Canonical Allele Identifier: CA475797286

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1563480
• ClinVar RCV Id: RCV002207144
• dbSNP Id: rs2135748610
• gnomAD v4: 11-77207291-C-T
• MyVariant Identifiers: chr11:g.76918336C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207291C>T , CM000673.2:g.77207291C>T	GRCh38
NC_000011.9:g.76918336C>T , CM000673.1:g.76918336C>T	GRCh37
NC_000011.8:g.76595984C>T	NCBI36
NG_009086.1:g.84027C>T
NG_009086.2:g.84046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5745C>T MANE Select	ENSP00000386331.3:p.Ala1915=
ENST00000670577.1:c.3572C>T
ENST00000409619.6:c.5598C>T	ENSP00000386635.2:p.Ala1866=
ENST00000409709.7:c.5745C>T	ENSP00000386331.3:p.Ala1915=
ENST00000458169.2:c.3171C>T	ENSP00000417017.2:p.Ala1057=
ENST00000458637.6:c.5631C>T	ENSP00000392185.2:p.Ala1877=
ENST00000481328.7:n.3281C>T
ENST00000605744.1:n.659C>T
NM_000260.3:c.5745C>T	NP_000251.3:p.Ala1915=
NM_001127180.1:c.5631C>T	NP_001120652.1:p.Ala1877=
XM_005274012.2:c.5628C>T	XP_005274069.1:p.Ala1876=
XM_006718558.2:c.5736C>T	XP_006718621.1:p.Ala1912=
XM_006718559.2:c.5631C>T	XP_006718622.1:p.Ala1877=
XM_006718560.2:c.5628C>T	XP_006718623.1:p.Ala1876=
XM_006718561.2:c.5631C>T	XP_006718624.1:p.Ala1877=
XM_011545044.1:c.5745C>T	XP_011543346.1:p.Ala1915=
XM_011545045.1:c.5739C>T	XP_011543347.1:p.Ala1913=
XM_011545046.1:c.5712C>T	XP_011543348.1:p.Ala1904=
XM_011545047.1:c.5649C>T	XP_011543349.1:p.Ala1883=
XM_011545048.1:c.5520C>T	XP_011543350.1:p.Ala1840=
XM_011545049.1:c.5508C>T	XP_011543351.1:p.Ala1836=
XM_011545050.1:c.5481C>T	XP_011543352.1:p.Ala1827=
XM_011545051.1:c.5745C>T	XP_011543353.1:p.Ala1915=
XR_949938.1:n.6065C>T
XR_949941.1:n.6065C>T
XM_011545044.2:c.5745C>T	XP_011543346.1:p.Ala1915=
XM_011545046.2:c.5835C>T	XP_011543348.2:p.Ala1945=
XM_011545050.2:c.5481C>T	XP_011543352.1:p.Ala1827=
XM_017017778.1:c.5829C>T	XP_016873267.1:p.Ala1943=
XM_017017779.1:c.5826C>T	XP_016873268.1:p.Ala1942=
XM_017017780.1:c.5835C>T	XP_016873269.1:p.Ala1945=
XM_017017781.1:c.5739C>T	XP_016873270.1:p.Ala1913=
XM_017017782.1:c.5721C>T	XP_016873271.1:p.Ala1907=
XM_017017783.1:c.5718C>T	XP_016873272.1:p.Ala1906=
XM_017017784.1:c.5718C>T	XP_016873273.1:p.Ala1906=
XM_017017785.1:c.5598C>T	XP_016873274.1:p.Ala1866=
XM_017017786.1:c.5835C>T	XP_016873275.1:p.Ala1945=
XM_017017788.1:c.5721C>T	XP_016873277.1:p.Ala1907=
XR_001747885.1:n.5850C>T
XR_001747886.1:n.5765C>T
XR_001747887.1:n.5836C>T
NM_000260.4:c.5745C>T MANE Select	NP_000251.3:p.Ala1915=
NM_001127180.2:c.5631C>T	NP_001120652.1:p.Ala1877=
NM_001369365.1:c.5598C>T	NP_001356294.1:p.Ala1866=