Canonical Allele Identifier: CA381935791

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211216-C-A
• MyVariant Identifiers: chr11:g.76922261C>A (hg19) ; chr11:g.77211216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211216C>A , CM000673.2:g.77211216C>A	GRCh38
NC_000011.9:g.76922261C>A , CM000673.1:g.76922261C>A	GRCh37
NC_000011.8:g.76599909C>A	NCBI36
NG_009086.1:g.87952C>A
NG_009086.2:g.87971C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6116C>A MANE Select	ENSP00000386331.3:p.Ala2039Glu
ENST00000670577.1:c.3917C>A
ENST00000409619.6:c.5969C>A	ENSP00000386635.2:p.Ala1990Glu
ENST00000409709.7:c.6116C>A	ENSP00000386331.3:p.Ala2039Glu
ENST00000458169.2:c.3542C>A	ENSP00000417017.2:p.Ala1181Glu
ENST00000458637.6:c.6002C>A	ENSP00000392185.2:p.Ala2001Glu
ENST00000481328.7:n.3652C>A
ENST00000526863.2:n.25+305C>A
ENST00000605744.1:n.1583C>A
NM_000260.3:c.6116C>A	NP_000251.3:p.Ala2039Glu
NM_001127180.1:c.6002C>A	NP_001120652.1:p.Ala2001Glu
XM_005274012.2:c.5999C>A	XP_005274069.1:p.Ala2000Glu
XM_006718558.2:c.6107C>A	XP_006718621.1:p.Ala2036Glu
XM_006718559.2:c.6002C>A	XP_006718622.1:p.Ala2001Glu
XM_006718560.2:c.5999C>A	XP_006718623.1:p.Ala2000Glu
XM_006718561.2:c.6002C>A	XP_006718624.1:p.Ala2001Glu
XM_011545044.1:c.6116C>A	XP_011543346.1:p.Ala2039Glu
XM_011545045.1:c.6110C>A	XP_011543347.1:p.Ala2037Glu
XM_011545046.1:c.6083C>A	XP_011543348.1:p.Ala2028Glu
XM_011545047.1:c.6020C>A	XP_011543349.1:p.Ala2007Glu
XM_011545048.1:c.5891C>A	XP_011543350.1:p.Ala1964Glu
XM_011545049.1:c.5879C>A	XP_011543351.1:p.Ala1960Glu
XM_011545050.1:c.5852C>A	XP_011543352.1:p.Ala1951Glu
XM_011545051.1:c.6116C>A	XP_011543353.1:p.Ala2039Glu
XR_949938.1:n.6436C>A
XR_949941.1:n.6410C>A
XM_011545044.2:c.6116C>A	XP_011543346.1:p.Ala2039Glu
XM_011545046.2:c.6206C>A	XP_011543348.2:p.Ala2069Glu
XM_011545050.2:c.5852C>A	XP_011543352.1:p.Ala1951Glu
XM_017017778.1:c.6200C>A	XP_016873267.1:p.Ala2067Glu
XM_017017779.1:c.6197C>A	XP_016873268.1:p.Ala2066Glu
XM_017017780.1:c.6206C>A	XP_016873269.1:p.Ala2069Glu
XM_017017781.1:c.6110C>A	XP_016873270.1:p.Ala2037Glu
XM_017017782.1:c.6092C>A	XP_016873271.1:p.Ala2031Glu
XM_017017783.1:c.6089C>A	XP_016873272.1:p.Ala2030Glu
XM_017017784.1:c.6089C>A	XP_016873273.1:p.Ala2030Glu
XM_017017785.1:c.5969C>A	XP_016873274.1:p.Ala1990Glu
XM_017017786.1:c.6206C>A	XP_016873275.1:p.Ala2069Glu
XM_017017788.1:c.6092C>A	XP_016873277.1:p.Ala2031Glu
XR_001747885.1:n.6195C>A
XR_001747886.1:n.6136C>A
XR_001747887.1:n.6181C>A
NM_000260.4:c.6116C>A MANE Select	NP_000251.3:p.Ala2039Glu
NM_001127180.2:c.6002C>A	NP_001120652.1:p.Ala2001Glu
NM_001369365.1:c.5969C>A	NP_001356294.1:p.Ala1990Glu