Canonical Allele Identifier: CA381952290

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203151C>T , CM000673.2:g.77203151C>T	GRCh38
NC_000011.9:g.76914196C>T , CM000673.1:g.76914196C>T	GRCh37
NC_000011.8:g.76591844C>T	NCBI36
NG_009086.1:g.79887C>T
NG_009086.2:g.79906C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5260C>T MANE Select	NP_000251.3:p.Gln1754Ter
ENST00000409709.9:c.5260C>T MANE Select	ENSP00000386331.3:p.Gln1754Ter
NM_000260.3:c.5260C>T	NP_000251.3:p.Gln1754Ter
NM_001127180.1:c.5146C>T	NP_001120652.1:p.Gln1716Ter
NM_001127180.2:c.5146C>T	NP_001120652.1:p.Gln1716Ter
NM_001369365.1:c.5113C>T	NP_001356294.1:p.Gln1705Ter
ENST00000409619.6:c.5113C>T	ENSP00000386635.2:p.Gln1705Ter
ENST00000409709.7:c.5260C>T	ENSP00000386331.3:p.Gln1754Ter
ENST00000458169.2:c.2686C>T	ENSP00000417017.2:p.Gln896Ter
ENST00000458637.6:c.5146C>T	ENSP00000392185.2:p.Gln1716Ter
ENST00000481328.7:n.2796C>T
ENST00000670577.1:c.3101C>T
XM_005274012.2:c.5143C>T	XP_005274069.1:p.Gln1715Ter
XM_006718558.2:c.5251C>T	XP_006718621.1:p.Gln1751Ter
XM_006718559.2:c.5146C>T	XP_006718622.1:p.Gln1716Ter
XM_006718560.2:c.5143C>T	XP_006718623.1:p.Gln1715Ter
XM_006718561.2:c.5146C>T	XP_006718624.1:p.Gln1716Ter
XM_011545044.1:c.5260C>T	XP_011543346.1:p.Gln1754Ter
XM_011545044.2:c.5260C>T	XP_011543346.1:p.Gln1754Ter
XM_011545045.1:c.5254C>T	XP_011543347.1:p.Gln1752Ter
XM_011545046.1:c.5227C>T	XP_011543348.1:p.Gln1743Ter
XM_011545046.2:c.5350C>T	XP_011543348.2:p.Gln1784Ter
XM_011545047.1:c.5164C>T	XP_011543349.1:p.Gln1722Ter
XM_011545048.1:c.5035C>T	XP_011543350.1:p.Gln1679Ter
XM_011545049.1:c.5023C>T	XP_011543351.1:p.Gln1675Ter
XM_011545050.1:c.4996C>T	XP_011543352.1:p.Gln1666Ter
XM_011545050.2:c.4996C>T	XP_011543352.1:p.Gln1666Ter
XM_011545051.1:c.5260C>T	XP_011543353.1:p.Gln1754Ter
XM_011545052.1:c.5260C>T	XP_011543354.1:p.Gln1754Ter
XM_017017778.1:c.5344C>T	XP_016873267.1:p.Gln1782Ter
XM_017017779.1:c.5341C>T	XP_016873268.1:p.Gln1781Ter
XM_017017780.1:c.5350C>T	XP_016873269.1:p.Gln1784Ter
XM_017017781.1:c.5254C>T	XP_016873270.1:p.Gln1752Ter
XM_017017782.1:c.5236C>T	XP_016873271.1:p.Gln1746Ter
XM_017017783.1:c.5233C>T	XP_016873272.1:p.Gln1745Ter
XM_017017784.1:c.5233C>T	XP_016873273.1:p.Gln1745Ter
XM_017017785.1:c.5113C>T	XP_016873274.1:p.Gln1705Ter
XM_017017786.1:c.5350C>T	XP_016873275.1:p.Gln1784Ter
XM_017017788.1:c.5236C>T	XP_016873277.1:p.Gln1746Ter
XR_001747885.1:n.5365C>T
XR_001747886.1:n.5365C>T
XR_001747887.1:n.5365C>T
XR_001747888.1:n.5365C>T
XR_949938.1:n.5580C>T
XR_949941.1:n.5580C>T
XR_949942.1:n.5582C>T