Canonical Allele Identifier: CA6198956
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 550490
dbSNP Id: rs759614902

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211335C>T , CM000673.2:g.77211335C>T GRCh38
NC_000011.9:g.76922380C>T , CM000673.1:g.76922380C>T GRCh37
NC_000011.8:g.76600028C>T NCBI36
NG_009086.1:g.88071C>T
NG_009086.2:g.88090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6235C>T MANE Select ENSP00000386331.3:p.Arg2079Trp
ENST00000670577.1:c.4036C>T
ENST00000409619.6:c.6088C>T ENSP00000386635.2:p.Arg2030Trp
ENST00000409709.7:c.6235C>T ENSP00000386331.3:p.Arg2079Trp
ENST00000458169.2:c.3661C>T ENSP00000417017.2:p.Arg1221Trp
ENST00000458637.6:c.6121C>T ENSP00000392185.2:p.Arg2041Trp
ENST00000481328.7:n.3771C>T
ENST00000526863.2:n.25+424C>T
ENST00000605744.1:n.1702C>T
NM_000260.3:c.6235C>T NP_000251.3:p.Arg2079Trp
NM_001127180.1:c.6121C>T NP_001120652.1:p.Arg2041Trp
XM_005274012.2:c.6118C>T XP_005274069.1:p.Arg2040Trp
XM_006718558.2:c.6226C>T XP_006718621.1:p.Arg2076Trp
XM_006718559.2:c.6121C>T XP_006718622.1:p.Arg2041Trp
XM_006718560.2:c.6118C>T XP_006718623.1:p.Arg2040Trp
XM_006718561.2:c.6121C>T XP_006718624.1:p.Arg2041Trp
XM_011545044.1:c.6235C>T XP_011543346.1:p.Arg2079Trp
XM_011545045.1:c.6229C>T XP_011543347.1:p.Arg2077Trp
XM_011545046.1:c.6202C>T XP_011543348.1:p.Arg2068Trp
XM_011545047.1:c.6139C>T XP_011543349.1:p.Arg2047Trp
XM_011545048.1:c.6010C>T XP_011543350.1:p.Arg2004Trp
XM_011545049.1:c.5998C>T XP_011543351.1:p.Arg2000Trp
XM_011545050.1:c.5971C>T XP_011543352.1:p.Arg1991Trp
XM_011545051.1:c.6235C>T XP_011543353.1:p.Arg2079Trp
XR_949938.1:n.6555C>T
XR_949941.1:n.6529C>T
XM_011545044.2:c.6235C>T XP_011543346.1:p.Arg2079Trp
XM_011545046.2:c.6325C>T XP_011543348.2:p.Arg2109Trp
XM_011545050.2:c.5971C>T XP_011543352.1:p.Arg1991Trp
XM_017017778.1:c.6319C>T XP_016873267.1:p.Arg2107Trp
XM_017017779.1:c.6316C>T XP_016873268.1:p.Arg2106Trp
XM_017017780.1:c.6325C>T XP_016873269.1:p.Arg2109Trp
XM_017017781.1:c.6229C>T XP_016873270.1:p.Arg2077Trp
XM_017017782.1:c.6211C>T XP_016873271.1:p.Arg2071Trp
XM_017017783.1:c.6208C>T XP_016873272.1:p.Arg2070Trp
XM_017017784.1:c.6208C>T XP_016873273.1:p.Arg2070Trp
XM_017017785.1:c.6088C>T XP_016873274.1:p.Arg2030Trp
XM_017017786.1:c.6325C>T XP_016873275.1:p.Arg2109Trp
XM_017017788.1:c.6211C>T XP_016873277.1:p.Arg2071Trp
XR_001747885.1:n.6314C>T
XR_001747887.1:n.6300C>T
NM_000260.4:c.6235C>T MANE Select NP_000251.3:p.Arg2079Trp
NM_001127180.2:c.6121C>T NP_001120652.1:p.Arg2041Trp
NM_001369365.1:c.6088C>T NP_001356294.1:p.Arg2030Trp