Canonical Allele Identifier: CA1984122848

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199745G= , CM000673.2:g.77199745G=	GRCh38
NC_000011.9:g.76910790G= , CM000673.1:g.76910790G=	GRCh37
NC_000011.8:g.76588438G=	NCBI36
NG_009086.1:g.76481G=
NG_009086.2:g.76500G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4779G= MANE Select	ENSP00000386331.3:p.Leu1593=
ENST00000670577.1:c.2620G=
ENST00000409619.6:c.4632G=	ENSP00000386635.2:p.Leu1544=
ENST00000409709.7:c.4779G=	ENSP00000386331.3:p.Leu1593=
ENST00000458169.2:c.2208G=	ENSP00000417017.2:p.Leu736=
ENST00000458637.6:c.4665G=	ENSP00000392185.2:p.Leu1555=
ENST00000481328.7:n.2318G=
NM_000260.3:c.4779G=	NP_000251.3:p.Leu1593=
NM_001127180.1:c.4665G=	NP_001120652.1:p.Leu1555=
XM_005274012.2:c.4665G=	XP_005274069.1:p.Leu1555=
XM_006718558.2:c.4773G=	XP_006718621.1:p.Leu1591=
XM_006718559.2:c.4665G=	XP_006718622.1:p.Leu1555=
XM_006718560.2:c.4665G=	XP_006718623.1:p.Leu1555=
XM_006718561.2:c.4665G=	XP_006718624.1:p.Leu1555=
XM_011545044.1:c.4779G=	XP_011543346.1:p.Leu1593=
XM_011545045.1:c.4773G=	XP_011543347.1:p.Leu1591=
XM_011545046.1:c.4746G=	XP_011543348.1:p.Leu1582=
XM_011545047.1:c.4683G=	XP_011543349.1:p.Leu1561=
XM_011545048.1:c.4554G=	XP_011543350.1:p.Leu1518=
XM_011545049.1:c.4542G=	XP_011543351.1:p.Leu1514=
XM_011545050.1:c.4515G=	XP_011543352.1:p.Leu1505=
XM_011545051.1:c.4779G=	XP_011543353.1:p.Leu1593=
XM_011545052.1:c.4779G=	XP_011543354.1:p.Leu1593=
XR_949938.1:n.5099G=
XR_949941.1:n.5099G=
XR_949942.1:n.5101G=
XM_011545044.2:c.4779G=	XP_011543346.1:p.Leu1593=
XM_011545046.2:c.4869G=	XP_011543348.2:p.Leu1623=
XM_011545050.2:c.4515G=	XP_011543352.1:p.Leu1505=
XM_017017778.1:c.4863G=	XP_016873267.1:p.Leu1621=
XM_017017779.1:c.4863G=	XP_016873268.1:p.Leu1621=
XM_017017780.1:c.4869G=	XP_016873269.1:p.Leu1623=
XM_017017781.1:c.4773G=	XP_016873270.1:p.Leu1591=
XM_017017782.1:c.4755G=	XP_016873271.1:p.Leu1585=
XM_017017783.1:c.4755G=	XP_016873272.1:p.Leu1585=
XM_017017784.1:c.4755G=	XP_016873273.1:p.Leu1585=
XM_017017785.1:c.4632G=	XP_016873274.1:p.Leu1544=
XM_017017786.1:c.4869G=	XP_016873275.1:p.Leu1623=
XM_017017788.1:c.4755G=	XP_016873277.1:p.Leu1585=
XR_001747885.1:n.4884G=
XR_001747886.1:n.4884G=
XR_001747887.1:n.4884G=
XR_001747888.1:n.4884G=
NM_000260.4:c.4779G= MANE Select	NP_000251.3:p.Leu1593=
NM_001127180.2:c.4665G=	NP_001120652.1:p.Leu1555=
NM_001369365.1:c.4632G=	NP_001356294.1:p.Leu1544=