Canonical Allele Identifier: CA224828482

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211904G>A , CM000673.2:g.77211904G>A	GRCh38
NC_000011.9:g.76922949G>A , CM000673.1:g.76922949G>A	GRCh37
NC_000011.8:g.76600597G>A	NCBI36
NG_009086.1:g.88640G>A
NG_009086.2:g.88659G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6321G>A MANE Select	NP_000251.3:p.Trp2107Ter
ENST00000409709.9:c.6321G>A MANE Select	ENSP00000386331.3:p.Trp2107Ter
NM_000260.3:c.6321G>A	NP_000251.3:p.Trp2107Ter
NM_001127180.1:c.6207G>A	NP_001120652.1:p.Trp2069Ter
NM_001127180.2:c.6207G>A	NP_001120652.1:p.Trp2069Ter
NM_001369365.1:c.6174G>A	NP_001356294.1:p.Trp2058Ter
ENST00000409619.6:c.6174G>A	ENSP00000386635.2:p.Trp2058Ter
ENST00000409709.7:c.6321G>A	ENSP00000386331.3:p.Trp2107Ter
ENST00000458169.2:c.3747G>A	ENSP00000417017.2:p.Trp1249Ter
ENST00000458637.6:c.6207G>A	ENSP00000392185.2:p.Trp2069Ter
ENST00000481328.7:n.3857G>A
ENST00000526863.2:n.26-641G>A
ENST00000605744.1:n.1788G>A
ENST00000670577.1:c.4122G>A
XM_005274012.2:c.6204G>A	XP_005274069.1:p.Trp2068Ter
XM_006718558.2:c.6312G>A	XP_006718621.1:p.Trp2104Ter
XM_006718559.2:c.6207G>A	XP_006718622.1:p.Trp2069Ter
XM_006718560.2:c.6204G>A	XP_006718623.1:p.Trp2068Ter
XM_006718561.2:c.6207G>A	XP_006718624.1:p.Trp2069Ter
XM_011545044.1:c.6321G>A	XP_011543346.1:p.Trp2107Ter
XM_011545044.2:c.6321G>A	XP_011543346.1:p.Trp2107Ter
XM_011545045.1:c.6315G>A	XP_011543347.1:p.Trp2105Ter
XM_011545046.1:c.6288G>A	XP_011543348.1:p.Trp2096Ter
XM_011545046.2:c.6411G>A	XP_011543348.2:p.Trp2137Ter
XM_011545047.1:c.6225G>A	XP_011543349.1:p.Trp2075Ter
XM_011545048.1:c.6096G>A	XP_011543350.1:p.Trp2032Ter
XM_011545049.1:c.6084G>A	XP_011543351.1:p.Trp2028Ter
XM_011545050.1:c.6057G>A	XP_011543352.1:p.Trp2019Ter
XM_011545050.2:c.6057G>A	XP_011543352.1:p.Trp2019Ter
XM_011545051.1:c.6321G>A	XP_011543353.1:p.Trp2107Ter
XM_017017778.1:c.6405G>A	XP_016873267.1:p.Trp2135Ter
XM_017017779.1:c.6402G>A	XP_016873268.1:p.Trp2134Ter
XM_017017780.1:c.6411G>A	XP_016873269.1:p.Trp2137Ter
XM_017017781.1:c.6315G>A	XP_016873270.1:p.Trp2105Ter
XM_017017782.1:c.6297G>A	XP_016873271.1:p.Trp2099Ter
XM_017017783.1:c.6294G>A	XP_016873272.1:p.Trp2098Ter
XM_017017784.1:c.6294G>A	XP_016873273.1:p.Trp2098Ter
XM_017017785.1:c.6174G>A	XP_016873274.1:p.Trp2058Ter
XM_017017786.1:c.6411G>A	XP_016873275.1:p.Trp2137Ter
XM_017017788.1:c.6297G>A	XP_016873277.1:p.Trp2099Ter
XR_001747885.1:n.6400G>A
XR_001747887.1:n.6386G>A
XR_949938.1:n.6641G>A
XR_949941.1:n.6615G>A