Canonical Allele Identifier: CA381939550

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214692-A-G
• MyVariant Identifiers: chr11:g.76925737A>G (hg19) ; chr11:g.77214692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214692A>G , CM000673.2:g.77214692A>G	GRCh38
NC_000011.9:g.76925737A>G , CM000673.1:g.76925737A>G	GRCh37
NC_000011.8:g.76603385A>G	NCBI36
NG_009086.1:g.91428A>G
NG_009086.2:g.91447A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6644A>G MANE Select	ENSP00000386331.3:p.Lys2215Arg
ENST00000670577.1:c.4445A>G
ENST00000409619.6:c.6497A>G	ENSP00000386635.2:p.Lys2166Arg
ENST00000409709.7:c.6644A>G	ENSP00000386331.3:p.Lys2215Arg
ENST00000458169.2:c.4070A>G	ENSP00000417017.2:p.Lys1357Arg
ENST00000458637.6:c.6524A>G	ENSP00000392185.2:p.Lys2175Arg
ENST00000481328.7:n.5194A>G
ENST00000605744.1:n.2158A>G
NM_000260.3:c.6644A>G	NP_000251.3:p.Lys2215Arg
NM_001127180.1:c.6524A>G	NP_001120652.1:p.Lys2175Arg
XM_005274012.2:c.6527A>G	XP_005274069.1:p.Lys2176Arg
XM_006718561.2:c.6530A>G	XP_006718624.1:p.Lys2177Arg
XR_949941.1:n.6938A>G
XM_017017780.1:c.6734A>G	XP_016873269.1:p.Lys2245Arg
XM_017017784.1:c.6617A>G	XP_016873273.1:p.Lys2206Arg
XM_017017788.1:c.6620A>G	XP_016873277.1:p.Lys2207Arg
XR_001747885.1:n.6723A>G
XR_001747887.1:n.6709A>G
NM_000260.4:c.6644A>G MANE Select	NP_000251.3:p.Lys2215Arg
NM_001127180.2:c.6524A>G	NP_001120652.1:p.Lys2175Arg
NM_001369365.1:c.6497A>G	NP_001356294.1:p.Lys2166Arg