Canonical Allele Identifier: CA381953300

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77206161C>T , CM000673.2:g.77206161C>T	GRCh38
NC_000011.9:g.76917206C>T , CM000673.1:g.76917206C>T	GRCh37
NC_000011.8:g.76594854C>T	NCBI36
NG_009086.1:g.82897C>T
NG_009086.2:g.82916C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5701C>T MANE Select	NP_000251.3:p.Gln1901Ter
ENST00000409709.9:c.5701C>T MANE Select	ENSP00000386331.3:p.Gln1901Ter
NM_000260.3:c.5701C>T	NP_000251.3:p.Gln1901Ter
NM_001127180.1:c.5587C>T	NP_001120652.1:p.Gln1863Ter
NM_001127180.2:c.5587C>T	NP_001120652.1:p.Gln1863Ter
NM_001369365.1:c.5554C>T	NP_001356294.1:p.Gln1852Ter
ENST00000409619.6:c.5554C>T	ENSP00000386635.2:p.Gln1852Ter
ENST00000409709.7:c.5701C>T	ENSP00000386331.3:p.Gln1901Ter
ENST00000458169.2:c.3127C>T	ENSP00000417017.2:p.Gln1043Ter
ENST00000458637.6:c.5587C>T	ENSP00000392185.2:p.Gln1863Ter
ENST00000481328.7:n.3237C>T
ENST00000605744.1:n.322C>T
ENST00000670577.1:c.3528C>T
XM_005274012.2:c.5584C>T	XP_005274069.1:p.Gln1862Ter
XM_006718558.2:c.5692C>T	XP_006718621.1:p.Gln1898Ter
XM_006718559.2:c.5587C>T	XP_006718622.1:p.Gln1863Ter
XM_006718560.2:c.5584C>T	XP_006718623.1:p.Gln1862Ter
XM_006718561.2:c.5587C>T	XP_006718624.1:p.Gln1863Ter
XM_011545044.1:c.5701C>T	XP_011543346.1:p.Gln1901Ter
XM_011545044.2:c.5701C>T	XP_011543346.1:p.Gln1901Ter
XM_011545045.1:c.5695C>T	XP_011543347.1:p.Gln1899Ter
XM_011545046.1:c.5668C>T	XP_011543348.1:p.Gln1890Ter
XM_011545046.2:c.5791C>T	XP_011543348.2:p.Gln1931Ter
XM_011545047.1:c.5605C>T	XP_011543349.1:p.Gln1869Ter
XM_011545048.1:c.5476C>T	XP_011543350.1:p.Gln1826Ter
XM_011545049.1:c.5464C>T	XP_011543351.1:p.Gln1822Ter
XM_011545050.1:c.5437C>T	XP_011543352.1:p.Gln1813Ter
XM_011545050.2:c.5437C>T	XP_011543352.1:p.Gln1813Ter
XM_011545051.1:c.5701C>T	XP_011543353.1:p.Gln1901Ter
XM_011545052.1:c.*66C>T	XP_011543354.1:n.*66C>T
XM_017017778.1:c.5785C>T	XP_016873267.1:p.Gln1929Ter
XM_017017779.1:c.5782C>T	XP_016873268.1:p.Gln1928Ter
XM_017017780.1:c.5791C>T	XP_016873269.1:p.Gln1931Ter
XM_017017781.1:c.5695C>T	XP_016873270.1:p.Gln1899Ter
XM_017017782.1:c.5677C>T	XP_016873271.1:p.Gln1893Ter
XM_017017783.1:c.5674C>T	XP_016873272.1:p.Gln1892Ter
XM_017017784.1:c.5674C>T	XP_016873273.1:p.Gln1892Ter
XM_017017785.1:c.5554C>T	XP_016873274.1:p.Gln1852Ter
XM_017017786.1:c.5791C>T	XP_016873275.1:p.Gln1931Ter
XM_017017788.1:c.5677C>T	XP_016873277.1:p.Gln1893Ter
XR_001747885.1:n.5806C>T
XR_001747886.1:n.5721C>T
XR_001747887.1:n.5792C>T
XR_949938.1:n.6021C>T
XR_949941.1:n.6021C>T