Canonical Allele Identifier: CA381935409

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211152-G-A
• MyVariant Identifiers: chr11:g.76922197G>A (hg19) ; chr11:g.77211152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211152G>A , CM000673.2:g.77211152G>A	GRCh38
NC_000011.9:g.76922197G>A , CM000673.1:g.76922197G>A	GRCh37
NC_000011.8:g.76599845G>A	NCBI36
NG_009086.1:g.87888G>A
NG_009086.2:g.87907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6052G>A MANE Select	ENSP00000386331.3:p.Glu2018Lys
ENST00000670577.1:c.3853G>A
ENST00000409619.6:c.5905G>A	ENSP00000386635.2:p.Glu1969Lys
ENST00000409709.7:c.6052G>A	ENSP00000386331.3:p.Glu2018Lys
ENST00000458169.2:c.3478G>A	ENSP00000417017.2:p.Glu1160Lys
ENST00000458637.6:c.5938G>A	ENSP00000392185.2:p.Glu1980Lys
ENST00000481328.7:n.3588G>A
ENST00000526863.2:n.25+241G>A
ENST00000605744.1:n.1519G>A
NM_000260.3:c.6052G>A	NP_000251.3:p.Glu2018Lys
NM_001127180.1:c.5938G>A	NP_001120652.1:p.Glu1980Lys
XM_005274012.2:c.5935G>A	XP_005274069.1:p.Glu1979Lys
XM_006718558.2:c.6043G>A	XP_006718621.1:p.Glu2015Lys
XM_006718559.2:c.5938G>A	XP_006718622.1:p.Glu1980Lys
XM_006718560.2:c.5935G>A	XP_006718623.1:p.Glu1979Lys
XM_006718561.2:c.5938G>A	XP_006718624.1:p.Glu1980Lys
XM_011545044.1:c.6052G>A	XP_011543346.1:p.Glu2018Lys
XM_011545045.1:c.6046G>A	XP_011543347.1:p.Glu2016Lys
XM_011545046.1:c.6019G>A	XP_011543348.1:p.Glu2007Lys
XM_011545047.1:c.5956G>A	XP_011543349.1:p.Glu1986Lys
XM_011545048.1:c.5827G>A	XP_011543350.1:p.Glu1943Lys
XM_011545049.1:c.5815G>A	XP_011543351.1:p.Glu1939Lys
XM_011545050.1:c.5788G>A	XP_011543352.1:p.Glu1930Lys
XM_011545051.1:c.6052G>A	XP_011543353.1:p.Glu2018Lys
XR_949938.1:n.6372G>A
XR_949941.1:n.6346G>A
XM_011545044.2:c.6052G>A	XP_011543346.1:p.Glu2018Lys
XM_011545046.2:c.6142G>A	XP_011543348.2:p.Glu2048Lys
XM_011545050.2:c.5788G>A	XP_011543352.1:p.Glu1930Lys
XM_017017778.1:c.6136G>A	XP_016873267.1:p.Glu2046Lys
XM_017017779.1:c.6133G>A	XP_016873268.1:p.Glu2045Lys
XM_017017780.1:c.6142G>A	XP_016873269.1:p.Glu2048Lys
XM_017017781.1:c.6046G>A	XP_016873270.1:p.Glu2016Lys
XM_017017782.1:c.6028G>A	XP_016873271.1:p.Glu2010Lys
XM_017017783.1:c.6025G>A	XP_016873272.1:p.Glu2009Lys
XM_017017784.1:c.6025G>A	XP_016873273.1:p.Glu2009Lys
XM_017017785.1:c.5905G>A	XP_016873274.1:p.Glu1969Lys
XM_017017786.1:c.6142G>A	XP_016873275.1:p.Glu2048Lys
XM_017017788.1:c.6028G>A	XP_016873277.1:p.Glu2010Lys
XR_001747885.1:n.6131G>A
XR_001747886.1:n.6072G>A
XR_001747887.1:n.6117G>A
NM_000260.4:c.6052G>A MANE Select	NP_000251.3:p.Glu2018Lys
NM_001127180.2:c.5938G>A	NP_001120652.1:p.Glu1980Lys
NM_001369365.1:c.5905G>A	NP_001356294.1:p.Glu1969Lys