Canonical Allele Identifier: CA224854978

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 765095
• ClinVar RCV Id: RCV000943478
• dbSNP Id: rs992967931
• gnomAD v2: 11-76918369-C-T
• gnomAD v4: 11-77207324-C-T
• MyVariant Identifiers: chr11:g.76918369C>T (hg19) ; chr11:g.77207324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207324C>T , CM000673.2:g.77207324C>T	GRCh38
NC_000011.9:g.76918369C>T , CM000673.1:g.76918369C>T	GRCh37
NC_000011.8:g.76596017C>T	NCBI36
NG_009086.1:g.84060C>T
NG_009086.2:g.84079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5778C>T MANE Select	ENSP00000386331.3:p.Asp1926=
ENST00000670577.1:c.3605C>T
ENST00000409619.6:c.5631C>T	ENSP00000386635.2:p.Asp1877=
ENST00000409709.7:c.5778C>T	ENSP00000386331.3:p.Asp1926=
ENST00000458169.2:c.3204C>T	ENSP00000417017.2:p.Asp1068=
ENST00000458637.6:c.5664C>T	ENSP00000392185.2:p.Asp1888=
ENST00000481328.7:n.3314C>T
ENST00000605744.1:n.692C>T
NM_000260.3:c.5778C>T	NP_000251.3:p.Asp1926=
NM_001127180.1:c.5664C>T	NP_001120652.1:p.Asp1888=
XM_005274012.2:c.5661C>T	XP_005274069.1:p.Asp1887=
XM_006718558.2:c.5769C>T	XP_006718621.1:p.Asp1923=
XM_006718559.2:c.5664C>T	XP_006718622.1:p.Asp1888=
XM_006718560.2:c.5661C>T	XP_006718623.1:p.Asp1887=
XM_006718561.2:c.5664C>T	XP_006718624.1:p.Asp1888=
XM_011545044.1:c.5778C>T	XP_011543346.1:p.Asp1926=
XM_011545045.1:c.5772C>T	XP_011543347.1:p.Asp1924=
XM_011545046.1:c.5745C>T	XP_011543348.1:p.Asp1915=
XM_011545047.1:c.5682C>T	XP_011543349.1:p.Asp1894=
XM_011545048.1:c.5553C>T	XP_011543350.1:p.Asp1851=
XM_011545049.1:c.5541C>T	XP_011543351.1:p.Asp1847=
XM_011545050.1:c.5514C>T	XP_011543352.1:p.Asp1838=
XM_011545051.1:c.5778C>T	XP_011543353.1:p.Asp1926=
XR_949938.1:n.6098C>T
XR_949941.1:n.6098C>T
XM_011545044.2:c.5778C>T	XP_011543346.1:p.Asp1926=
XM_011545046.2:c.5868C>T	XP_011543348.2:p.Asp1956=
XM_011545050.2:c.5514C>T	XP_011543352.1:p.Asp1838=
XM_017017778.1:c.5862C>T	XP_016873267.1:p.Asp1954=
XM_017017779.1:c.5859C>T	XP_016873268.1:p.Asp1953=
XM_017017780.1:c.5868C>T	XP_016873269.1:p.Asp1956=
XM_017017781.1:c.5772C>T	XP_016873270.1:p.Asp1924=
XM_017017782.1:c.5754C>T	XP_016873271.1:p.Asp1918=
XM_017017783.1:c.5751C>T	XP_016873272.1:p.Asp1917=
XM_017017784.1:c.5751C>T	XP_016873273.1:p.Asp1917=
XM_017017785.1:c.5631C>T	XP_016873274.1:p.Asp1877=
XM_017017786.1:c.5868C>T	XP_016873275.1:p.Asp1956=
XM_017017788.1:c.5754C>T	XP_016873277.1:p.Asp1918=
XR_001747885.1:n.5883C>T
XR_001747886.1:n.5798C>T
XR_001747887.1:n.5869C>T
NM_000260.4:c.5778C>T MANE Select	NP_000251.3:p.Asp1926=
NM_001127180.2:c.5664C>T	NP_001120652.1:p.Asp1888=
NM_001369365.1:c.5631C>T	NP_001356294.1:p.Asp1877=