Canonical Allele Identifier: CA381934669

Gene: MYO7A

Linked Data

• dbSNP Id: rs1352682956
• gnomAD v2: 11-76919831-A-G
• gnomAD v3: 11-77208786-A-G
• gnomAD v4: 11-77208786-A-G
• MyVariant Identifiers: chr11:g.76919831A>G (hg19) ; chr11:g.77208786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208786A>G , CM000673.2:g.77208786A>G	GRCh38
NC_000011.9:g.76919831A>G , CM000673.1:g.76919831A>G	GRCh37
NC_000011.8:g.76597479A>G	NCBI36
NG_009086.1:g.85522A>G
NG_009086.2:g.85541A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6034A>G MANE Select	ENSP00000386331.3:p.Ile2012Val
ENST00000670577.1:c.3835A>G
ENST00000409619.6:c.5887A>G	ENSP00000386635.2:p.Ile1963Val
ENST00000409709.7:c.6034A>G	ENSP00000386331.3:p.Ile2012Val
ENST00000458169.2:c.3460A>G	ENSP00000417017.2:p.Ile1154Val
ENST00000458637.6:c.5920A>G	ENSP00000392185.2:p.Ile1974Val
ENST00000481328.7:n.3570A>G
ENST00000605744.1:n.948A>G
NM_000260.3:c.6034A>G	NP_000251.3:p.Ile2012Val
NM_001127180.1:c.5920A>G	NP_001120652.1:p.Ile1974Val
XM_005274012.2:c.5917A>G	XP_005274069.1:p.Ile1973Val
XM_006718558.2:c.6025A>G	XP_006718621.1:p.Ile2009Val
XM_006718559.2:c.5920A>G	XP_006718622.1:p.Ile1974Val
XM_006718560.2:c.5917A>G	XP_006718623.1:p.Ile1973Val
XM_006718561.2:c.5920A>G	XP_006718624.1:p.Ile1974Val
XM_011545044.1:c.6034A>G	XP_011543346.1:p.Ile2012Val
XM_011545045.1:c.6028A>G	XP_011543347.1:p.Ile2010Val
XM_011545046.1:c.6001A>G	XP_011543348.1:p.Ile2001Val
XM_011545047.1:c.5938A>G	XP_011543349.1:p.Ile1980Val
XM_011545048.1:c.5809A>G	XP_011543350.1:p.Ile1937Val
XM_011545049.1:c.5797A>G	XP_011543351.1:p.Ile1933Val
XM_011545050.1:c.5770A>G	XP_011543352.1:p.Ile1924Val
XM_011545051.1:c.6034A>G	XP_011543353.1:p.Ile2012Val
XR_949938.1:n.6354A>G
XR_949941.1:n.6328A>G
XM_011545044.2:c.6034A>G	XP_011543346.1:p.Ile2012Val
XM_011545046.2:c.6124A>G	XP_011543348.2:p.Ile2042Val
XM_011545050.2:c.5770A>G	XP_011543352.1:p.Ile1924Val
XM_017017778.1:c.6118A>G	XP_016873267.1:p.Ile2040Val
XM_017017779.1:c.6115A>G	XP_016873268.1:p.Ile2039Val
XM_017017780.1:c.6124A>G	XP_016873269.1:p.Ile2042Val
XM_017017781.1:c.6028A>G	XP_016873270.1:p.Ile2010Val
XM_017017782.1:c.6010A>G	XP_016873271.1:p.Ile2004Val
XM_017017783.1:c.6007A>G	XP_016873272.1:p.Ile2003Val
XM_017017784.1:c.6007A>G	XP_016873273.1:p.Ile2003Val
XM_017017785.1:c.5887A>G	XP_016873274.1:p.Ile1963Val
XM_017017786.1:c.6124A>G	XP_016873275.1:p.Ile2042Val
XM_017017788.1:c.6010A>G	XP_016873277.1:p.Ile2004Val
XR_001747885.1:n.6113A>G
XR_001747886.1:n.6054A>G
XR_001747887.1:n.6099A>G
NM_000260.4:c.6034A>G MANE Select	NP_000251.3:p.Ile2012Val
NM_001127180.2:c.5920A>G	NP_001120652.1:p.Ile1974Val
NM_001369365.1:c.5887A>G	NP_001356294.1:p.Ile1963Val