Canonical Allele Identifier: CA381952531

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77204093G>A , CM000673.2:g.77204093G>A	GRCh38
NC_000011.9:g.76915138G>A , CM000673.1:g.76915138G>A	GRCh37
NC_000011.8:g.76592786G>A	NCBI36
NG_009086.1:g.80829G>A
NG_009086.2:g.80848G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5344G>A MANE Select	NP_000251.3:p.Gly1782Ser
ENST00000409709.9:c.5344G>A MANE Select	ENSP00000386331.3:p.Gly1782Ser
NM_000260.3:c.5344G>A	NP_000251.3:p.Gly1782Ser
NM_001127180.1:c.5230G>A	NP_001120652.1:p.Gly1744Ser
NM_001127180.2:c.5230G>A	NP_001120652.1:p.Gly1744Ser
NM_001369365.1:c.5197G>A	NP_001356294.1:p.Gly1733Ser
ENST00000409619.6:c.5197G>A	ENSP00000386635.2:p.Gly1733Ser
ENST00000409709.7:c.5344G>A	ENSP00000386331.3:p.Gly1782Ser
ENST00000458169.2:c.2770G>A	ENSP00000417017.2:p.Gly924Ser
ENST00000458637.6:c.5230G>A	ENSP00000392185.2:p.Gly1744Ser
ENST00000481328.7:n.2880G>A
ENST00000605744.1:n.50G>A
ENST00000670577.1:c.3171G>A
XM_005274012.2:c.5227G>A	XP_005274069.1:p.Gly1743Ser
XM_006718558.2:c.5335G>A	XP_006718621.1:p.Gly1779Ser
XM_006718559.2:c.5230G>A	XP_006718622.1:p.Gly1744Ser
XM_006718560.2:c.5227G>A	XP_006718623.1:p.Gly1743Ser
XM_006718561.2:c.5230G>A	XP_006718624.1:p.Gly1744Ser
XM_011545044.1:c.5344G>A	XP_011543346.1:p.Gly1782Ser
XM_011545044.2:c.5344G>A	XP_011543346.1:p.Gly1782Ser
XM_011545045.1:c.5338G>A	XP_011543347.1:p.Gly1780Ser
XM_011545046.1:c.5311G>A	XP_011543348.1:p.Gly1771Ser
XM_011545046.2:c.5434G>A	XP_011543348.2:p.Gly1812Ser
XM_011545047.1:c.5248G>A	XP_011543349.1:p.Gly1750Ser
XM_011545048.1:c.5119G>A	XP_011543350.1:p.Gly1707Ser
XM_011545049.1:c.5107G>A	XP_011543351.1:p.Gly1703Ser
XM_011545050.1:c.5080G>A	XP_011543352.1:p.Gly1694Ser
XM_011545050.2:c.5080G>A	XP_011543352.1:p.Gly1694Ser
XM_011545051.1:c.5344G>A	XP_011543353.1:p.Gly1782Ser
XM_011545052.1:c.5344G>A	XP_011543354.1:p.Gly1782Ser
XM_017017778.1:c.5428G>A	XP_016873267.1:p.Gly1810Ser
XM_017017779.1:c.5425G>A	XP_016873268.1:p.Gly1809Ser
XM_017017780.1:c.5434G>A	XP_016873269.1:p.Gly1812Ser
XM_017017781.1:c.5338G>A	XP_016873270.1:p.Gly1780Ser
XM_017017782.1:c.5320G>A	XP_016873271.1:p.Gly1774Ser
XM_017017783.1:c.5317G>A	XP_016873272.1:p.Gly1773Ser
XM_017017784.1:c.5317G>A	XP_016873273.1:p.Gly1773Ser
XM_017017785.1:c.5197G>A	XP_016873274.1:p.Gly1733Ser
XM_017017786.1:c.5434G>A	XP_016873275.1:p.Gly1812Ser
XM_017017788.1:c.5320G>A	XP_016873277.1:p.Gly1774Ser
XR_001747885.1:n.5449G>A
XR_001747886.1:n.5449G>A
XR_001747887.1:n.5435G>A
XR_001747888.1:n.5435G>A
XR_949938.1:n.5664G>A
XR_949941.1:n.5664G>A
XR_949942.1:n.5652G>A