Canonical Allele Identifier: CA132428

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211823C>T , CM000673.2:g.77211823C>T	GRCh38
NC_000011.9:g.76922868C>T , CM000673.1:g.76922868C>T	GRCh37
NC_000011.8:g.76600516C>T	NCBI36
NG_009086.1:g.88559C>T
NG_009086.2:g.88578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6240C>T MANE Select	ENSP00000386331.3:p.Ser2080=
ENST00000670577.1:c.4041C>T
ENST00000409619.6:c.6093C>T	ENSP00000386635.2:p.Ser2031=
ENST00000409709.7:c.6240C>T	ENSP00000386331.3:p.Ser2080=
ENST00000458169.2:c.3666C>T	ENSP00000417017.2:p.Ser1222=
ENST00000458637.6:c.6126C>T	ENSP00000392185.2:p.Ser2042=
ENST00000481328.7:n.3776C>T
ENST00000526863.2:n.26-722C>T
ENST00000605744.1:n.1707C>T
NM_000260.3:c.6240C>T	NP_000251.3:p.Ser2080=
NM_001127180.1:c.6126C>T	NP_001120652.1:p.Ser2042=
XM_005274012.2:c.6123C>T	XP_005274069.1:p.Ser2041=
XM_006718558.2:c.6231C>T	XP_006718621.1:p.Ser2077=
XM_006718559.2:c.6126C>T	XP_006718622.1:p.Ser2042=
XM_006718560.2:c.6123C>T	XP_006718623.1:p.Ser2041=
XM_006718561.2:c.6126C>T	XP_006718624.1:p.Ser2042=
XM_011545044.1:c.6240C>T	XP_011543346.1:p.Ser2080=
XM_011545045.1:c.6234C>T	XP_011543347.1:p.Ser2078=
XM_011545046.1:c.6207C>T	XP_011543348.1:p.Ser2069=
XM_011545047.1:c.6144C>T	XP_011543349.1:p.Ser2048=
XM_011545048.1:c.6015C>T	XP_011543350.1:p.Ser2005=
XM_011545049.1:c.6003C>T	XP_011543351.1:p.Ser2001=
XM_011545050.1:c.5976C>T	XP_011543352.1:p.Ser1992=
XM_011545051.1:c.6240C>T	XP_011543353.1:p.Ser2080=
XR_949938.1:n.6560C>T
XR_949941.1:n.6534C>T
XM_011545044.2:c.6240C>T	XP_011543346.1:p.Ser2080=
XM_011545046.2:c.6330C>T	XP_011543348.2:p.Ser2110=
XM_011545050.2:c.5976C>T	XP_011543352.1:p.Ser1992=
XM_017017778.1:c.6324C>T	XP_016873267.1:p.Ser2108=
XM_017017779.1:c.6321C>T	XP_016873268.1:p.Ser2107=
XM_017017780.1:c.6330C>T	XP_016873269.1:p.Ser2110=
XM_017017781.1:c.6234C>T	XP_016873270.1:p.Ser2078=
XM_017017782.1:c.6216C>T	XP_016873271.1:p.Ser2072=
XM_017017783.1:c.6213C>T	XP_016873272.1:p.Ser2071=
XM_017017784.1:c.6213C>T	XP_016873273.1:p.Ser2071=
XM_017017785.1:c.6093C>T	XP_016873274.1:p.Ser2031=
XM_017017786.1:c.6330C>T	XP_016873275.1:p.Ser2110=
XM_017017788.1:c.6216C>T	XP_016873277.1:p.Ser2072=
XR_001747885.1:n.6319C>T
XR_001747887.1:n.6305C>T
NM_000260.4:c.6240C>T MANE Select	NP_000251.3:p.Ser2080=
NM_001127180.2:c.6126C>T	NP_001120652.1:p.Ser2042=
NM_001369365.1:c.6093C>T	NP_001356294.1:p.Ser2031=