Canonical Allele Identifier: CA381939528

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925732C>G (hg19) ; chr11:g.77214687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214687C>G , CM000673.2:g.77214687C>G	GRCh38
NC_000011.9:g.76925732C>G , CM000673.1:g.76925732C>G	GRCh37
NC_000011.8:g.76603380C>G	NCBI36
NG_009086.1:g.91423C>G
NG_009086.2:g.91442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6639C>G MANE Select	ENSP00000386331.3:p.Ser2213Arg
ENST00000670577.1:c.4440C>G
ENST00000409619.6:c.6492C>G	ENSP00000386635.2:p.Ser2164Arg
ENST00000409709.7:c.6639C>G	ENSP00000386331.3:p.Ser2213Arg
ENST00000458169.2:c.4065C>G	ENSP00000417017.2:p.Ser1355Arg
ENST00000458637.6:c.6519C>G	ENSP00000392185.2:p.Ser2173Arg
ENST00000481328.7:n.5189C>G
ENST00000605744.1:n.2153C>G
NM_000260.3:c.6639C>G	NP_000251.3:p.Ser2213Arg
NM_001127180.1:c.6519C>G	NP_001120652.1:p.Ser2173Arg
XM_005274012.2:c.6522C>G	XP_005274069.1:p.Ser2174Arg
XM_006718561.2:c.6525C>G	XP_006718624.1:p.Ser2175Arg
XR_949941.1:n.6933C>G
XM_017017780.1:c.6729C>G	XP_016873269.1:p.Ser2243Arg
XM_017017784.1:c.6612C>G	XP_016873273.1:p.Ser2204Arg
XM_017017788.1:c.6615C>G	XP_016873277.1:p.Ser2205Arg
XR_001747885.1:n.6718C>G
XR_001747887.1:n.6704C>G
NM_000260.4:c.6639C>G MANE Select	NP_000251.3:p.Ser2213Arg
NM_001127180.2:c.6519C>G	NP_001120652.1:p.Ser2173Arg
NM_001369365.1:c.6492C>G	NP_001356294.1:p.Ser2164Arg