Canonical Allele Identifier: CA381952343

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203166A>T , CM000673.2:g.77203166A>T	GRCh38
NC_000011.9:g.76914211A>T , CM000673.1:g.76914211A>T	GRCh37
NC_000011.8:g.76591859A>T	NCBI36
NG_009086.1:g.79902A>T
NG_009086.2:g.79921A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5275A>T MANE Select	ENSP00000386331.3:p.Lys1759Ter
ENST00000670577.1:c.3116A>T
ENST00000409619.6:c.5128A>T	ENSP00000386635.2:p.Lys1710Ter
ENST00000409709.7:c.5275A>T	ENSP00000386331.3:p.Lys1759Ter
ENST00000458169.2:c.2701A>T	ENSP00000417017.2:p.Lys901Ter
ENST00000458637.6:c.5161A>T	ENSP00000392185.2:p.Lys1721Ter
ENST00000481328.7:n.2811A>T
NM_000260.3:c.5275A>T	NP_000251.3:p.Lys1759Ter
NM_001127180.1:c.5161A>T	NP_001120652.1:p.Lys1721Ter
XM_005274012.2:c.5158A>T	XP_005274069.1:p.Lys1720Ter
XM_006718558.2:c.5266A>T	XP_006718621.1:p.Lys1756Ter
XM_006718559.2:c.5161A>T	XP_006718622.1:p.Lys1721Ter
XM_006718560.2:c.5158A>T	XP_006718623.1:p.Lys1720Ter
XM_006718561.2:c.5161A>T	XP_006718624.1:p.Lys1721Ter
XM_011545044.1:c.5275A>T	XP_011543346.1:p.Lys1759Ter
XM_011545045.1:c.5269A>T	XP_011543347.1:p.Lys1757Ter
XM_011545046.1:c.5242A>T	XP_011543348.1:p.Lys1748Ter
XM_011545047.1:c.5179A>T	XP_011543349.1:p.Lys1727Ter
XM_011545048.1:c.5050A>T	XP_011543350.1:p.Lys1684Ter
XM_011545049.1:c.5038A>T	XP_011543351.1:p.Lys1680Ter
XM_011545050.1:c.5011A>T	XP_011543352.1:p.Lys1671Ter
XM_011545051.1:c.5275A>T	XP_011543353.1:p.Lys1759Ter
XM_011545052.1:c.5275A>T	XP_011543354.1:p.Lys1759Ter
XR_949938.1:n.5595A>T
XR_949941.1:n.5595A>T
XR_949942.1:n.5597A>T
XM_011545044.2:c.5275A>T	XP_011543346.1:p.Lys1759Ter
XM_011545046.2:c.5365A>T	XP_011543348.2:p.Lys1789Ter
XM_011545050.2:c.5011A>T	XP_011543352.1:p.Lys1671Ter
XM_017017778.1:c.5359A>T	XP_016873267.1:p.Lys1787Ter
XM_017017779.1:c.5356A>T	XP_016873268.1:p.Lys1786Ter
XM_017017780.1:c.5365A>T	XP_016873269.1:p.Lys1789Ter
XM_017017781.1:c.5269A>T	XP_016873270.1:p.Lys1757Ter
XM_017017782.1:c.5251A>T	XP_016873271.1:p.Lys1751Ter
XM_017017783.1:c.5248A>T	XP_016873272.1:p.Lys1750Ter
XM_017017784.1:c.5248A>T	XP_016873273.1:p.Lys1750Ter
XM_017017785.1:c.5128A>T	XP_016873274.1:p.Lys1710Ter
XM_017017786.1:c.5365A>T	XP_016873275.1:p.Lys1789Ter
XM_017017788.1:c.5251A>T	XP_016873277.1:p.Lys1751Ter
XR_001747885.1:n.5380A>T
XR_001747886.1:n.5380A>T
XR_001747887.1:n.5380A>T
XR_001747888.1:n.5380A>T
NM_000260.4:c.5275A>T MANE Select	NP_000251.3:p.Lys1759Ter
NM_001127180.2:c.5161A>T	NP_001120652.1:p.Lys1721Ter
NM_001369365.1:c.5128A>T	NP_001356294.1:p.Lys1710Ter