Canonical Allele Identifier: CA381934137

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208719C>A , CM000673.2:g.77208719C>A	GRCh38
NC_000011.9:g.76919764C>A , CM000673.1:g.76919764C>A	GRCh37
NC_000011.8:g.76597412C>A	NCBI36
NG_009086.1:g.85455C>A
NG_009086.2:g.85474C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5967C>A MANE Select	NP_000251.3:p.Tyr1989Ter
ENST00000409709.9:c.5967C>A MANE Select	ENSP00000386331.3:p.Tyr1989Ter
NM_000260.3:c.5967C>A	NP_000251.3:p.Tyr1989Ter
NM_001127180.1:c.5853C>A	NP_001120652.1:p.Tyr1951Ter
NM_001127180.2:c.5853C>A	NP_001120652.1:p.Tyr1951Ter
NM_001369365.1:c.5820C>A	NP_001356294.1:p.Tyr1940Ter
ENST00000409619.6:c.5820C>A	ENSP00000386635.2:p.Tyr1940Ter
ENST00000409709.7:c.5967C>A	ENSP00000386331.3:p.Tyr1989Ter
ENST00000458169.2:c.3393C>A	ENSP00000417017.2:p.Tyr1131Ter
ENST00000458637.6:c.5853C>A	ENSP00000392185.2:p.Tyr1951Ter
ENST00000481328.7:n.3503C>A
ENST00000605744.1:n.881C>A
ENST00000670577.1:c.3772-4C>A
XM_005274012.2:c.5850C>A	XP_005274069.1:p.Tyr1950Ter
XM_006718558.2:c.5958C>A	XP_006718621.1:p.Tyr1986Ter
XM_006718559.2:c.5853C>A	XP_006718622.1:p.Tyr1951Ter
XM_006718560.2:c.5850C>A	XP_006718623.1:p.Tyr1950Ter
XM_006718561.2:c.5853C>A	XP_006718624.1:p.Tyr1951Ter
XM_011545044.1:c.5967C>A	XP_011543346.1:p.Tyr1989Ter
XM_011545044.2:c.5967C>A	XP_011543346.1:p.Tyr1989Ter
XM_011545045.1:c.5961C>A	XP_011543347.1:p.Tyr1987Ter
XM_011545046.1:c.5934C>A	XP_011543348.1:p.Tyr1978Ter
XM_011545046.2:c.6057C>A	XP_011543348.2:p.Tyr2019Ter
XM_011545047.1:c.5871C>A	XP_011543349.1:p.Tyr1957Ter
XM_011545048.1:c.5742C>A	XP_011543350.1:p.Tyr1914Ter
XM_011545049.1:c.5730C>A	XP_011543351.1:p.Tyr1910Ter
XM_011545050.1:c.5703C>A	XP_011543352.1:p.Tyr1901Ter
XM_011545050.2:c.5703C>A	XP_011543352.1:p.Tyr1901Ter
XM_011545051.1:c.5967C>A	XP_011543353.1:p.Tyr1989Ter
XM_017017778.1:c.6051C>A	XP_016873267.1:p.Tyr2017Ter
XM_017017779.1:c.6048C>A	XP_016873268.1:p.Tyr2016Ter
XM_017017780.1:c.6057C>A	XP_016873269.1:p.Tyr2019Ter
XM_017017781.1:c.5961C>A	XP_016873270.1:p.Tyr1987Ter
XM_017017782.1:c.5943C>A	XP_016873271.1:p.Tyr1981Ter
XM_017017783.1:c.5940C>A	XP_016873272.1:p.Tyr1980Ter
XM_017017784.1:c.5940C>A	XP_016873273.1:p.Tyr1980Ter
XM_017017785.1:c.5820C>A	XP_016873274.1:p.Tyr1940Ter
XM_017017786.1:c.6057C>A	XP_016873275.1:p.Tyr2019Ter
XM_017017788.1:c.5943C>A	XP_016873277.1:p.Tyr1981Ter
XR_001747885.1:n.6050-4C>A
XR_001747886.1:n.5987C>A
XR_001747887.1:n.6036-4C>A
XR_949938.1:n.6287C>A
XR_949941.1:n.6265-4C>A