Canonical Allele Identifier: CA381934726

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1303075
• ClinVar RCV Id: RCV001756574
• dbSNP Id: rs2135762079
• gnomAD v4: 11-77208793-A-G
• MyVariant Identifiers: chr11:g.76919838A>G (hg19) ; chr11:g.77208793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208793A>G , CM000673.2:g.77208793A>G	GRCh38
NC_000011.9:g.76919838A>G , CM000673.1:g.76919838A>G	GRCh37
NC_000011.8:g.76597486A>G	NCBI36
NG_009086.1:g.85529A>G
NG_009086.2:g.85548A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6041A>G MANE Select	ENSP00000386331.3:p.His2014Arg
ENST00000670577.1:c.3842A>G
ENST00000409619.6:c.5894A>G	ENSP00000386635.2:p.His1965Arg
ENST00000409709.7:c.6041A>G	ENSP00000386331.3:p.His2014Arg
ENST00000458169.2:c.3467A>G	ENSP00000417017.2:p.His1156Arg
ENST00000458637.6:c.5927A>G	ENSP00000392185.2:p.His1976Arg
ENST00000481328.7:n.3577A>G
ENST00000605744.1:n.955A>G
NM_000260.3:c.6041A>G	NP_000251.3:p.His2014Arg
NM_001127180.1:c.5927A>G	NP_001120652.1:p.His1976Arg
XM_005274012.2:c.5924A>G	XP_005274069.1:p.His1975Arg
XM_006718558.2:c.6032A>G	XP_006718621.1:p.His2011Arg
XM_006718559.2:c.5927A>G	XP_006718622.1:p.His1976Arg
XM_006718560.2:c.5924A>G	XP_006718623.1:p.His1975Arg
XM_006718561.2:c.5927A>G	XP_006718624.1:p.His1976Arg
XM_011545044.1:c.6041A>G	XP_011543346.1:p.His2014Arg
XM_011545045.1:c.6035A>G	XP_011543347.1:p.His2012Arg
XM_011545046.1:c.6008A>G	XP_011543348.1:p.His2003Arg
XM_011545047.1:c.5945A>G	XP_011543349.1:p.His1982Arg
XM_011545048.1:c.5816A>G	XP_011543350.1:p.His1939Arg
XM_011545049.1:c.5804A>G	XP_011543351.1:p.His1935Arg
XM_011545050.1:c.5777A>G	XP_011543352.1:p.His1926Arg
XM_011545051.1:c.6041A>G	XP_011543353.1:p.His2014Arg
XR_949938.1:n.6361A>G
XR_949941.1:n.6335A>G
XM_011545044.2:c.6041A>G	XP_011543346.1:p.His2014Arg
XM_011545046.2:c.6131A>G	XP_011543348.2:p.His2044Arg
XM_011545050.2:c.5777A>G	XP_011543352.1:p.His1926Arg
XM_017017778.1:c.6125A>G	XP_016873267.1:p.His2042Arg
XM_017017779.1:c.6122A>G	XP_016873268.1:p.His2041Arg
XM_017017780.1:c.6131A>G	XP_016873269.1:p.His2044Arg
XM_017017781.1:c.6035A>G	XP_016873270.1:p.His2012Arg
XM_017017782.1:c.6017A>G	XP_016873271.1:p.His2006Arg
XM_017017783.1:c.6014A>G	XP_016873272.1:p.His2005Arg
XM_017017784.1:c.6014A>G	XP_016873273.1:p.His2005Arg
XM_017017785.1:c.5894A>G	XP_016873274.1:p.His1965Arg
XM_017017786.1:c.6131A>G	XP_016873275.1:p.His2044Arg
XM_017017788.1:c.6017A>G	XP_016873277.1:p.His2006Arg
XR_001747885.1:n.6120A>G
XR_001747886.1:n.6061A>G
XR_001747887.1:n.6106A>G
NM_000260.4:c.6041A>G MANE Select	NP_000251.3:p.His2014Arg
NM_001127180.2:c.5927A>G	NP_001120652.1:p.His1976Arg
NM_001369365.1:c.5894A>G	NP_001356294.1:p.His1965Arg