Canonical Allele Identifier: CA381934688

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2971792
• ClinVar RCV Id: RCV003832854
• gnomAD v4: 11-77208789-T-A
• MyVariant Identifiers: chr11:g.76919834T>A (hg19) ; chr11:g.77208789T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208789T>A , CM000673.2:g.77208789T>A	GRCh38
NC_000011.9:g.76919834T>A , CM000673.1:g.76919834T>A	GRCh37
NC_000011.8:g.76597482T>A	NCBI36
NG_009086.1:g.85525T>A
NG_009086.2:g.85544T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6037T>A MANE Select	ENSP00000386331.3:p.Phe2013Ile
ENST00000670577.1:c.3838T>A
ENST00000409619.6:c.5890T>A	ENSP00000386635.2:p.Phe1964Ile
ENST00000409709.7:c.6037T>A	ENSP00000386331.3:p.Phe2013Ile
ENST00000458169.2:c.3463T>A	ENSP00000417017.2:p.Phe1155Ile
ENST00000458637.6:c.5923T>A	ENSP00000392185.2:p.Phe1975Ile
ENST00000481328.7:n.3573T>A
ENST00000605744.1:n.951T>A
NM_000260.3:c.6037T>A	NP_000251.3:p.Phe2013Ile
NM_001127180.1:c.5923T>A	NP_001120652.1:p.Phe1975Ile
XM_005274012.2:c.5920T>A	XP_005274069.1:p.Phe1974Ile
XM_006718558.2:c.6028T>A	XP_006718621.1:p.Phe2010Ile
XM_006718559.2:c.5923T>A	XP_006718622.1:p.Phe1975Ile
XM_006718560.2:c.5920T>A	XP_006718623.1:p.Phe1974Ile
XM_006718561.2:c.5923T>A	XP_006718624.1:p.Phe1975Ile
XM_011545044.1:c.6037T>A	XP_011543346.1:p.Phe2013Ile
XM_011545045.1:c.6031T>A	XP_011543347.1:p.Phe2011Ile
XM_011545046.1:c.6004T>A	XP_011543348.1:p.Phe2002Ile
XM_011545047.1:c.5941T>A	XP_011543349.1:p.Phe1981Ile
XM_011545048.1:c.5812T>A	XP_011543350.1:p.Phe1938Ile
XM_011545049.1:c.5800T>A	XP_011543351.1:p.Phe1934Ile
XM_011545050.1:c.5773T>A	XP_011543352.1:p.Phe1925Ile
XM_011545051.1:c.6037T>A	XP_011543353.1:p.Phe2013Ile
XR_949938.1:n.6357T>A
XR_949941.1:n.6331T>A
XM_011545044.2:c.6037T>A	XP_011543346.1:p.Phe2013Ile
XM_011545046.2:c.6127T>A	XP_011543348.2:p.Phe2043Ile
XM_011545050.2:c.5773T>A	XP_011543352.1:p.Phe1925Ile
XM_017017778.1:c.6121T>A	XP_016873267.1:p.Phe2041Ile
XM_017017779.1:c.6118T>A	XP_016873268.1:p.Phe2040Ile
XM_017017780.1:c.6127T>A	XP_016873269.1:p.Phe2043Ile
XM_017017781.1:c.6031T>A	XP_016873270.1:p.Phe2011Ile
XM_017017782.1:c.6013T>A	XP_016873271.1:p.Phe2005Ile
XM_017017783.1:c.6010T>A	XP_016873272.1:p.Phe2004Ile
XM_017017784.1:c.6010T>A	XP_016873273.1:p.Phe2004Ile
XM_017017785.1:c.5890T>A	XP_016873274.1:p.Phe1964Ile
XM_017017786.1:c.6127T>A	XP_016873275.1:p.Phe2043Ile
XM_017017788.1:c.6013T>A	XP_016873277.1:p.Phe2005Ile
XR_001747885.1:n.6116T>A
XR_001747886.1:n.6057T>A
XR_001747887.1:n.6102T>A
NM_000260.4:c.6037T>A MANE Select	NP_000251.3:p.Phe2013Ile
NM_001127180.2:c.5923T>A	NP_001120652.1:p.Phe1975Ile
NM_001369365.1:c.5890T>A	NP_001356294.1:p.Phe1964Ile