Canonical Allele Identifier: CA381952422

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203191C>A , CM000673.2:g.77203191C>A	GRCh38
NC_000011.9:g.76914236C>A , CM000673.1:g.76914236C>A	GRCh37
NC_000011.8:g.76591884C>A	NCBI36
NG_009086.1:g.79927C>A
NG_009086.2:g.79946C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5300C>A MANE Select	NP_000251.3:p.Ser1767Ter
ENST00000409709.9:c.5300C>A MANE Select	ENSP00000386331.3:p.Ser1767Ter
NM_000260.3:c.5300C>A	NP_000251.3:p.Ser1767Ter
NM_001127180.1:c.5186C>A	NP_001120652.1:p.Ser1729Ter
NM_001127180.2:c.5186C>A	NP_001120652.1:p.Ser1729Ter
NM_001369365.1:c.5153C>A	NP_001356294.1:p.Ser1718Ter
ENST00000409619.6:c.5153C>A	ENSP00000386635.2:p.Ser1718Ter
ENST00000409709.7:c.5300C>A	ENSP00000386331.3:p.Ser1767Ter
ENST00000458169.2:c.2726C>A	ENSP00000417017.2:p.Ser909Ter
ENST00000458637.6:c.5186C>A	ENSP00000392185.2:p.Ser1729Ter
ENST00000481328.7:n.2836C>A
ENST00000605744.1:n.6C>A
ENST00000670577.1:c.3141C>A
XM_005274012.2:c.5183C>A	XP_005274069.1:p.Ser1728Ter
XM_006718558.2:c.5291C>A	XP_006718621.1:p.Ser1764Ter
XM_006718559.2:c.5186C>A	XP_006718622.1:p.Ser1729Ter
XM_006718560.2:c.5183C>A	XP_006718623.1:p.Ser1728Ter
XM_006718561.2:c.5186C>A	XP_006718624.1:p.Ser1729Ter
XM_011545044.1:c.5300C>A	XP_011543346.1:p.Ser1767Ter
XM_011545044.2:c.5300C>A	XP_011543346.1:p.Ser1767Ter
XM_011545045.1:c.5294C>A	XP_011543347.1:p.Ser1765Ter
XM_011545046.1:c.5267C>A	XP_011543348.1:p.Ser1756Ter
XM_011545046.2:c.5390C>A	XP_011543348.2:p.Ser1797Ter
XM_011545047.1:c.5204C>A	XP_011543349.1:p.Ser1735Ter
XM_011545048.1:c.5075C>A	XP_011543350.1:p.Ser1692Ter
XM_011545049.1:c.5063C>A	XP_011543351.1:p.Ser1688Ter
XM_011545050.1:c.5036C>A	XP_011543352.1:p.Ser1679Ter
XM_011545050.2:c.5036C>A	XP_011543352.1:p.Ser1679Ter
XM_011545051.1:c.5300C>A	XP_011543353.1:p.Ser1767Ter
XM_011545052.1:c.5300C>A	XP_011543354.1:p.Ser1767Ter
XM_017017778.1:c.5384C>A	XP_016873267.1:p.Ser1795Ter
XM_017017779.1:c.5381C>A	XP_016873268.1:p.Ser1794Ter
XM_017017780.1:c.5390C>A	XP_016873269.1:p.Ser1797Ter
XM_017017781.1:c.5294C>A	XP_016873270.1:p.Ser1765Ter
XM_017017782.1:c.5276C>A	XP_016873271.1:p.Ser1759Ter
XM_017017783.1:c.5273C>A	XP_016873272.1:p.Ser1758Ter
XM_017017784.1:c.5273C>A	XP_016873273.1:p.Ser1758Ter
XM_017017785.1:c.5153C>A	XP_016873274.1:p.Ser1718Ter
XM_017017786.1:c.5390C>A	XP_016873275.1:p.Ser1797Ter
XM_017017788.1:c.5276C>A	XP_016873277.1:p.Ser1759Ter
XR_001747885.1:n.5405C>A
XR_001747886.1:n.5405C>A
XR_001747887.1:n.5405C>A
XR_001747888.1:n.5405C>A
XR_949938.1:n.5620C>A
XR_949941.1:n.5620C>A
XR_949942.1:n.5622C>A