Canonical Allele Identifier: CA381935873
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211231T>G , CM000673.2:g.77211231T>G GRCh38
NC_000011.9:g.76922276T>G , CM000673.1:g.76922276T>G GRCh37
NC_000011.8:g.76599924T>G NCBI36
NG_009086.1:g.87967T>G
NG_009086.2:g.87986T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6131T>G MANE Select ENSP00000386331.3:p.Val2044Gly
ENST00000670577.1:c.3932T>G
ENST00000409619.6:c.5984T>G ENSP00000386635.2:p.Val1995Gly
ENST00000409709.7:c.6131T>G ENSP00000386331.3:p.Val2044Gly
ENST00000458169.2:c.3557T>G ENSP00000417017.2:p.Val1186Gly
ENST00000458637.6:c.6017T>G ENSP00000392185.2:p.Val2006Gly
ENST00000481328.7:n.3667T>G
ENST00000526863.2:n.25+320T>G
ENST00000605744.1:n.1598T>G
NM_000260.3:c.6131T>G NP_000251.3:p.Val2044Gly
NM_001127180.1:c.6017T>G NP_001120652.1:p.Val2006Gly
XM_005274012.2:c.6014T>G XP_005274069.1:p.Val2005Gly
XM_006718558.2:c.6122T>G XP_006718621.1:p.Val2041Gly
XM_006718559.2:c.6017T>G XP_006718622.1:p.Val2006Gly
XM_006718560.2:c.6014T>G XP_006718623.1:p.Val2005Gly
XM_006718561.2:c.6017T>G XP_006718624.1:p.Val2006Gly
XM_011545044.1:c.6131T>G XP_011543346.1:p.Val2044Gly
XM_011545045.1:c.6125T>G XP_011543347.1:p.Val2042Gly
XM_011545046.1:c.6098T>G XP_011543348.1:p.Val2033Gly
XM_011545047.1:c.6035T>G XP_011543349.1:p.Val2012Gly
XM_011545048.1:c.5906T>G XP_011543350.1:p.Val1969Gly
XM_011545049.1:c.5894T>G XP_011543351.1:p.Val1965Gly
XM_011545050.1:c.5867T>G XP_011543352.1:p.Val1956Gly
XM_011545051.1:c.6131T>G XP_011543353.1:p.Val2044Gly
XR_949938.1:n.6451T>G
XR_949941.1:n.6425T>G
XM_011545044.2:c.6131T>G XP_011543346.1:p.Val2044Gly
XM_011545046.2:c.6221T>G XP_011543348.2:p.Val2074Gly
XM_011545050.2:c.5867T>G XP_011543352.1:p.Val1956Gly
XM_017017778.1:c.6215T>G XP_016873267.1:p.Val2072Gly
XM_017017779.1:c.6212T>G XP_016873268.1:p.Val2071Gly
XM_017017780.1:c.6221T>G XP_016873269.1:p.Val2074Gly
XM_017017781.1:c.6125T>G XP_016873270.1:p.Val2042Gly
XM_017017782.1:c.6107T>G XP_016873271.1:p.Val2036Gly
XM_017017783.1:c.6104T>G XP_016873272.1:p.Val2035Gly
XM_017017784.1:c.6104T>G XP_016873273.1:p.Val2035Gly
XM_017017785.1:c.5984T>G XP_016873274.1:p.Val1995Gly
XM_017017786.1:c.6221T>G XP_016873275.1:p.Val2074Gly
XM_017017788.1:c.6107T>G XP_016873277.1:p.Val2036Gly
XR_001747885.1:n.6210T>G
XR_001747886.1:n.6151T>G
XR_001747887.1:n.6196T>G
NM_000260.4:c.6131T>G MANE Select NP_000251.3:p.Val2044Gly
NM_001127180.2:c.6017T>G NP_001120652.1:p.Val2006Gly
NM_001369365.1:c.5984T>G NP_001356294.1:p.Val1995Gly