Canonical Allele Identifier: CA475792837

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1899362
• ClinVar RCV Id: RCV002582727
• dbSNP Id: rs1180045912
• gnomAD v2: 11-76925729-G-A
• gnomAD v3: 11-77214684-G-A
• gnomAD v4: 11-77214684-G-A
• MyVariant Identifiers: chr11:g.76925729G>A (hg19) ; chr11:g.77214684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214684G>A , CM000673.2:g.77214684G>A	GRCh38
NC_000011.9:g.76925729G>A , CM000673.1:g.76925729G>A	GRCh37
NC_000011.8:g.76603377G>A	NCBI36
NG_009086.1:g.91420G>A
NG_009086.2:g.91439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6636G>A MANE Select	ENSP00000386331.3:p.Arg2212=
ENST00000670577.1:c.4437G>A
ENST00000409619.6:c.6489G>A	ENSP00000386635.2:p.Arg2163=
ENST00000409709.7:c.6636G>A	ENSP00000386331.3:p.Arg2212=
ENST00000458169.2:c.4062G>A	ENSP00000417017.2:p.Arg1354=
ENST00000458637.6:c.6516G>A	ENSP00000392185.2:p.Arg2172=
ENST00000481328.7:n.5186G>A
ENST00000605744.1:n.2150G>A
NM_000260.3:c.6636G>A	NP_000251.3:p.Arg2212=
NM_001127180.1:c.6516G>A	NP_001120652.1:p.Arg2172=
XM_005274012.2:c.6519G>A	XP_005274069.1:p.Arg2173=
XM_006718561.2:c.6522G>A	XP_006718624.1:p.Arg2174=
XR_949941.1:n.6930G>A
XM_017017780.1:c.6726G>A	XP_016873269.1:p.Arg2242=
XM_017017784.1:c.6609G>A	XP_016873273.1:p.Arg2203=
XM_017017788.1:c.6612G>A	XP_016873277.1:p.Arg2204=
XR_001747885.1:n.6715G>A
XR_001747887.1:n.6701G>A
NM_000260.4:c.6636G>A MANE Select	NP_000251.3:p.Arg2212=
NM_001127180.2:c.6516G>A	NP_001120652.1:p.Arg2172=
NM_001369365.1:c.6489G>A	NP_001356294.1:p.Arg2163=