Canonical Allele Identifier: CA6198955

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 620345
• ClinVar RCV Id: RCV000760715
• dbSNP Id: rs776930594
• ExAC: 11:76922375 G / A
• gnomAD v2: 11-76922375-G-A
• gnomAD v4: 11-77211330-G-A
• MyVariant Identifiers: chr11:g.76922375G>A (hg19) ; chr11:g.77211330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211330G>A , CM000673.2:g.77211330G>A	GRCh38
NC_000011.9:g.76922375G>A , CM000673.1:g.76922375G>A	GRCh37
NC_000011.8:g.76600023G>A	NCBI36
NG_009086.1:g.88066G>A
NG_009086.2:g.88085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6230G>A MANE Select	ENSP00000386331.3:p.Trp2077Ter
ENST00000670577.1:c.4031G>A
ENST00000409619.6:c.6083G>A	ENSP00000386635.2:p.Trp2028Ter
ENST00000409709.7:c.6230G>A	ENSP00000386331.3:p.Trp2077Ter
ENST00000458169.2:c.3656G>A	ENSP00000417017.2:p.Trp1219Ter
ENST00000458637.6:c.6116G>A	ENSP00000392185.2:p.Trp2039Ter
ENST00000481328.7:n.3766G>A
ENST00000526863.2:n.25+419G>A
ENST00000605744.1:n.1697G>A
NM_000260.3:c.6230G>A	NP_000251.3:p.Trp2077Ter
NM_001127180.1:c.6116G>A	NP_001120652.1:p.Trp2039Ter
XM_005274012.2:c.6113G>A	XP_005274069.1:p.Trp2038Ter
XM_006718558.2:c.6221G>A	XP_006718621.1:p.Trp2074Ter
XM_006718559.2:c.6116G>A	XP_006718622.1:p.Trp2039Ter
XM_006718560.2:c.6113G>A	XP_006718623.1:p.Trp2038Ter
XM_006718561.2:c.6116G>A	XP_006718624.1:p.Trp2039Ter
XM_011545044.1:c.6230G>A	XP_011543346.1:p.Trp2077Ter
XM_011545045.1:c.6224G>A	XP_011543347.1:p.Trp2075Ter
XM_011545046.1:c.6197G>A	XP_011543348.1:p.Trp2066Ter
XM_011545047.1:c.6134G>A	XP_011543349.1:p.Trp2045Ter
XM_011545048.1:c.6005G>A	XP_011543350.1:p.Trp2002Ter
XM_011545049.1:c.5993G>A	XP_011543351.1:p.Trp1998Ter
XM_011545050.1:c.5966G>A	XP_011543352.1:p.Trp1989Ter
XM_011545051.1:c.6230G>A	XP_011543353.1:p.Trp2077Ter
XR_949938.1:n.6550G>A
XR_949941.1:n.6524G>A
XM_011545044.2:c.6230G>A	XP_011543346.1:p.Trp2077Ter
XM_011545046.2:c.6320G>A	XP_011543348.2:p.Trp2107Ter
XM_011545050.2:c.5966G>A	XP_011543352.1:p.Trp1989Ter
XM_017017778.1:c.6314G>A	XP_016873267.1:p.Trp2105Ter
XM_017017779.1:c.6311G>A	XP_016873268.1:p.Trp2104Ter
XM_017017780.1:c.6320G>A	XP_016873269.1:p.Trp2107Ter
XM_017017781.1:c.6224G>A	XP_016873270.1:p.Trp2075Ter
XM_017017782.1:c.6206G>A	XP_016873271.1:p.Trp2069Ter
XM_017017783.1:c.6203G>A	XP_016873272.1:p.Trp2068Ter
XM_017017784.1:c.6203G>A	XP_016873273.1:p.Trp2068Ter
XM_017017785.1:c.6083G>A	XP_016873274.1:p.Trp2028Ter
XM_017017786.1:c.6320G>A	XP_016873275.1:p.Trp2107Ter
XM_017017788.1:c.6206G>A	XP_016873277.1:p.Trp2069Ter
XR_001747885.1:n.6309G>A
XR_001747887.1:n.6295G>A
NM_000260.4:c.6230G>A MANE Select	NP_000251.3:p.Trp2077Ter
NM_001127180.2:c.6116G>A	NP_001120652.1:p.Trp2039Ter
NM_001369365.1:c.6083G>A	NP_001356294.1:p.Trp2028Ter