Canonical Allele Identifier: CA224854331

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77206107C>T , CM000673.2:g.77206107C>T	GRCh38
NC_000011.9:g.76917152C>T , CM000673.1:g.76917152C>T	GRCh37
NC_000011.8:g.76594800C>T	NCBI36
NG_009086.1:g.82843C>T
NG_009086.2:g.82862C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5647C>T MANE Select	NP_000251.3:p.Arg1883Trp
ENST00000409709.9:c.5647C>T MANE Select	ENSP00000386331.3:p.Arg1883Trp
NM_000260.3:c.5647C>T	NP_000251.3:p.Arg1883Trp
NM_001127180.1:c.5533C>T	NP_001120652.1:p.Arg1845Trp
NM_001127180.2:c.5533C>T	NP_001120652.1:p.Arg1845Trp
NM_001369365.1:c.5500C>T	NP_001356294.1:p.Arg1834Trp
ENST00000409619.6:c.5500C>T	ENSP00000386635.2:p.Arg1834Trp
ENST00000409709.7:c.5647C>T	ENSP00000386331.3:p.Arg1883Trp
ENST00000458169.2:c.3073C>T	ENSP00000417017.2:p.Arg1025Trp
ENST00000458637.6:c.5533C>T	ENSP00000392185.2:p.Arg1845Trp
ENST00000481328.7:n.3183C>T
ENST00000605744.1:n.268C>T
ENST00000670577.1:c.3474C>T
XM_005274012.2:c.5530C>T	XP_005274069.1:p.Arg1844Trp
XM_006718558.2:c.5638C>T	XP_006718621.1:p.Arg1880Trp
XM_006718559.2:c.5533C>T	XP_006718622.1:p.Arg1845Trp
XM_006718560.2:c.5530C>T	XP_006718623.1:p.Arg1844Trp
XM_006718561.2:c.5533C>T	XP_006718624.1:p.Arg1845Trp
XM_011545044.1:c.5647C>T	XP_011543346.1:p.Arg1883Trp
XM_011545044.2:c.5647C>T	XP_011543346.1:p.Arg1883Trp
XM_011545045.1:c.5641C>T	XP_011543347.1:p.Arg1881Trp
XM_011545046.1:c.5614C>T	XP_011543348.1:p.Arg1872Trp
XM_011545046.2:c.5737C>T	XP_011543348.2:p.Arg1913Trp
XM_011545047.1:c.5551C>T	XP_011543349.1:p.Arg1851Trp
XM_011545048.1:c.5422C>T	XP_011543350.1:p.Arg1808Trp
XM_011545049.1:c.5410C>T	XP_011543351.1:p.Arg1804Trp
XM_011545050.1:c.5383C>T	XP_011543352.1:p.Arg1795Trp
XM_011545050.2:c.5383C>T	XP_011543352.1:p.Arg1795Trp
XM_011545051.1:c.5647C>T	XP_011543353.1:p.Arg1883Trp
XM_011545052.1:c.*12C>T	XP_011543354.1:n.*12C>T
XM_017017778.1:c.5731C>T	XP_016873267.1:p.Arg1911Trp
XM_017017779.1:c.5728C>T	XP_016873268.1:p.Arg1910Trp
XM_017017780.1:c.5737C>T	XP_016873269.1:p.Arg1913Trp
XM_017017781.1:c.5641C>T	XP_016873270.1:p.Arg1881Trp
XM_017017782.1:c.5623C>T	XP_016873271.1:p.Arg1875Trp
XM_017017783.1:c.5620C>T	XP_016873272.1:p.Arg1874Trp
XM_017017784.1:c.5620C>T	XP_016873273.1:p.Arg1874Trp
XM_017017785.1:c.5500C>T	XP_016873274.1:p.Arg1834Trp
XM_017017786.1:c.5737C>T	XP_016873275.1:p.Arg1913Trp
XM_017017788.1:c.5623C>T	XP_016873277.1:p.Arg1875Trp
XR_001747885.1:n.5752C>T
XR_001747886.1:n.5667C>T
XR_001747887.1:n.5738C>T
XR_949938.1:n.5967C>T
XR_949941.1:n.5967C>T