Canonical Allele Identifier: CA680409009

Gene: MYO7A

Linked Data

• dbSNP Id: rs1220329478
• gnomAD v4: 11-77214742-A-G
• MyVariant Identifiers: chr11:g.76925787A>G (hg19) ; chr11:g.77214742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214742A>G , CM000673.2:g.77214742A>G	GRCh38
NC_000011.9:g.76925787A>G , CM000673.1:g.76925787A>G	GRCh37
NC_000011.8:g.76603435A>G	NCBI36
NG_009086.1:g.91478A>G
NG_009086.2:g.91497A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*46A>G MANE Select	ENSP00000386331.3:n.*46A>G
ENST00000670577.1:c.4495A>G
ENST00000409619.6:c.*46A>G	ENSP00000386635.2:n.*46A>G
ENST00000409709.7:c.*46A>G	ENSP00000386331.3:n.*46A>G
ENST00000458169.2:c.4120A>G	ENSP00000417017.2:n.4120A>G
ENST00000458637.6:c.*46A>G	ENSP00000392185.2:n.*46A>G
ENST00000481328.7:n.5244A>G
ENST00000605744.1:n.2208A>G
NM_000260.3:c.*46A>G	NP_000251.3:n.*46A>G
NM_001127180.1:c.*46A>G	NP_001120652.1:n.*46A>G
XM_005274012.2:c.*46A>G	XP_005274069.1:n.*46A>G
XM_006718561.2:c.*46A>G	XP_006718624.1:n.*46A>G
XR_949941.1:n.6988A>G
XM_017017780.1:c.*46A>G	XP_016873269.1:n.*46A>G
XM_017017784.1:c.*46A>G	XP_016873273.1:n.*46A>G
XM_017017788.1:c.*46A>G	XP_016873277.1:n.*46A>G
XR_001747885.1:n.6773A>G
XR_001747887.1:n.6759A>G
NM_000260.4:c.*46A>G MANE Select	NP_000251.3:n.*46A>G
NM_001127180.2:c.*46A>G	NP_001120652.1:n.*46A>G
NM_001369365.1:c.*46A>G	NP_001356294.1:n.*46A>G