Canonical Allele Identifier: CA6199058

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213018A>G , CM000673.2:g.77213018A>G	GRCh38
NC_000011.9:g.76924063A>G , CM000673.1:g.76924063A>G	GRCh37
NC_000011.8:g.76601711A>G	NCBI36
NG_009086.1:g.89754A>G
NG_009086.2:g.89773A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6421A>G MANE Select	NP_000251.3:p.Ile2141Val
ENST00000409709.9:c.6421A>G MANE Select	ENSP00000386331.3:p.Ile2141Val
NM_000260.3:c.6421A>G	NP_000251.3:p.Ile2141Val
NM_001127180.1:c.6301A>G	NP_001120652.1:p.Ile2101Val
NM_001127180.2:c.6301A>G	NP_001120652.1:p.Ile2101Val
NM_001369365.1:c.6274A>G	NP_001356294.1:p.Ile2092Val
ENST00000409619.6:c.6274A>G	ENSP00000386635.2:p.Ile2092Val
ENST00000409709.7:c.6421A>G	ENSP00000386331.3:p.Ile2141Val
ENST00000458169.2:c.3847A>G	ENSP00000417017.2:p.Ile1283Val
ENST00000458637.6:c.6301A>G	ENSP00000392185.2:p.Ile2101Val
ENST00000481328.7:n.4971A>G
ENST00000481532.1:n.484A>G
ENST00000605744.1:n.1935A>G
ENST00000670577.1:c.4222A>G
XM_005274012.2:c.6304A>G	XP_005274069.1:p.Ile2102Val
XM_006718561.2:c.6307A>G	XP_006718624.1:p.Ile2103Val
XM_011545051.1:c.*93A>G	XP_011543353.1:n.*93A>G
XM_017017780.1:c.6511A>G	XP_016873269.1:p.Ile2171Val
XM_017017784.1:c.6394A>G	XP_016873273.1:p.Ile2132Val
XM_017017786.1:c.*93A>G	XP_016873275.1:n.*93A>G
XM_017017788.1:c.6397A>G	XP_016873277.1:p.Ile2133Val
XR_001747885.1:n.6500A>G
XR_001747887.1:n.6486A>G
XR_949941.1:n.6715A>G