Canonical Allele Identifier: CA381951300

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77201546G>A , CM000673.2:g.77201546G>A	GRCh38
NC_000011.9:g.76912591G>A , CM000673.1:g.76912591G>A	GRCh37
NC_000011.8:g.76590239G>A	NCBI36
NG_009086.1:g.78282G>A
NG_009086.2:g.78301G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.4951G>A MANE Select	NP_000251.3:p.Gly1651Ser
ENST00000409709.9:c.4951G>A MANE Select	ENSP00000386331.3:p.Gly1651Ser
NM_000260.3:c.4951G>A	NP_000251.3:p.Gly1651Ser
NM_001127180.1:c.4837G>A	NP_001120652.1:p.Gly1613Ser
NM_001127180.2:c.4837G>A	NP_001120652.1:p.Gly1613Ser
NM_001369365.1:c.4804G>A	NP_001356294.1:p.Gly1602Ser
ENST00000409619.6:c.4804G>A	ENSP00000386635.2:p.Gly1602Ser
ENST00000409709.7:c.4951G>A	ENSP00000386331.3:p.Gly1651Ser
ENST00000458169.2:c.2377G>A	ENSP00000417017.2:p.Gly793Ser
ENST00000458637.6:c.4837G>A	ENSP00000392185.2:p.Gly1613Ser
ENST00000481328.7:n.2487G>A
ENST00000670577.1:c.2792G>A
XM_005274012.2:c.4834G>A	XP_005274069.1:p.Gly1612Ser
XM_006718558.2:c.4942G>A	XP_006718621.1:p.Gly1648Ser
XM_006718559.2:c.4837G>A	XP_006718622.1:p.Gly1613Ser
XM_006718560.2:c.4834G>A	XP_006718623.1:p.Gly1612Ser
XM_006718561.2:c.4837G>A	XP_006718624.1:p.Gly1613Ser
XM_011545044.1:c.4951G>A	XP_011543346.1:p.Gly1651Ser
XM_011545044.2:c.4951G>A	XP_011543346.1:p.Gly1651Ser
XM_011545045.1:c.4945G>A	XP_011543347.1:p.Gly1649Ser
XM_011545046.1:c.4918G>A	XP_011543348.1:p.Gly1640Ser
XM_011545046.2:c.5041G>A	XP_011543348.2:p.Gly1681Ser
XM_011545047.1:c.4855G>A	XP_011543349.1:p.Gly1619Ser
XM_011545048.1:c.4726G>A	XP_011543350.1:p.Gly1576Ser
XM_011545049.1:c.4714G>A	XP_011543351.1:p.Gly1572Ser
XM_011545050.1:c.4687G>A	XP_011543352.1:p.Gly1563Ser
XM_011545050.2:c.4687G>A	XP_011543352.1:p.Gly1563Ser
XM_011545051.1:c.4951G>A	XP_011543353.1:p.Gly1651Ser
XM_011545052.1:c.4951G>A	XP_011543354.1:p.Gly1651Ser
XM_017017778.1:c.5035G>A	XP_016873267.1:p.Gly1679Ser
XM_017017779.1:c.5032G>A	XP_016873268.1:p.Gly1678Ser
XM_017017780.1:c.5041G>A	XP_016873269.1:p.Gly1681Ser
XM_017017781.1:c.4945G>A	XP_016873270.1:p.Gly1649Ser
XM_017017782.1:c.4927G>A	XP_016873271.1:p.Gly1643Ser
XM_017017783.1:c.4924G>A	XP_016873272.1:p.Gly1642Ser
XM_017017784.1:c.4924G>A	XP_016873273.1:p.Gly1642Ser
XM_017017785.1:c.4804G>A	XP_016873274.1:p.Gly1602Ser
XM_017017786.1:c.5041G>A	XP_016873275.1:p.Gly1681Ser
XM_017017788.1:c.4927G>A	XP_016873277.1:p.Gly1643Ser
XR_001747885.1:n.5056G>A
XR_001747886.1:n.5056G>A
XR_001747887.1:n.5056G>A
XR_001747888.1:n.5056G>A
XR_949938.1:n.5271G>A
XR_949941.1:n.5271G>A
XR_949942.1:n.5273G>A