Canonical Allele Identifier: CA6199140

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1809811
• ClinVar RCV Id: RCV002508367
• dbSNP Id: rs765073964
• ExAC: 11:76925722 G / A
• gnomAD v2: 11-76925722-G-A
• gnomAD v4: 11-77214677-G-A
• MyVariant Identifiers: chr11:g.76925722G>A (hg19) ; chr11:g.77214677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214677G>A , CM000673.2:g.77214677G>A	GRCh38
NC_000011.9:g.76925722G>A , CM000673.1:g.76925722G>A	GRCh37
NC_000011.8:g.76603370G>A	NCBI36
NG_009086.1:g.91413G>A
NG_009086.2:g.91432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6629G>A MANE Select	ENSP00000386331.3:p.Gly2210Asp
ENST00000670577.1:c.4430G>A
ENST00000409619.6:c.6482G>A	ENSP00000386635.2:p.Gly2161Asp
ENST00000409709.7:c.6629G>A	ENSP00000386331.3:p.Gly2210Asp
ENST00000458169.2:c.4055G>A	ENSP00000417017.2:p.Gly1352Asp
ENST00000458637.6:c.6509G>A	ENSP00000392185.2:p.Gly2170Asp
ENST00000481328.7:n.5179G>A
ENST00000605744.1:n.2143G>A
NM_000260.3:c.6629G>A	NP_000251.3:p.Gly2210Asp
NM_001127180.1:c.6509G>A	NP_001120652.1:p.Gly2170Asp
XM_005274012.2:c.6512G>A	XP_005274069.1:p.Gly2171Asp
XM_006718561.2:c.6515G>A	XP_006718624.1:p.Gly2172Asp
XR_949941.1:n.6923G>A
XM_017017780.1:c.6719G>A	XP_016873269.1:p.Gly2240Asp
XM_017017784.1:c.6602G>A	XP_016873273.1:p.Gly2201Asp
XM_017017788.1:c.6605G>A	XP_016873277.1:p.Gly2202Asp
XR_001747885.1:n.6708G>A
XR_001747887.1:n.6694G>A
NM_000260.4:c.6629G>A MANE Select	NP_000251.3:p.Gly2210Asp
NM_001127180.2:c.6509G>A	NP_001120652.1:p.Gly2170Asp
NM_001369365.1:c.6482G>A	NP_001356294.1:p.Gly2161Asp