Canonical Allele Identifier: CA6198988

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211855A>G , CM000673.2:g.77211855A>G	GRCh38
NC_000011.9:g.76922900A>G , CM000673.1:g.76922900A>G	GRCh37
NC_000011.8:g.76600548A>G	NCBI36
NG_009086.1:g.88591A>G
NG_009086.2:g.88610A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6272A>G MANE Select	NP_000251.3:p.Lys2091Arg
ENST00000409709.9:c.6272A>G MANE Select	ENSP00000386331.3:p.Lys2091Arg
NM_000260.3:c.6272A>G	NP_000251.3:p.Lys2091Arg
NM_001127180.1:c.6158A>G	NP_001120652.1:p.Lys2053Arg
NM_001127180.2:c.6158A>G	NP_001120652.1:p.Lys2053Arg
NM_001369365.1:c.6125A>G	NP_001356294.1:p.Lys2042Arg
ENST00000409619.6:c.6125A>G	ENSP00000386635.2:p.Lys2042Arg
ENST00000409709.7:c.6272A>G	ENSP00000386331.3:p.Lys2091Arg
ENST00000458169.2:c.3698A>G	ENSP00000417017.2:p.Lys1233Arg
ENST00000458637.6:c.6158A>G	ENSP00000392185.2:p.Lys2053Arg
ENST00000481328.7:n.3808A>G
ENST00000526863.2:n.26-690A>G
ENST00000605744.1:n.1739A>G
ENST00000670577.1:c.4073A>G
XM_005274012.2:c.6155A>G	XP_005274069.1:p.Lys2052Arg
XM_006718558.2:c.6263A>G	XP_006718621.1:p.Lys2088Arg
XM_006718559.2:c.6158A>G	XP_006718622.1:p.Lys2053Arg
XM_006718560.2:c.6155A>G	XP_006718623.1:p.Lys2052Arg
XM_006718561.2:c.6158A>G	XP_006718624.1:p.Lys2053Arg
XM_011545044.1:c.6272A>G	XP_011543346.1:p.Lys2091Arg
XM_011545044.2:c.6272A>G	XP_011543346.1:p.Lys2091Arg
XM_011545045.1:c.6266A>G	XP_011543347.1:p.Lys2089Arg
XM_011545046.1:c.6239A>G	XP_011543348.1:p.Lys2080Arg
XM_011545046.2:c.6362A>G	XP_011543348.2:p.Lys2121Arg
XM_011545047.1:c.6176A>G	XP_011543349.1:p.Lys2059Arg
XM_011545048.1:c.6047A>G	XP_011543350.1:p.Lys2016Arg
XM_011545049.1:c.6035A>G	XP_011543351.1:p.Lys2012Arg
XM_011545050.1:c.6008A>G	XP_011543352.1:p.Lys2003Arg
XM_011545050.2:c.6008A>G	XP_011543352.1:p.Lys2003Arg
XM_011545051.1:c.6272A>G	XP_011543353.1:p.Lys2091Arg
XM_017017778.1:c.6356A>G	XP_016873267.1:p.Lys2119Arg
XM_017017779.1:c.6353A>G	XP_016873268.1:p.Lys2118Arg
XM_017017780.1:c.6362A>G	XP_016873269.1:p.Lys2121Arg
XM_017017781.1:c.6266A>G	XP_016873270.1:p.Lys2089Arg
XM_017017782.1:c.6248A>G	XP_016873271.1:p.Lys2083Arg
XM_017017783.1:c.6245A>G	XP_016873272.1:p.Lys2082Arg
XM_017017784.1:c.6245A>G	XP_016873273.1:p.Lys2082Arg
XM_017017785.1:c.6125A>G	XP_016873274.1:p.Lys2042Arg
XM_017017786.1:c.6362A>G	XP_016873275.1:p.Lys2121Arg
XM_017017788.1:c.6248A>G	XP_016873277.1:p.Lys2083Arg
XR_001747885.1:n.6351A>G
XR_001747887.1:n.6337A>G
XR_949938.1:n.6592A>G
XR_949941.1:n.6566A>G