Canonical Allele Identifier: CA381953980

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76918372C>A (hg19) ; chr11:g.77207327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207327C>A , CM000673.2:g.77207327C>A	GRCh38
NC_000011.9:g.76918372C>A , CM000673.1:g.76918372C>A	GRCh37
NC_000011.8:g.76596020C>A	NCBI36
NG_009086.1:g.84063C>A
NG_009086.2:g.84082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5781C>A MANE Select	ENSP00000386331.3:p.Phe1927Leu
ENST00000670577.1:c.3608C>A
ENST00000409619.6:c.5634C>A	ENSP00000386635.2:p.Phe1878Leu
ENST00000409709.7:c.5781C>A	ENSP00000386331.3:p.Phe1927Leu
ENST00000458169.2:c.3207C>A	ENSP00000417017.2:p.Phe1069Leu
ENST00000458637.6:c.5667C>A	ENSP00000392185.2:p.Phe1889Leu
ENST00000481328.7:n.3317C>A
ENST00000605744.1:n.695C>A
NM_000260.3:c.5781C>A	NP_000251.3:p.Phe1927Leu
NM_001127180.1:c.5667C>A	NP_001120652.1:p.Phe1889Leu
XM_005274012.2:c.5664C>A	XP_005274069.1:p.Phe1888Leu
XM_006718558.2:c.5772C>A	XP_006718621.1:p.Phe1924Leu
XM_006718559.2:c.5667C>A	XP_006718622.1:p.Phe1889Leu
XM_006718560.2:c.5664C>A	XP_006718623.1:p.Phe1888Leu
XM_006718561.2:c.5667C>A	XP_006718624.1:p.Phe1889Leu
XM_011545044.1:c.5781C>A	XP_011543346.1:p.Phe1927Leu
XM_011545045.1:c.5775C>A	XP_011543347.1:p.Phe1925Leu
XM_011545046.1:c.5748C>A	XP_011543348.1:p.Phe1916Leu
XM_011545047.1:c.5685C>A	XP_011543349.1:p.Phe1895Leu
XM_011545048.1:c.5556C>A	XP_011543350.1:p.Phe1852Leu
XM_011545049.1:c.5544C>A	XP_011543351.1:p.Phe1848Leu
XM_011545050.1:c.5517C>A	XP_011543352.1:p.Phe1839Leu
XM_011545051.1:c.5781C>A	XP_011543353.1:p.Phe1927Leu
XR_949938.1:n.6101C>A
XR_949941.1:n.6101C>A
XM_011545044.2:c.5781C>A	XP_011543346.1:p.Phe1927Leu
XM_011545046.2:c.5871C>A	XP_011543348.2:p.Phe1957Leu
XM_011545050.2:c.5517C>A	XP_011543352.1:p.Phe1839Leu
XM_017017778.1:c.5865C>A	XP_016873267.1:p.Phe1955Leu
XM_017017779.1:c.5862C>A	XP_016873268.1:p.Phe1954Leu
XM_017017780.1:c.5871C>A	XP_016873269.1:p.Phe1957Leu
XM_017017781.1:c.5775C>A	XP_016873270.1:p.Phe1925Leu
XM_017017782.1:c.5757C>A	XP_016873271.1:p.Phe1919Leu
XM_017017783.1:c.5754C>A	XP_016873272.1:p.Phe1918Leu
XM_017017784.1:c.5754C>A	XP_016873273.1:p.Phe1918Leu
XM_017017785.1:c.5634C>A	XP_016873274.1:p.Phe1878Leu
XM_017017786.1:c.5871C>A	XP_016873275.1:p.Phe1957Leu
XM_017017788.1:c.5757C>A	XP_016873277.1:p.Phe1919Leu
XR_001747885.1:n.5886C>A
XR_001747886.1:n.5801C>A
XR_001747887.1:n.5872C>A
NM_000260.4:c.5781C>A MANE Select	NP_000251.3:p.Phe1927Leu
NM_001127180.2:c.5667C>A	NP_001120652.1:p.Phe1889Leu
NM_001369365.1:c.5634C>A	NP_001356294.1:p.Phe1878Leu