Canonical Allele Identifier: CA278691

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 43298
• ClinVar RCV Id: RCV000036203 ; RCV000675068 ; RCV001074201 ; RCV001252670 ; RCV002513375
• dbSNP Id: rs397516323
• gnomAD v2: 11-76918395-T-C
• gnomAD v3: 11-77207350-T-C
• gnomAD v4: 11-77207350-T-C
• MyVariant Identifiers: chr11:g.76918395T>C (hg19) ; chr11:g.77207350T>C (hg38)
• ERepo: CA278691/MONDO:0019501/005

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207350T>C , CM000673.2:g.77207350T>C	GRCh38
NC_000011.9:g.76918395T>C , CM000673.1:g.76918395T>C	GRCh37
NC_000011.8:g.76596043T>C	NCBI36
NG_009086.1:g.84086T>C
NG_009086.2:g.84105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5804T>C MANE Select	ENSP00000386331.3:p.Leu1935Pro
ENST00000670577.1:c.3631T>C
ENST00000409619.6:c.5657T>C	ENSP00000386635.2:p.Leu1886Pro
ENST00000409709.7:c.5804T>C	ENSP00000386331.3:p.Leu1935Pro
ENST00000458169.2:c.3230T>C	ENSP00000417017.2:p.Leu1077Pro
ENST00000458637.6:c.5690T>C	ENSP00000392185.2:p.Leu1897Pro
ENST00000481328.7:n.3340T>C
ENST00000605744.1:n.718T>C
NM_000260.3:c.5804T>C	NP_000251.3:p.Leu1935Pro
NM_001127180.1:c.5690T>C	NP_001120652.1:p.Leu1897Pro
XM_005274012.2:c.5687T>C	XP_005274069.1:p.Leu1896Pro
XM_006718558.2:c.5795T>C	XP_006718621.1:p.Leu1932Pro
XM_006718559.2:c.5690T>C	XP_006718622.1:p.Leu1897Pro
XM_006718560.2:c.5687T>C	XP_006718623.1:p.Leu1896Pro
XM_006718561.2:c.5690T>C	XP_006718624.1:p.Leu1897Pro
XM_011545044.1:c.5804T>C	XP_011543346.1:p.Leu1935Pro
XM_011545045.1:c.5798T>C	XP_011543347.1:p.Leu1933Pro
XM_011545046.1:c.5771T>C	XP_011543348.1:p.Leu1924Pro
XM_011545047.1:c.5708T>C	XP_011543349.1:p.Leu1903Pro
XM_011545048.1:c.5579T>C	XP_011543350.1:p.Leu1860Pro
XM_011545049.1:c.5567T>C	XP_011543351.1:p.Leu1856Pro
XM_011545050.1:c.5540T>C	XP_011543352.1:p.Leu1847Pro
XM_011545051.1:c.5804T>C	XP_011543353.1:p.Leu1935Pro
XR_949938.1:n.6124T>C
XR_949941.1:n.6124T>C
XM_011545044.2:c.5804T>C	XP_011543346.1:p.Leu1935Pro
XM_011545046.2:c.5894T>C	XP_011543348.2:p.Leu1965Pro
XM_011545050.2:c.5540T>C	XP_011543352.1:p.Leu1847Pro
XM_017017778.1:c.5888T>C	XP_016873267.1:p.Leu1963Pro
XM_017017779.1:c.5885T>C	XP_016873268.1:p.Leu1962Pro
XM_017017780.1:c.5894T>C	XP_016873269.1:p.Leu1965Pro
XM_017017781.1:c.5798T>C	XP_016873270.1:p.Leu1933Pro
XM_017017782.1:c.5780T>C	XP_016873271.1:p.Leu1927Pro
XM_017017783.1:c.5777T>C	XP_016873272.1:p.Leu1926Pro
XM_017017784.1:c.5777T>C	XP_016873273.1:p.Leu1926Pro
XM_017017785.1:c.5657T>C	XP_016873274.1:p.Leu1886Pro
XM_017017786.1:c.5894T>C	XP_016873275.1:p.Leu1965Pro
XM_017017788.1:c.5780T>C	XP_016873277.1:p.Leu1927Pro
XR_001747885.1:n.5909T>C
XR_001747886.1:n.5824T>C
XR_001747887.1:n.5895T>C
NM_000260.4:c.5804T>C MANE Select	NP_000251.3:p.Leu1935Pro
NM_001127180.2:c.5690T>C	NP_001120652.1:p.Leu1897Pro
NM_001369365.1:c.5657T>C	NP_001356294.1:p.Leu1886Pro