Canonical Allele Identifier: CA224854972

Gene: MYO7A

Linked Data

• dbSNP Id: rs958153438
• gnomAD v2: 11-76918343-G-C
• gnomAD v3: 11-77207298-G-C
• gnomAD v4: 11-77207298-G-C
• MyVariant Identifiers: chr11:g.76918343G>C (hg19) ; chr11:g.77207298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207298G>C , CM000673.2:g.77207298G>C	GRCh38
NC_000011.9:g.76918343G>C , CM000673.1:g.76918343G>C	GRCh37
NC_000011.8:g.76595991G>C	NCBI36
NG_009086.1:g.84034G>C
NG_009086.2:g.84053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5752G>C MANE Select	ENSP00000386331.3:p.Val1918Leu
ENST00000670577.1:c.3579G>C
ENST00000409619.6:c.5605G>C	ENSP00000386635.2:p.Val1869Leu
ENST00000409709.7:c.5752G>C	ENSP00000386331.3:p.Val1918Leu
ENST00000458169.2:c.3178G>C	ENSP00000417017.2:p.Val1060Leu
ENST00000458637.6:c.5638G>C	ENSP00000392185.2:p.Val1880Leu
ENST00000481328.7:n.3288G>C
ENST00000605744.1:n.666G>C
NM_000260.3:c.5752G>C	NP_000251.3:p.Val1918Leu
NM_001127180.1:c.5638G>C	NP_001120652.1:p.Val1880Leu
XM_005274012.2:c.5635G>C	XP_005274069.1:p.Val1879Leu
XM_006718558.2:c.5743G>C	XP_006718621.1:p.Val1915Leu
XM_006718559.2:c.5638G>C	XP_006718622.1:p.Val1880Leu
XM_006718560.2:c.5635G>C	XP_006718623.1:p.Val1879Leu
XM_006718561.2:c.5638G>C	XP_006718624.1:p.Val1880Leu
XM_011545044.1:c.5752G>C	XP_011543346.1:p.Val1918Leu
XM_011545045.1:c.5746G>C	XP_011543347.1:p.Val1916Leu
XM_011545046.1:c.5719G>C	XP_011543348.1:p.Val1907Leu
XM_011545047.1:c.5656G>C	XP_011543349.1:p.Val1886Leu
XM_011545048.1:c.5527G>C	XP_011543350.1:p.Val1843Leu
XM_011545049.1:c.5515G>C	XP_011543351.1:p.Val1839Leu
XM_011545050.1:c.5488G>C	XP_011543352.1:p.Val1830Leu
XM_011545051.1:c.5752G>C	XP_011543353.1:p.Val1918Leu
XR_949938.1:n.6072G>C
XR_949941.1:n.6072G>C
XM_011545044.2:c.5752G>C	XP_011543346.1:p.Val1918Leu
XM_011545046.2:c.5842G>C	XP_011543348.2:p.Val1948Leu
XM_011545050.2:c.5488G>C	XP_011543352.1:p.Val1830Leu
XM_017017778.1:c.5836G>C	XP_016873267.1:p.Val1946Leu
XM_017017779.1:c.5833G>C	XP_016873268.1:p.Val1945Leu
XM_017017780.1:c.5842G>C	XP_016873269.1:p.Val1948Leu
XM_017017781.1:c.5746G>C	XP_016873270.1:p.Val1916Leu
XM_017017782.1:c.5728G>C	XP_016873271.1:p.Val1910Leu
XM_017017783.1:c.5725G>C	XP_016873272.1:p.Val1909Leu
XM_017017784.1:c.5725G>C	XP_016873273.1:p.Val1909Leu
XM_017017785.1:c.5605G>C	XP_016873274.1:p.Val1869Leu
XM_017017786.1:c.5842G>C	XP_016873275.1:p.Val1948Leu
XM_017017788.1:c.5728G>C	XP_016873277.1:p.Val1910Leu
XR_001747885.1:n.5857G>C
XR_001747886.1:n.5772G>C
XR_001747887.1:n.5843G>C
NM_000260.4:c.5752G>C MANE Select	NP_000251.3:p.Val1918Leu
NM_001127180.2:c.5638G>C	NP_001120652.1:p.Val1880Leu
NM_001369365.1:c.5605G>C	NP_001356294.1:p.Val1869Leu