Canonical Allele Identifier: CA475792060
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76922361C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211316C>G , CM000673.2:g.77211316C>G GRCh38
NC_000011.9:g.76922361C>G , CM000673.1:g.76922361C>G GRCh37
NC_000011.8:g.76600009C>G NCBI36
NG_009086.1:g.88052C>G
NG_009086.2:g.88071C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.6216C>G MANE Select ENSP00000386331.3:p.Val2072=
ENST00000670577.1:c.4017C>G
ENST00000409619.6:c.6069C>G ENSP00000386635.2:p.Val2023=
ENST00000409709.7:c.6216C>G ENSP00000386331.3:p.Val2072=
ENST00000458169.2:c.3642C>G ENSP00000417017.2:p.Val1214=
ENST00000458637.6:c.6102C>G ENSP00000392185.2:p.Val2034=
ENST00000481328.7:n.3752C>G
ENST00000526863.2:n.25+405C>G
ENST00000605744.1:n.1683C>G
NM_000260.3:c.6216C>G NP_000251.3:p.Val2072=
NM_001127180.1:c.6102C>G NP_001120652.1:p.Val2034=
XM_005274012.2:c.6099C>G XP_005274069.1:p.Val2033=
XM_006718558.2:c.6207C>G XP_006718621.1:p.Val2069=
XM_006718559.2:c.6102C>G XP_006718622.1:p.Val2034=
XM_006718560.2:c.6099C>G XP_006718623.1:p.Val2033=
XM_006718561.2:c.6102C>G XP_006718624.1:p.Val2034=
XM_011545044.1:c.6216C>G XP_011543346.1:p.Val2072=
XM_011545045.1:c.6210C>G XP_011543347.1:p.Val2070=
XM_011545046.1:c.6183C>G XP_011543348.1:p.Val2061=
XM_011545047.1:c.6120C>G XP_011543349.1:p.Val2040=
XM_011545048.1:c.5991C>G XP_011543350.1:p.Val1997=
XM_011545049.1:c.5979C>G XP_011543351.1:p.Val1993=
XM_011545050.1:c.5952C>G XP_011543352.1:p.Val1984=
XM_011545051.1:c.6216C>G XP_011543353.1:p.Val2072=
XR_949938.1:n.6536C>G
XR_949941.1:n.6510C>G
XM_011545044.2:c.6216C>G XP_011543346.1:p.Val2072=
XM_011545046.2:c.6306C>G XP_011543348.2:p.Val2102=
XM_011545050.2:c.5952C>G XP_011543352.1:p.Val1984=
XM_017017778.1:c.6300C>G XP_016873267.1:p.Val2100=
XM_017017779.1:c.6297C>G XP_016873268.1:p.Val2099=
XM_017017780.1:c.6306C>G XP_016873269.1:p.Val2102=
XM_017017781.1:c.6210C>G XP_016873270.1:p.Val2070=
XM_017017782.1:c.6192C>G XP_016873271.1:p.Val2064=
XM_017017783.1:c.6189C>G XP_016873272.1:p.Val2063=
XM_017017784.1:c.6189C>G XP_016873273.1:p.Val2063=
XM_017017785.1:c.6069C>G XP_016873274.1:p.Val2023=
XM_017017786.1:c.6306C>G XP_016873275.1:p.Val2102=
XM_017017788.1:c.6192C>G XP_016873277.1:p.Val2064=
XR_001747885.1:n.6295C>G
XR_001747887.1:n.6281C>G
NM_000260.4:c.6216C>G MANE Select NP_000251.3:p.Val2072=
NM_001127180.2:c.6102C>G NP_001120652.1:p.Val2034=
NM_001369365.1:c.6069C>G NP_001356294.1:p.Val2023=