Canonical Allele Identifier: CA6198288

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 378221
• ClinVar RCV Id: RCV000421377 ; RCV000665055 ; RCV000825981 ; RCV001273495
• dbSNP Id: rs376291076
• ExAC: 11:76903189 G / A
• gnomAD v2: 11-76903189-G-A
• gnomAD v3: 11-77192144-G-A
• gnomAD v4: 11-77192144-G-A
• MyVariant Identifiers: chr11:g.76903189G>A (hg19) ; chr11:g.77192144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77192144G>A , CM000673.2:g.77192144G>A	GRCh38
NC_000011.9:g.76903189G>A , CM000673.1:g.76903189G>A	GRCh37
NC_000011.8:g.76580837G>A	NCBI36
NG_009086.1:g.68880G>A
NG_009086.2:g.68899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4018G>A MANE Select	ENSP00000386331.3:p.Ala1340Thr
ENST00000670577.1:c.1859G>A
ENST00000409619.6:c.3985G>A	ENSP00000386635.2:p.Ala1329Thr
ENST00000409709.7:c.4018G>A	ENSP00000386331.3:p.Ala1340Thr
ENST00000458169.2:c.1561G>A	ENSP00000417017.2:p.Ala521Thr
ENST00000458637.6:c.4018G>A	ENSP00000392185.2:p.Ala1340Thr
ENST00000481328.7:n.1561G>A
NM_000260.3:c.4018G>A	NP_000251.3:p.Ala1340Thr
NM_001127180.1:c.4018G>A	NP_001120652.1:p.Ala1340Thr
XM_005274012.2:c.4018G>A	XP_005274069.1:p.Ala1340Thr
XM_006718558.2:c.4126G>A	XP_006718621.1:p.Ala1376Thr
XM_006718559.2:c.4018G>A	XP_006718622.1:p.Ala1340Thr
XM_006718560.2:c.4018G>A	XP_006718623.1:p.Ala1340Thr
XM_006718561.2:c.4018G>A	XP_006718624.1:p.Ala1340Thr
XM_011545044.1:c.4018G>A	XP_011543346.1:p.Ala1340Thr
XM_011545045.1:c.4126G>A	XP_011543347.1:p.Ala1376Thr
XM_011545046.1:c.3985G>A	XP_011543348.1:p.Ala1329Thr
XM_011545047.1:c.4036G>A	XP_011543349.1:p.Ala1346Thr
XM_011545048.1:c.3907G>A	XP_011543350.1:p.Ala1303Thr
XM_011545049.1:c.3895G>A	XP_011543351.1:p.Ala1299Thr
XM_011545050.1:c.3868G>A	XP_011543352.1:p.Ala1290Thr
XM_011545051.1:c.4018G>A	XP_011543353.1:p.Ala1340Thr
XM_011545052.1:c.4018G>A	XP_011543354.1:p.Ala1340Thr
XR_949938.1:n.4338G>A
XR_949941.1:n.4338G>A
XR_949942.1:n.4340G>A
XR_949943.1:n.4448G>A
XM_011545044.2:c.4018G>A	XP_011543346.1:p.Ala1340Thr
XM_011545046.2:c.4108G>A	XP_011543348.2:p.Ala1370Thr
XM_011545050.2:c.3868G>A	XP_011543352.1:p.Ala1290Thr
XM_017017778.1:c.4216G>A	XP_016873267.1:p.Ala1406Thr
XM_017017779.1:c.4216G>A	XP_016873268.1:p.Ala1406Thr
XM_017017780.1:c.4108G>A	XP_016873269.1:p.Ala1370Thr
XM_017017781.1:c.4126G>A	XP_016873270.1:p.Ala1376Thr
XM_017017782.1:c.4108G>A	XP_016873271.1:p.Ala1370Thr
XM_017017783.1:c.4108G>A	XP_016873272.1:p.Ala1370Thr
XM_017017784.1:c.4108G>A	XP_016873273.1:p.Ala1370Thr
XM_017017785.1:c.3985G>A	XP_016873274.1:p.Ala1329Thr
XM_017017786.1:c.4108G>A	XP_016873275.1:p.Ala1370Thr
XM_017017787.1:c.4216G>A	XP_016873276.1:p.Ala1406Thr
XM_017017788.1:c.4108G>A	XP_016873277.1:p.Ala1370Thr
XR_001747885.1:n.4123G>A
XR_001747886.1:n.4123G>A
XR_001747887.1:n.4123G>A
XR_001747888.1:n.4123G>A
XR_001747889.1:n.4231G>A
NM_000260.4:c.4018G>A MANE Select	NP_000251.3:p.Ala1340Thr
NM_001127180.2:c.4018G>A	NP_001120652.1:p.Ala1340Thr
NM_001369365.1:c.3985G>A	NP_001356294.1:p.Ala1329Thr