_006718560.2:c.4970G>A	XP_006718623.1:p.Arg1657Gln
XM_006718561.2:c.4973G>A	XP_006718624.1:p.Arg1658Gln
XM_011545044.1:c.5087G>A	XP_011543346.1:p.Arg1696Gln
XM_011545044.2:c.5087G>A	XP_011543346.1:p.Arg1696Gln
XM_011545045.1:c.5081G>A	XP_011543347.1:p.Arg1694Gln
XM_011545046.1:c.5054G>A	XP_011543348.1:p.Arg1685Gln
XM_011545046.2:c.5177G>A	XP_011543348.2:p.Arg1726Gln
XM_011545047.1:c.4991G>A	XP_011543349.1:p.Arg1664Gln
XM_011545048.1:c.4862G>A	XP_011543350.1:p.Arg1621Gln
XM_011545049.1:c.4850G>A	XP_011543351.1:p.Arg1617Gln
XM_011545050.1:c.4823G>A	XP_011543352.1:p.Arg1608Gln
XM_011545050.2:c.4823G>A	XP_011543352.1:p.Arg1608Gln
XM_011545051.1:c.5087G>A	XP_011543353.1:p.Arg1696Gln
XM_011545052.1:c.5087G>A	XP_011543354.1:p.Arg1696Gln
XM_017017778.1:c.5171G>A	XP_016873267.1:p.Arg1724Gln
XM_017017779.1:c.5168G>A	XP_016873268.1:p.Arg1723Gln
XM_017017780.1:c.5177G>A	XP_016873269.1:p.Arg1726Gln
XM_017017781.1:c.5081G>A	XP_016873270.1:p.Arg1694Gln
XM_017017782.1:c.5063G>A	XP_016873271.1:p.Arg1688Gln
XM_017017783.1:c.5060G>A	XP_016873272.1:p.Arg1687Gln
XM_017017784.1:c.5060G>A	XP_016873273.1:p.Arg1687Gln
XM_017017785.1:c.4940G>A	XP_016873274.1:p.Arg1647Gln
XM_017017786.1:c.5177G>A	XP_016873275.1:p.Arg1726Gln
XM_017017788.1:c.5063G>A	XP_016873277.1:p.Arg1688Gln
XR_001747885.1:n.5192G>A
XR_001747886.1:n.5192G>A
XR_001747887.1:n.5192G>A
XR_001747888.1:n.5192G>A
XR_949938.1:n.5407G>A
XR_949941.1:n.5407G>A
XR_949942.1:n.5409G>A