Canonical Allele Identifier: CA6199105

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213967C>T , CM000673.2:g.77213967C>T	GRCh38
NC_000011.9:g.76925012C>T , CM000673.1:g.76925012C>T	GRCh37
NC_000011.8:g.76602660C>T	NCBI36
NG_009086.1:g.90703C>T
NG_009086.2:g.90722C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6546C>T MANE Select	NP_000251.3:p.Cys2182=
ENST00000409709.9:c.6546C>T MANE Select	ENSP00000386331.3:p.Cys2182=
NM_000260.3:c.6546C>T	NP_000251.3:p.Cys2182=
NM_001127180.1:c.6426C>T	NP_001120652.1:p.Cys2142=
NM_001127180.2:c.6426C>T	NP_001120652.1:p.Cys2142=
NM_001369365.1:c.6399C>T	NP_001356294.1:p.Cys2133=
ENST00000409619.6:c.6399C>T	ENSP00000386635.2:p.Cys2133=
ENST00000409709.7:c.6546C>T	ENSP00000386331.3:p.Cys2182=
ENST00000458169.2:c.3972C>T	ENSP00000417017.2:p.Cys1324=
ENST00000458637.6:c.6426C>T	ENSP00000392185.2:p.Cys2142=
ENST00000481328.7:n.5096C>T
ENST00000605744.1:n.2060C>T
ENST00000670577.1:c.4347C>T
XM_005274012.2:c.6429C>T	XP_005274069.1:p.Cys2143=
XM_006718561.2:c.6432C>T	XP_006718624.1:p.Cys2144=
XM_017017780.1:c.6636C>T	XP_016873269.1:p.Cys2212=
XM_017017784.1:c.6519C>T	XP_016873273.1:p.Cys2173=
XM_017017788.1:c.6522C>T	XP_016873277.1:p.Cys2174=
XR_001747885.1:n.6625C>T
XR_001747887.1:n.6611C>T
XR_949941.1:n.6840C>T