Canonical Allele Identifier: CA381953202

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77206115C>A , CM000673.2:g.77206115C>A	GRCh38
NC_000011.9:g.76917160C>A , CM000673.1:g.76917160C>A	GRCh37
NC_000011.8:g.76594808C>A	NCBI36
NG_009086.1:g.82851C>A
NG_009086.2:g.82870C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5655C>A MANE Select	NP_000251.3:p.Tyr1885Ter
ENST00000409709.9:c.5655C>A MANE Select	ENSP00000386331.3:p.Tyr1885Ter
NM_000260.3:c.5655C>A	NP_000251.3:p.Tyr1885Ter
NM_001127180.1:c.5541C>A	NP_001120652.1:p.Tyr1847Ter
NM_001127180.2:c.5541C>A	NP_001120652.1:p.Tyr1847Ter
NM_001369365.1:c.5508C>A	NP_001356294.1:p.Tyr1836Ter
ENST00000409619.6:c.5508C>A	ENSP00000386635.2:p.Tyr1836Ter
ENST00000409709.7:c.5655C>A	ENSP00000386331.3:p.Tyr1885Ter
ENST00000458169.2:c.3081C>A	ENSP00000417017.2:p.Tyr1027Ter
ENST00000458637.6:c.5541C>A	ENSP00000392185.2:p.Tyr1847Ter
ENST00000481328.7:n.3191C>A
ENST00000605744.1:n.276C>A
ENST00000670577.1:c.3482C>A
XM_005274012.2:c.5538C>A	XP_005274069.1:p.Tyr1846Ter
XM_006718558.2:c.5646C>A	XP_006718621.1:p.Tyr1882Ter
XM_006718559.2:c.5541C>A	XP_006718622.1:p.Tyr1847Ter
XM_006718560.2:c.5538C>A	XP_006718623.1:p.Tyr1846Ter
XM_006718561.2:c.5541C>A	XP_006718624.1:p.Tyr1847Ter
XM_011545044.1:c.5655C>A	XP_011543346.1:p.Tyr1885Ter
XM_011545044.2:c.5655C>A	XP_011543346.1:p.Tyr1885Ter
XM_011545045.1:c.5649C>A	XP_011543347.1:p.Tyr1883Ter
XM_011545046.1:c.5622C>A	XP_011543348.1:p.Tyr1874Ter
XM_011545046.2:c.5745C>A	XP_011543348.2:p.Tyr1915Ter
XM_011545047.1:c.5559C>A	XP_011543349.1:p.Tyr1853Ter
XM_011545048.1:c.5430C>A	XP_011543350.1:p.Tyr1810Ter
XM_011545049.1:c.5418C>A	XP_011543351.1:p.Tyr1806Ter
XM_011545050.1:c.5391C>A	XP_011543352.1:p.Tyr1797Ter
XM_011545050.2:c.5391C>A	XP_011543352.1:p.Tyr1797Ter
XM_011545051.1:c.5655C>A	XP_011543353.1:p.Tyr1885Ter
XM_011545052.1:c.*20C>A	XP_011543354.1:n.*20C>A
XM_017017778.1:c.5739C>A	XP_016873267.1:p.Tyr1913Ter
XM_017017779.1:c.5736C>A	XP_016873268.1:p.Tyr1912Ter
XM_017017780.1:c.5745C>A	XP_016873269.1:p.Tyr1915Ter
XM_017017781.1:c.5649C>A	XP_016873270.1:p.Tyr1883Ter
XM_017017782.1:c.5631C>A	XP_016873271.1:p.Tyr1877Ter
XM_017017783.1:c.5628C>A	XP_016873272.1:p.Tyr1876Ter
XM_017017784.1:c.5628C>A	XP_016873273.1:p.Tyr1876Ter
XM_017017785.1:c.5508C>A	XP_016873274.1:p.Tyr1836Ter
XM_017017786.1:c.5745C>A	XP_016873275.1:p.Tyr1915Ter
XM_017017788.1:c.5631C>A	XP_016873277.1:p.Tyr1877Ter
XR_001747885.1:n.5760C>A
XR_001747886.1:n.5675C>A
XR_001747887.1:n.5746C>A
XR_949938.1:n.5975C>A
XR_949941.1:n.5975C>A