Canonical Allele Identifier: CA381951992

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77203068C>T , CM000673.2:g.77203068C>T	GRCh38
NC_000011.9:g.76914113C>T , CM000673.1:g.76914113C>T	GRCh37
NC_000011.8:g.76591761C>T	NCBI36
NG_009086.1:g.79804C>T
NG_009086.2:g.79823C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5177C>T MANE Select	NP_000251.3:p.Pro1726Leu
ENST00000409709.9:c.5177C>T MANE Select	ENSP00000386331.3:p.Pro1726Leu
NM_000260.3:c.5177C>T	NP_000251.3:p.Pro1726Leu
NM_001127180.1:c.5063C>T	NP_001120652.1:p.Pro1688Leu
NM_001127180.2:c.5063C>T	NP_001120652.1:p.Pro1688Leu
NM_001369365.1:c.5030C>T	NP_001356294.1:p.Pro1677Leu
ENST00000409619.6:c.5030C>T	ENSP00000386635.2:p.Pro1677Leu
ENST00000409709.7:c.5177C>T	ENSP00000386331.3:p.Pro1726Leu
ENST00000458169.2:c.2603C>T	ENSP00000417017.2:p.Pro868Leu
ENST00000458637.6:c.5063C>T	ENSP00000392185.2:p.Pro1688Leu
ENST00000481328.7:n.2713C>T
ENST00000670577.1:c.3018C>T
XM_005274012.2:c.5060C>T	XP_005274069.1:p.Pro1687Leu
XM_006718558.2:c.5168C>T	XP_006718621.1:p.Pro1723Leu
XM_006718559.2:c.5063C>T	XP_006718622.1:p.Pro1688Leu
XM_006718560.2:c.5060C>T	XP_006718623.1:p.Pro1687Leu
XM_006718561.2:c.5063C>T	XP_006718624.1:p.Pro1688Leu
XM_011545044.1:c.5177C>T	XP_011543346.1:p.Pro1726Leu
XM_011545044.2:c.5177C>T	XP_011543346.1:p.Pro1726Leu
XM_011545045.1:c.5171C>T	XP_011543347.1:p.Pro1724Leu
XM_011545046.1:c.5144C>T	XP_011543348.1:p.Pro1715Leu
XM_011545046.2:c.5267C>T	XP_011543348.2:p.Pro1756Leu
XM_011545047.1:c.5081C>T	XP_011543349.1:p.Pro1694Leu
XM_011545048.1:c.4952C>T	XP_011543350.1:p.Pro1651Leu
XM_011545049.1:c.4940C>T	XP_011543351.1:p.Pro1647Leu
XM_011545050.1:c.4913C>T	XP_011543352.1:p.Pro1638Leu
XM_011545050.2:c.4913C>T	XP_011543352.1:p.Pro1638Leu
XM_011545051.1:c.5177C>T	XP_011543353.1:p.Pro1726Leu
XM_011545052.1:c.5177C>T	XP_011543354.1:p.Pro1726Leu
XM_017017778.1:c.5261C>T	XP_016873267.1:p.Pro1754Leu
XM_017017779.1:c.5258C>T	XP_016873268.1:p.Pro1753Leu
XM_017017780.1:c.5267C>T	XP_016873269.1:p.Pro1756Leu
XM_017017781.1:c.5171C>T	XP_016873270.1:p.Pro1724Leu
XM_017017782.1:c.5153C>T	XP_016873271.1:p.Pro1718Leu
XM_017017783.1:c.5150C>T	XP_016873272.1:p.Pro1717Leu
XM_017017784.1:c.5150C>T	XP_016873273.1:p.Pro1717Leu
XM_017017785.1:c.5030C>T	XP_016873274.1:p.Pro1677Leu
XM_017017786.1:c.5267C>T	XP_016873275.1:p.Pro1756Leu
XM_017017788.1:c.5153C>T	XP_016873277.1:p.Pro1718Leu
XR_001747885.1:n.5282C>T
XR_001747886.1:n.5282C>T
XR_001747887.1:n.5282C>T
XR_001747888.1:n.5282C>T
XR_949938.1:n.5497C>T
XR_949941.1:n.5497C>T
XR_949942.1:n.5499C>T