Canonical Allele Identifier: CA381935875

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211233-A-G
• MyVariant Identifiers: chr11:g.76922278A>G (hg19) ; chr11:g.77211233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211233A>G , CM000673.2:g.77211233A>G	GRCh38
NC_000011.9:g.76922278A>G , CM000673.1:g.76922278A>G	GRCh37
NC_000011.8:g.76599926A>G	NCBI36
NG_009086.1:g.87969A>G
NG_009086.2:g.87988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6133A>G MANE Select	ENSP00000386331.3:p.Lys2045Glu
ENST00000670577.1:c.3934A>G
ENST00000409619.6:c.5986A>G	ENSP00000386635.2:p.Lys1996Glu
ENST00000409709.7:c.6133A>G	ENSP00000386331.3:p.Lys2045Glu
ENST00000458169.2:c.3559A>G	ENSP00000417017.2:p.Lys1187Glu
ENST00000458637.6:c.6019A>G	ENSP00000392185.2:p.Lys2007Glu
ENST00000481328.7:n.3669A>G
ENST00000526863.2:n.25+322A>G
ENST00000605744.1:n.1600A>G
NM_000260.3:c.6133A>G	NP_000251.3:p.Lys2045Glu
NM_001127180.1:c.6019A>G	NP_001120652.1:p.Lys2007Glu
XM_005274012.2:c.6016A>G	XP_005274069.1:p.Lys2006Glu
XM_006718558.2:c.6124A>G	XP_006718621.1:p.Lys2042Glu
XM_006718559.2:c.6019A>G	XP_006718622.1:p.Lys2007Glu
XM_006718560.2:c.6016A>G	XP_006718623.1:p.Lys2006Glu
XM_006718561.2:c.6019A>G	XP_006718624.1:p.Lys2007Glu
XM_011545044.1:c.6133A>G	XP_011543346.1:p.Lys2045Glu
XM_011545045.1:c.6127A>G	XP_011543347.1:p.Lys2043Glu
XM_011545046.1:c.6100A>G	XP_011543348.1:p.Lys2034Glu
XM_011545047.1:c.6037A>G	XP_011543349.1:p.Lys2013Glu
XM_011545048.1:c.5908A>G	XP_011543350.1:p.Lys1970Glu
XM_011545049.1:c.5896A>G	XP_011543351.1:p.Lys1966Glu
XM_011545050.1:c.5869A>G	XP_011543352.1:p.Lys1957Glu
XM_011545051.1:c.6133A>G	XP_011543353.1:p.Lys2045Glu
XR_949938.1:n.6453A>G
XR_949941.1:n.6427A>G
XM_011545044.2:c.6133A>G	XP_011543346.1:p.Lys2045Glu
XM_011545046.2:c.6223A>G	XP_011543348.2:p.Lys2075Glu
XM_011545050.2:c.5869A>G	XP_011543352.1:p.Lys1957Glu
XM_017017778.1:c.6217A>G	XP_016873267.1:p.Lys2073Glu
XM_017017779.1:c.6214A>G	XP_016873268.1:p.Lys2072Glu
XM_017017780.1:c.6223A>G	XP_016873269.1:p.Lys2075Glu
XM_017017781.1:c.6127A>G	XP_016873270.1:p.Lys2043Glu
XM_017017782.1:c.6109A>G	XP_016873271.1:p.Lys2037Glu
XM_017017783.1:c.6106A>G	XP_016873272.1:p.Lys2036Glu
XM_017017784.1:c.6106A>G	XP_016873273.1:p.Lys2036Glu
XM_017017785.1:c.5986A>G	XP_016873274.1:p.Lys1996Glu
XM_017017786.1:c.6223A>G	XP_016873275.1:p.Lys2075Glu
XM_017017788.1:c.6109A>G	XP_016873277.1:p.Lys2037Glu
XR_001747885.1:n.6212A>G
XR_001747886.1:n.6153A>G
XR_001747887.1:n.6198A>G
NM_000260.4:c.6133A>G MANE Select	NP_000251.3:p.Lys2045Glu
NM_001127180.2:c.6019A>G	NP_001120652.1:p.Lys2007Glu
NM_001369365.1:c.5986A>G	NP_001356294.1:p.Lys1996Glu