Canonical Allele Identifier: CA278685
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43289
ClinVar RCV Id: RCV000036194
dbSNP Id: rs397516320

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77205562dup , CM000673.2:g.77205562dup GRCh38
NC_000011.9:g.76916607dup , CM000673.1:g.76916607dup GRCh37
NC_000011.8:g.76594255dup NCBI36
NG_009086.1:g.82298dup
NG_009086.2:g.82317dup

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.5581dup MANE Select ENSP00000386331.3:p.Arg1861ProfsTer?
ENST00000670577.1:c.3408dup
ENST00000409619.6:c.5434dup ENSP00000386635.2:p.Arg1812ProfsTer?
ENST00000409709.7:c.5581dup ENSP00000386331.3:p.Arg1861ProfsTer?
ENST00000458169.2:c.3007dup ENSP00000417017.2:p.Arg1003ProfsTer?
ENST00000458637.6:c.5467dup ENSP00000392185.2:p.Arg1823ProfsTer?
ENST00000481328.7:n.3117dup
ENST00000605744.1:n.202dup
NM_000260.3:c.5581dup NP_000251.3:p.Arg1861ProfsTer?
NM_001127180.1:c.5467dup NP_001120652.1:p.Arg1823ProfsTer?
XM_005274012.2:c.5464dup XP_005274069.1:p.Arg1822ProfsTer?
XM_006718558.2:c.5572dup XP_006718621.1:p.Arg1858ProfsTer?
XM_006718559.2:c.5467dup XP_006718622.1:p.Arg1823ProfsTer?
XM_006718560.2:c.5464dup XP_006718623.1:p.Arg1822ProfsTer?
XM_006718561.2:c.5467dup XP_006718624.1:p.Arg1823ProfsTer?
XM_011545044.1:c.5581dup XP_011543346.1:p.Arg1861ProfsTer?
XM_011545045.1:c.5575dup XP_011543347.1:p.Arg1859ProfsTer?
XM_011545046.1:c.5548dup XP_011543348.1:p.Arg1850ProfsTer?
XM_011545047.1:c.5485dup XP_011543349.1:p.Arg1829ProfsTer?
XM_011545048.1:c.5356dup XP_011543350.1:p.Arg1786ProfsTer?
XM_011545049.1:c.5344dup XP_011543351.1:p.Arg1782ProfsTer?
XM_011545050.1:c.5317dup XP_011543352.1:p.Arg1773ProfsTer?
XM_011545051.1:c.5581dup XP_011543353.1:p.Arg1861ProfsTer?
XM_011545052.1:c.5496dup XP_011543354.1:p.Glu1833ArgfsTer?
XR_949938.1:n.5901dup
XR_949941.1:n.5901dup
XR_949942.1:n.5804dup
XM_011545044.2:c.5581dup XP_011543346.1:p.Arg1861ProfsTer?
XM_011545046.2:c.5671dup XP_011543348.2:p.Arg1891ProfsTer?
XM_011545050.2:c.5317dup XP_011543352.1:p.Arg1773ProfsTer?
XM_017017778.1:c.5665dup XP_016873267.1:p.Arg1889ProfsTer?
XM_017017779.1:c.5662dup XP_016873268.1:p.Arg1888ProfsTer?
XM_017017780.1:c.5671dup XP_016873269.1:p.Arg1891ProfsTer?
XM_017017781.1:c.5575dup XP_016873270.1:p.Arg1859ProfsTer?
XM_017017782.1:c.5557dup XP_016873271.1:p.Arg1853ProfsTer?
XM_017017783.1:c.5554dup XP_016873272.1:p.Arg1852ProfsTer?
XM_017017784.1:c.5554dup XP_016873273.1:p.Arg1852ProfsTer?
XM_017017785.1:c.5434dup XP_016873274.1:p.Arg1812ProfsTer?
XM_017017786.1:c.5671dup XP_016873275.1:p.Arg1891ProfsTer?
XM_017017788.1:c.5557dup XP_016873277.1:p.Arg1853ProfsTer?
XR_001747885.1:n.5686dup
XR_001747886.1:n.5601dup
XR_001747887.1:n.5672dup
XR_001747888.1:n.5587dup
NM_000260.4:c.5581dup MANE Select NP_000251.3:p.Arg1861ProfsTer?
NM_001127180.2:c.5467dup NP_001120652.1:p.Arg1823ProfsTer?
NM_001369365.1:c.5434dup NP_001356294.1:p.Arg1812ProfsTer?