Canonical Allele Identifier: CA381939570

Gene: MYO7A

Linked Data

• dbSNP Id: rs1591516626
• MyVariant Identifiers: chr11:g.76925741A>T (hg19) ; chr11:g.77214696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214696A>T , CM000673.2:g.77214696A>T	GRCh38
NC_000011.9:g.76925741A>T , CM000673.1:g.76925741A>T	GRCh37
NC_000011.8:g.76603389A>T	NCBI36
NG_009086.1:g.91432A>T
NG_009086.2:g.91451A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6648A>T MANE Select	ENSP00000386331.3:p.Ter2216Cys
ENST00000670577.1:c.4449A>T
ENST00000409619.6:c.6501A>T	ENSP00000386635.2:p.Ter2167Cys
ENST00000409709.7:c.6648A>T	ENSP00000386331.3:p.Ter2216Cys
ENST00000458169.2:c.4074A>T	ENSP00000417017.2:p.Ter1358Cys
ENST00000458637.6:c.6528A>T	ENSP00000392185.2:p.Ter2176Cys
ENST00000481328.7:n.5198A>T
ENST00000605744.1:n.2162A>T
NM_000260.3:c.6648A>T	NP_000251.3:p.Ter2216Cys
NM_001127180.1:c.6528A>T	NP_001120652.1:p.Ter2176Cys
XM_005274012.2:c.6531A>T	XP_005274069.1:p.Ter2177Cys
XM_006718561.2:c.6534A>T	XP_006718624.1:p.Ter2178Cys
XR_949941.1:n.6942A>T
XM_017017780.1:c.6738A>T	XP_016873269.1:p.Ter2246Cys
XM_017017784.1:c.6621A>T	XP_016873273.1:p.Ter2207Cys
XM_017017788.1:c.6624A>T	XP_016873277.1:p.Ter2208Cys
XR_001747885.1:n.6727A>T
XR_001747887.1:n.6713A>T
NM_000260.4:c.6648A>T MANE Select	NP_000251.3:p.Ter2216Cys
NM_001127180.2:c.6528A>T	NP_001120652.1:p.Ter2176Cys
NM_001369365.1:c.6501A>T	NP_001356294.1:p.Ter2167Cys