Canonical Allele Identifier: CA915948226

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 636184
• ClinVar RCV Id: RCV000787854
• dbSNP Id: rs1591277785

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77158309_77158313dup , CM000673.2:g.77158309_77158313dup	GRCh38
NC_000011.9:g.76869355_76869359dup , CM000673.1:g.76869355_76869359dup	GRCh37
NC_000011.8:g.76547003_76547007dup	NCBI36
NG_009086.1:g.35046_35050dup
NG_009086.2:g.35064_35068dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.882_886dup MANE Select	ENSP00000386331.3:p.Gln296ProfsTer12
ENST00000409619.6:c.849_853dup	ENSP00000386635.2:p.Gln285ProfsTer12
ENST00000409709.7:c.882_886dup	ENSP00000386331.3:p.Gln296ProfsTer12
ENST00000409893.5:c.882_886dup	ENSP00000386689.1:p.Gln296ProfsTer12
ENST00000458637.6:c.882_886dup	ENSP00000392185.2:p.Gln296ProfsTer12
ENST00000620575.4:c.882_886dup	ENSP00000477640.1:p.Gln296ProfsTer12
NM_000260.3:c.882_886dup	NP_000251.3:p.Gln296ProfsTer12
NM_001127179.2:c.882_886dup	NP_001120651.2:p.Gln296ProfsTer12
NM_001127180.1:c.882_886dup	NP_001120652.1:p.Gln296ProfsTer12
XM_005274012.2:c.882_886dup	XP_005274069.1:p.Gln296ProfsTer12
XM_006718558.2:c.882_886dup	XP_006718621.1:p.Gln296ProfsTer12
XM_006718559.2:c.882_886dup	XP_006718622.1:p.Gln296ProfsTer12
XM_006718560.2:c.882_886dup	XP_006718623.1:p.Gln296ProfsTer12
XM_006718561.2:c.882_886dup	XP_006718624.1:p.Gln296ProfsTer12
XM_011545044.1:c.882_886dup	XP_011543346.1:p.Gln296ProfsTer12
XM_011545045.1:c.882_886dup	XP_011543347.1:p.Gln296ProfsTer12
XM_011545046.1:c.849_853dup	XP_011543348.1:p.Gln285ProfsTer12
XM_011545047.1:c.882_886dup	XP_011543349.1:p.Gln296ProfsTer12
XM_011545048.1:c.882_886dup	XP_011543350.1:p.Gln296ProfsTer12
XM_011545049.1:c.849+917_849+921dup	XP_011543351.1:n.849+917_849+921dup
XM_011545050.1:c.624_628dup	XP_011543352.1:p.Gln210ProfsTer12
XM_011545051.1:c.882_886dup	XP_011543353.1:p.Gln296ProfsTer12
XM_011545052.1:c.882_886dup	XP_011543354.1:p.Gln296ProfsTer12
XR_949938.1:n.1202_1206dup
XR_949941.1:n.1202_1206dup
XR_949942.1:n.1204_1208dup
XR_949943.1:n.1204_1208dup
XM_011545044.2:c.882_886dup	XP_011543346.1:p.Gln296ProfsTer12
XM_011545046.2:c.972_976dup	XP_011543348.2:p.Gln326ProfsTer12
XM_011545050.2:c.624_628dup	XP_011543352.1:p.Gln210ProfsTer12
XM_017017778.1:c.972_976dup	XP_016873267.1:p.Gln326ProfsTer12
XM_017017779.1:c.972_976dup	XP_016873268.1:p.Gln326ProfsTer12
XM_017017780.1:c.972_976dup	XP_016873269.1:p.Gln326ProfsTer12
XM_017017781.1:c.972_976dup	XP_016873270.1:p.Gln326ProfsTer12
XM_017017782.1:c.972_976dup	XP_016873271.1:p.Gln326ProfsTer12
XM_017017783.1:c.972_976dup	XP_016873272.1:p.Gln326ProfsTer12
XM_017017784.1:c.972_976dup	XP_016873273.1:p.Gln326ProfsTer12
XM_017017785.1:c.939+917_939+921dup	XP_016873274.1:n.939+917_939+921dup
XM_017017786.1:c.972_976dup	XP_016873275.1:p.Gln326ProfsTer12
XM_017017787.1:c.972_976dup	XP_016873276.1:p.Gln326ProfsTer12
XM_017017788.1:c.972_976dup	XP_016873277.1:p.Gln326ProfsTer12
XR_001747885.1:n.987_991dup
XR_001747886.1:n.987_991dup
XR_001747887.1:n.987_991dup
XR_001747888.1:n.987_991dup
XR_001747889.1:n.987_991dup
NM_000260.4:c.882_886dup MANE Select	NP_000251.3:p.Gln296ProfsTer12
NM_001127180.2:c.882_886dup	NP_001120652.1:p.Gln296ProfsTer12
NM_001369365.1:c.849_853dup	NP_001356294.1:p.Gln285ProfsTer12