Canonical Allele Identifier: CA381939421

Gene: MYO7A

Linked Data

• dbSNP Id: rs1958047707
• MyVariant Identifiers: chr11:g.76925711C>A (hg19) ; chr11:g.77214666C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214666C>A , CM000673.2:g.77214666C>A	GRCh38
NC_000011.9:g.76925711C>A , CM000673.1:g.76925711C>A	GRCh37
NC_000011.8:g.76603359C>A	NCBI36
NG_009086.1:g.91402C>A
NG_009086.2:g.91421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6618C>A MANE Select	ENSP00000386331.3:p.Ser2206Arg
ENST00000670577.1:c.4419C>A
ENST00000409619.6:c.6471C>A	ENSP00000386635.2:p.Ser2157Arg
ENST00000409709.7:c.6618C>A	ENSP00000386331.3:p.Ser2206Arg
ENST00000458169.2:c.4044C>A	ENSP00000417017.2:p.Ser1348Arg
ENST00000458637.6:c.6498C>A	ENSP00000392185.2:p.Ser2166Arg
ENST00000481328.7:n.5168C>A
ENST00000605744.1:n.2132C>A
NM_000260.3:c.6618C>A	NP_000251.3:p.Ser2206Arg
NM_001127180.1:c.6498C>A	NP_001120652.1:p.Ser2166Arg
XM_005274012.2:c.6501C>A	XP_005274069.1:p.Ser2167Arg
XM_006718561.2:c.6504C>A	XP_006718624.1:p.Ser2168Arg
XR_949941.1:n.6912C>A
XM_017017780.1:c.6708C>A	XP_016873269.1:p.Ser2236Arg
XM_017017784.1:c.6591C>A	XP_016873273.1:p.Ser2197Arg
XM_017017788.1:c.6594C>A	XP_016873277.1:p.Ser2198Arg
XR_001747885.1:n.6697C>A
XR_001747887.1:n.6683C>A
NM_000260.4:c.6618C>A MANE Select	NP_000251.3:p.Ser2206Arg
NM_001127180.2:c.6498C>A	NP_001120652.1:p.Ser2166Arg
NM_001369365.1:c.6471C>A	NP_001356294.1:p.Ser2157Arg