Canonical Allele Identifier: CA381951997

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203070A>T , CM000673.2:g.77203070A>T	GRCh38
NC_000011.9:g.76914115A>T , CM000673.1:g.76914115A>T	GRCh37
NC_000011.8:g.76591763A>T	NCBI36
NG_009086.1:g.79806A>T
NG_009086.2:g.79825A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5179A>T MANE Select	NP_000251.3:p.Lys1727Ter
ENST00000409709.9:c.5179A>T MANE Select	ENSP00000386331.3:p.Lys1727Ter
NM_000260.3:c.5179A>T	NP_000251.3:p.Lys1727Ter
NM_001127180.1:c.5065A>T	NP_001120652.1:p.Lys1689Ter
NM_001127180.2:c.5065A>T	NP_001120652.1:p.Lys1689Ter
NM_001369365.1:c.5032A>T	NP_001356294.1:p.Lys1678Ter
ENST00000409619.6:c.5032A>T	ENSP00000386635.2:p.Lys1678Ter
ENST00000409709.7:c.5179A>T	ENSP00000386331.3:p.Lys1727Ter
ENST00000458169.2:c.2605A>T	ENSP00000417017.2:p.Lys869Ter
ENST00000458637.6:c.5065A>T	ENSP00000392185.2:p.Lys1689Ter
ENST00000481328.7:n.2715A>T
ENST00000670577.1:c.3020A>T
XM_005274012.2:c.5062A>T	XP_005274069.1:p.Lys1688Ter
XM_006718558.2:c.5170A>T	XP_006718621.1:p.Lys1724Ter
XM_006718559.2:c.5065A>T	XP_006718622.1:p.Lys1689Ter
XM_006718560.2:c.5062A>T	XP_006718623.1:p.Lys1688Ter
XM_006718561.2:c.5065A>T	XP_006718624.1:p.Lys1689Ter
XM_011545044.1:c.5179A>T	XP_011543346.1:p.Lys1727Ter
XM_011545044.2:c.5179A>T	XP_011543346.1:p.Lys1727Ter
XM_011545045.1:c.5173A>T	XP_011543347.1:p.Lys1725Ter
XM_011545046.1:c.5146A>T	XP_011543348.1:p.Lys1716Ter
XM_011545046.2:c.5269A>T	XP_011543348.2:p.Lys1757Ter
XM_011545047.1:c.5083A>T	XP_011543349.1:p.Lys1695Ter
XM_011545048.1:c.4954A>T	XP_011543350.1:p.Lys1652Ter
XM_011545049.1:c.4942A>T	XP_011543351.1:p.Lys1648Ter
XM_011545050.1:c.4915A>T	XP_011543352.1:p.Lys1639Ter
XM_011545050.2:c.4915A>T	XP_011543352.1:p.Lys1639Ter
XM_011545051.1:c.5179A>T	XP_011543353.1:p.Lys1727Ter
XM_011545052.1:c.5179A>T	XP_011543354.1:p.Lys1727Ter
XM_017017778.1:c.5263A>T	XP_016873267.1:p.Lys1755Ter
XM_017017779.1:c.5260A>T	XP_016873268.1:p.Lys1754Ter
XM_017017780.1:c.5269A>T	XP_016873269.1:p.Lys1757Ter
XM_017017781.1:c.5173A>T	XP_016873270.1:p.Lys1725Ter
XM_017017782.1:c.5155A>T	XP_016873271.1:p.Lys1719Ter
XM_017017783.1:c.5152A>T	XP_016873272.1:p.Lys1718Ter
XM_017017784.1:c.5152A>T	XP_016873273.1:p.Lys1718Ter
XM_017017785.1:c.5032A>T	XP_016873274.1:p.Lys1678Ter
XM_017017786.1:c.5269A>T	XP_016873275.1:p.Lys1757Ter
XM_017017788.1:c.5155A>T	XP_016873277.1:p.Lys1719Ter
XR_001747885.1:n.5284A>T
XR_001747886.1:n.5284A>T
XR_001747887.1:n.5284A>T
XR_001747888.1:n.5284A>T
XR_949938.1:n.5499A>T
XR_949941.1:n.5499A>T
XR_949942.1:n.5501A>T