Canonical Allele Identifier: CA381951406

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77201593T>G , CM000673.2:g.77201593T>G	GRCh38
NC_000011.9:g.76912638T>G , CM000673.1:g.76912638T>G	GRCh37
NC_000011.8:g.76590286T>G	NCBI36
NG_009086.1:g.78329T>G
NG_009086.2:g.78348T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4998T>G MANE Select	ENSP00000386331.3:p.Ser1666Arg
ENST00000670577.1:c.2839T>G
ENST00000409619.6:c.4851T>G	ENSP00000386635.2:p.Ser1617Arg
ENST00000409709.7:c.4998T>G	ENSP00000386331.3:p.Ser1666Arg
ENST00000458169.2:c.2424T>G	ENSP00000417017.2:p.Ser808Arg
ENST00000458637.6:c.4884T>G	ENSP00000392185.2:p.Ser1628Arg
ENST00000481328.7:n.2534T>G
NM_000260.3:c.4998T>G	NP_000251.3:p.Ser1666Arg
NM_001127180.1:c.4884T>G	NP_001120652.1:p.Ser1628Arg
XM_005274012.2:c.4881T>G	XP_005274069.1:p.Ser1627Arg
XM_006718558.2:c.4989T>G	XP_006718621.1:p.Ser1663Arg
XM_006718559.2:c.4884T>G	XP_006718622.1:p.Ser1628Arg
XM_006718560.2:c.4881T>G	XP_006718623.1:p.Ser1627Arg
XM_006718561.2:c.4884T>G	XP_006718624.1:p.Ser1628Arg
XM_011545044.1:c.4998T>G	XP_011543346.1:p.Ser1666Arg
XM_011545045.1:c.4992T>G	XP_011543347.1:p.Ser1664Arg
XM_011545046.1:c.4965T>G	XP_011543348.1:p.Ser1655Arg
XM_011545047.1:c.4902T>G	XP_011543349.1:p.Ser1634Arg
XM_011545048.1:c.4773T>G	XP_011543350.1:p.Ser1591Arg
XM_011545049.1:c.4761T>G	XP_011543351.1:p.Ser1587Arg
XM_011545050.1:c.4734T>G	XP_011543352.1:p.Ser1578Arg
XM_011545051.1:c.4998T>G	XP_011543353.1:p.Ser1666Arg
XM_011545052.1:c.4998T>G	XP_011543354.1:p.Ser1666Arg
XR_949938.1:n.5318T>G
XR_949941.1:n.5318T>G
XR_949942.1:n.5320T>G
XM_011545044.2:c.4998T>G	XP_011543346.1:p.Ser1666Arg
XM_011545046.2:c.5088T>G	XP_011543348.2:p.Ser1696Arg
XM_011545050.2:c.4734T>G	XP_011543352.1:p.Ser1578Arg
XM_017017778.1:c.5082T>G	XP_016873267.1:p.Ser1694Arg
XM_017017779.1:c.5079T>G	XP_016873268.1:p.Ser1693Arg
XM_017017780.1:c.5088T>G	XP_016873269.1:p.Ser1696Arg
XM_017017781.1:c.4992T>G	XP_016873270.1:p.Ser1664Arg
XM_017017782.1:c.4974T>G	XP_016873271.1:p.Ser1658Arg
XM_017017783.1:c.4971T>G	XP_016873272.1:p.Ser1657Arg
XM_017017784.1:c.4971T>G	XP_016873273.1:p.Ser1657Arg
XM_017017785.1:c.4851T>G	XP_016873274.1:p.Ser1617Arg
XM_017017786.1:c.5088T>G	XP_016873275.1:p.Ser1696Arg
XM_017017788.1:c.4974T>G	XP_016873277.1:p.Ser1658Arg
XR_001747885.1:n.5103T>G
XR_001747886.1:n.5103T>G
XR_001747887.1:n.5103T>G
XR_001747888.1:n.5103T>G
NM_000260.4:c.4998T>G MANE Select	NP_000251.3:p.Ser1666Arg
NM_001127180.2:c.4884T>G	NP_001120652.1:p.Ser1628Arg
NM_001369365.1:c.4851T>G	NP_001356294.1:p.Ser1617Arg