Canonical Allele Identifier: CA381950857

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 864200
• ClinVar RCV Id: RCV001071331
• dbSNP Id: rs1346469022
• gnomAD v4: 11-77199717-C-G
• MyVariant Identifiers: chr11:g.76910762C>G (hg19) ; chr11:g.77199717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199717C>G , CM000673.2:g.77199717C>G	GRCh38
NC_000011.9:g.76910762C>G , CM000673.1:g.76910762C>G	GRCh37
NC_000011.8:g.76588410C>G	NCBI36
NG_009086.1:g.76453C>G
NG_009086.2:g.76472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4751C>G MANE Select	ENSP00000386331.3:p.Ser1584Cys
ENST00000670577.1:c.2592C>G
ENST00000409619.6:c.4604C>G	ENSP00000386635.2:p.Ser1535Cys
ENST00000409709.7:c.4751C>G	ENSP00000386331.3:p.Ser1584Cys
ENST00000458169.2:c.2180C>G	ENSP00000417017.2:p.Ser727Cys
ENST00000458637.6:c.4637C>G	ENSP00000392185.2:p.Ser1546Cys
ENST00000481328.7:n.2290C>G
NM_000260.3:c.4751C>G	NP_000251.3:p.Ser1584Cys
NM_001127180.1:c.4637C>G	NP_001120652.1:p.Ser1546Cys
XM_005274012.2:c.4637C>G	XP_005274069.1:p.Ser1546Cys
XM_006718558.2:c.4745C>G	XP_006718621.1:p.Ser1582Cys
XM_006718559.2:c.4637C>G	XP_006718622.1:p.Ser1546Cys
XM_006718560.2:c.4637C>G	XP_006718623.1:p.Ser1546Cys
XM_006718561.2:c.4637C>G	XP_006718624.1:p.Ser1546Cys
XM_011545044.1:c.4751C>G	XP_011543346.1:p.Ser1584Cys
XM_011545045.1:c.4745C>G	XP_011543347.1:p.Ser1582Cys
XM_011545046.1:c.4718C>G	XP_011543348.1:p.Ser1573Cys
XM_011545047.1:c.4655C>G	XP_011543349.1:p.Ser1552Cys
XM_011545048.1:c.4526C>G	XP_011543350.1:p.Ser1509Cys
XM_011545049.1:c.4514C>G	XP_011543351.1:p.Ser1505Cys
XM_011545050.1:c.4487C>G	XP_011543352.1:p.Ser1496Cys
XM_011545051.1:c.4751C>G	XP_011543353.1:p.Ser1584Cys
XM_011545052.1:c.4751C>G	XP_011543354.1:p.Ser1584Cys
XR_949938.1:n.5071C>G
XR_949941.1:n.5071C>G
XR_949942.1:n.5073C>G
XM_011545044.2:c.4751C>G	XP_011543346.1:p.Ser1584Cys
XM_011545046.2:c.4841C>G	XP_011543348.2:p.Ser1614Cys
XM_011545050.2:c.4487C>G	XP_011543352.1:p.Ser1496Cys
XM_017017778.1:c.4835C>G	XP_016873267.1:p.Ser1612Cys
XM_017017779.1:c.4835C>G	XP_016873268.1:p.Ser1612Cys
XM_017017780.1:c.4841C>G	XP_016873269.1:p.Ser1614Cys
XM_017017781.1:c.4745C>G	XP_016873270.1:p.Ser1582Cys
XM_017017782.1:c.4727C>G	XP_016873271.1:p.Ser1576Cys
XM_017017783.1:c.4727C>G	XP_016873272.1:p.Ser1576Cys
XM_017017784.1:c.4727C>G	XP_016873273.1:p.Ser1576Cys
XM_017017785.1:c.4604C>G	XP_016873274.1:p.Ser1535Cys
XM_017017786.1:c.4841C>G	XP_016873275.1:p.Ser1614Cys
XM_017017788.1:c.4727C>G	XP_016873277.1:p.Ser1576Cys
XR_001747885.1:n.4856C>G
XR_001747886.1:n.4856C>G
XR_001747887.1:n.4856C>G
XR_001747888.1:n.4856C>G
NM_000260.4:c.4751C>G MANE Select	NP_000251.3:p.Ser1584Cys
NM_001127180.2:c.4637C>G	NP_001120652.1:p.Ser1546Cys
NM_001369365.1:c.4604C>G	NP_001356294.1:p.Ser1535Cys