Canonical Allele Identifier: CA132445

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 43338
• ClinVar RCV Id: RCV000036244 ; RCV000224230 ; RCV000295167 ; RCV000330682 ; RCV000387468 ; RCV001275541 ; RCV001526689
• dbSNP Id: rs111033231
• ExAC: 11:76925733 G / A
• gnomAD v2: 11-76925733-G-A
• gnomAD v3: 11-77214688-G-A
• gnomAD v4: 11-77214688-G-A
• MyVariant Identifiers: chr11:g.76925733G>A (hg19) ; chr11:g.77214688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214688G>A , CM000673.2:g.77214688G>A	GRCh38
NC_000011.9:g.76925733G>A , CM000673.1:g.76925733G>A	GRCh37
NC_000011.8:g.76603381G>A	NCBI36
NG_009086.1:g.91424G>A
NG_009086.2:g.91443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6640G>A MANE Select	ENSP00000386331.3:p.Gly2214Ser
ENST00000670577.1:c.4441G>A
ENST00000409619.6:c.6493G>A	ENSP00000386635.2:p.Gly2165Ser
ENST00000409709.7:c.6640G>A	ENSP00000386331.3:p.Gly2214Ser
ENST00000458169.2:c.4066G>A	ENSP00000417017.2:p.Gly1356Ser
ENST00000458637.6:c.6520G>A	ENSP00000392185.2:p.Gly2174Ser
ENST00000481328.7:n.5190G>A
ENST00000605744.1:n.2154G>A
NM_000260.3:c.6640G>A	NP_000251.3:p.Gly2214Ser
NM_001127180.1:c.6520G>A	NP_001120652.1:p.Gly2174Ser
XM_005274012.2:c.6523G>A	XP_005274069.1:p.Gly2175Ser
XM_006718561.2:c.6526G>A	XP_006718624.1:p.Gly2176Ser
XR_949941.1:n.6934G>A
XM_017017780.1:c.6730G>A	XP_016873269.1:p.Gly2244Ser
XM_017017784.1:c.6613G>A	XP_016873273.1:p.Gly2205Ser
XM_017017788.1:c.6616G>A	XP_016873277.1:p.Gly2206Ser
XR_001747885.1:n.6719G>A
XR_001747887.1:n.6705G>A
NM_000260.4:c.6640G>A MANE Select	NP_000251.3:p.Gly2214Ser
NM_001127180.2:c.6520G>A	NP_001120652.1:p.Gly2174Ser
NM_001369365.1:c.6493G>A	NP_001356294.1:p.Gly2165Ser