Canonical Allele Identifier: CA381939504

Gene: MYO7A

Linked Data

• dbSNP Id: rs762919726
• gnomAD v4: 11-77214683-G-A
• MyVariant Identifiers: chr11:g.76925728G>A (hg19) ; chr11:g.77214683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214683G>A , CM000673.2:g.77214683G>A	GRCh38
NC_000011.9:g.76925728G>A , CM000673.1:g.76925728G>A	GRCh37
NC_000011.8:g.76603376G>A	NCBI36
NG_009086.1:g.91419G>A
NG_009086.2:g.91438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6635G>A MANE Select	ENSP00000386331.3:p.Arg2212Lys
ENST00000670577.1:c.4436G>A
ENST00000409619.6:c.6488G>A	ENSP00000386635.2:p.Arg2163Lys
ENST00000409709.7:c.6635G>A	ENSP00000386331.3:p.Arg2212Lys
ENST00000458169.2:c.4061G>A	ENSP00000417017.2:p.Arg1354Lys
ENST00000458637.6:c.6515G>A	ENSP00000392185.2:p.Arg2172Lys
ENST00000481328.7:n.5185G>A
ENST00000605744.1:n.2149G>A
NM_000260.3:c.6635G>A	NP_000251.3:p.Arg2212Lys
NM_001127180.1:c.6515G>A	NP_001120652.1:p.Arg2172Lys
XM_005274012.2:c.6518G>A	XP_005274069.1:p.Arg2173Lys
XM_006718561.2:c.6521G>A	XP_006718624.1:p.Arg2174Lys
XR_949941.1:n.6929G>A
XM_017017780.1:c.6725G>A	XP_016873269.1:p.Arg2242Lys
XM_017017784.1:c.6608G>A	XP_016873273.1:p.Arg2203Lys
XM_017017788.1:c.6611G>A	XP_016873277.1:p.Arg2204Lys
XR_001747885.1:n.6714G>A
XR_001747887.1:n.6700G>A
NM_000260.4:c.6635G>A MANE Select	NP_000251.3:p.Arg2212Lys
NM_001127180.2:c.6515G>A	NP_001120652.1:p.Arg2172Lys
NM_001369365.1:c.6488G>A	NP_001356294.1:p.Arg2163Lys