Canonical Allele Identifier: CA381951822

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77202402G>T , CM000673.2:g.77202402G>T	GRCh38
NC_000011.9:g.76913447G>T , CM000673.1:g.76913447G>T	GRCh37
NC_000011.8:g.76591095G>T	NCBI36
NG_009086.1:g.79138G>T
NG_009086.2:g.79157G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5146G>T MANE Select	NP_000251.3:p.Glu1716Ter
ENST00000409709.9:c.5146G>T MANE Select	ENSP00000386331.3:p.Glu1716Ter
NM_000260.3:c.5146G>T	NP_000251.3:p.Glu1716Ter
NM_001127180.1:c.5032G>T	NP_001120652.1:p.Glu1678Ter
NM_001127180.2:c.5032G>T	NP_001120652.1:p.Glu1678Ter
NM_001369365.1:c.4999G>T	NP_001356294.1:p.Glu1667Ter
ENST00000409619.6:c.4999G>T	ENSP00000386635.2:p.Glu1667Ter
ENST00000409709.7:c.5146G>T	ENSP00000386331.3:p.Glu1716Ter
ENST00000458169.2:c.2572G>T	ENSP00000417017.2:p.Glu858Ter
ENST00000458637.6:c.5032G>T	ENSP00000392185.2:p.Glu1678Ter
ENST00000481328.7:n.2682G>T
ENST00000670577.1:c.2987G>T
XM_005274012.2:c.5029G>T	XP_005274069.1:p.Glu1677Ter
XM_006718558.2:c.5137G>T	XP_006718621.1:p.Glu1713Ter
XM_006718559.2:c.5032G>T	XP_006718622.1:p.Glu1678Ter
XM_006718560.2:c.5029G>T	XP_006718623.1:p.Glu1677Ter
XM_006718561.2:c.5032G>T	XP_006718624.1:p.Glu1678Ter
XM_011545044.1:c.5146G>T	XP_011543346.1:p.Glu1716Ter
XM_011545044.2:c.5146G>T	XP_011543346.1:p.Glu1716Ter
XM_011545045.1:c.5140G>T	XP_011543347.1:p.Glu1714Ter
XM_011545046.1:c.5113G>T	XP_011543348.1:p.Glu1705Ter
XM_011545046.2:c.5236G>T	XP_011543348.2:p.Glu1746Ter
XM_011545047.1:c.5050G>T	XP_011543349.1:p.Glu1684Ter
XM_011545048.1:c.4921G>T	XP_011543350.1:p.Glu1641Ter
XM_011545049.1:c.4909G>T	XP_011543351.1:p.Glu1637Ter
XM_011545050.1:c.4882G>T	XP_011543352.1:p.Glu1628Ter
XM_011545050.2:c.4882G>T	XP_011543352.1:p.Glu1628Ter
XM_011545051.1:c.5146G>T	XP_011543353.1:p.Glu1716Ter
XM_011545052.1:c.5146G>T	XP_011543354.1:p.Glu1716Ter
XM_017017778.1:c.5230G>T	XP_016873267.1:p.Glu1744Ter
XM_017017779.1:c.5227G>T	XP_016873268.1:p.Glu1743Ter
XM_017017780.1:c.5236G>T	XP_016873269.1:p.Glu1746Ter
XM_017017781.1:c.5140G>T	XP_016873270.1:p.Glu1714Ter
XM_017017782.1:c.5122G>T	XP_016873271.1:p.Glu1708Ter
XM_017017783.1:c.5119G>T	XP_016873272.1:p.Glu1707Ter
XM_017017784.1:c.5119G>T	XP_016873273.1:p.Glu1707Ter
XM_017017785.1:c.4999G>T	XP_016873274.1:p.Glu1667Ter
XM_017017786.1:c.5236G>T	XP_016873275.1:p.Glu1746Ter
XM_017017788.1:c.5122G>T	XP_016873277.1:p.Glu1708Ter
XR_001747885.1:n.5251G>T
XR_001747886.1:n.5251G>T
XR_001747887.1:n.5251G>T
XR_001747888.1:n.5251G>T
XR_949938.1:n.5466G>T
XR_949941.1:n.5466G>T
XR_949942.1:n.5468G>T