Canonical Allele Identifier: CA381935419

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211153-A-T
• MyVariant Identifiers: chr11:g.76922198A>T (hg19) ; chr11:g.77211153A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211153A>T , CM000673.2:g.77211153A>T	GRCh38
NC_000011.9:g.76922198A>T , CM000673.1:g.76922198A>T	GRCh37
NC_000011.8:g.76599846A>T	NCBI36
NG_009086.1:g.87889A>T
NG_009086.2:g.87908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6053A>T MANE Select	ENSP00000386331.3:p.Glu2018Val
ENST00000670577.1:c.3854A>T
ENST00000409619.6:c.5906A>T	ENSP00000386635.2:p.Glu1969Val
ENST00000409709.7:c.6053A>T	ENSP00000386331.3:p.Glu2018Val
ENST00000458169.2:c.3479A>T	ENSP00000417017.2:p.Glu1160Val
ENST00000458637.6:c.5939A>T	ENSP00000392185.2:p.Glu1980Val
ENST00000481328.7:n.3589A>T
ENST00000526863.2:n.25+242A>T
ENST00000605744.1:n.1520A>T
NM_000260.3:c.6053A>T	NP_000251.3:p.Glu2018Val
NM_001127180.1:c.5939A>T	NP_001120652.1:p.Glu1980Val
XM_005274012.2:c.5936A>T	XP_005274069.1:p.Glu1979Val
XM_006718558.2:c.6044A>T	XP_006718621.1:p.Glu2015Val
XM_006718559.2:c.5939A>T	XP_006718622.1:p.Glu1980Val
XM_006718560.2:c.5936A>T	XP_006718623.1:p.Glu1979Val
XM_006718561.2:c.5939A>T	XP_006718624.1:p.Glu1980Val
XM_011545044.1:c.6053A>T	XP_011543346.1:p.Glu2018Val
XM_011545045.1:c.6047A>T	XP_011543347.1:p.Glu2016Val
XM_011545046.1:c.6020A>T	XP_011543348.1:p.Glu2007Val
XM_011545047.1:c.5957A>T	XP_011543349.1:p.Glu1986Val
XM_011545048.1:c.5828A>T	XP_011543350.1:p.Glu1943Val
XM_011545049.1:c.5816A>T	XP_011543351.1:p.Glu1939Val
XM_011545050.1:c.5789A>T	XP_011543352.1:p.Glu1930Val
XM_011545051.1:c.6053A>T	XP_011543353.1:p.Glu2018Val
XR_949938.1:n.6373A>T
XR_949941.1:n.6347A>T
XM_011545044.2:c.6053A>T	XP_011543346.1:p.Glu2018Val
XM_011545046.2:c.6143A>T	XP_011543348.2:p.Glu2048Val
XM_011545050.2:c.5789A>T	XP_011543352.1:p.Glu1930Val
XM_017017778.1:c.6137A>T	XP_016873267.1:p.Glu2046Val
XM_017017779.1:c.6134A>T	XP_016873268.1:p.Glu2045Val
XM_017017780.1:c.6143A>T	XP_016873269.1:p.Glu2048Val
XM_017017781.1:c.6047A>T	XP_016873270.1:p.Glu2016Val
XM_017017782.1:c.6029A>T	XP_016873271.1:p.Glu2010Val
XM_017017783.1:c.6026A>T	XP_016873272.1:p.Glu2009Val
XM_017017784.1:c.6026A>T	XP_016873273.1:p.Glu2009Val
XM_017017785.1:c.5906A>T	XP_016873274.1:p.Glu1969Val
XM_017017786.1:c.6143A>T	XP_016873275.1:p.Glu2048Val
XM_017017788.1:c.6029A>T	XP_016873277.1:p.Glu2010Val
XR_001747885.1:n.6132A>T
XR_001747886.1:n.6073A>T
XR_001747887.1:n.6118A>T
NM_000260.4:c.6053A>T MANE Select	NP_000251.3:p.Glu2018Val
NM_001127180.2:c.5939A>T	NP_001120652.1:p.Glu1980Val
NM_001369365.1:c.5906A>T	NP_001356294.1:p.Glu1969Val