Canonical Allele Identifier: CA475794165

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2043826
• ClinVar RCV Id: RCV002913280
• dbSNP Id: rs782266200
• gnomAD v2: 11-76853766-G-A
• gnomAD v3: 11-77142720-G-A
• gnomAD v4: 11-77142720-G-A
• MyVariant Identifiers: chr11:g.76853766G>A (hg19) ; chr11:g.77142720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77142720G>A , CM000673.2:g.77142720G>A	GRCh38
NC_000011.9:g.76853766G>A , CM000673.1:g.76853766G>A	GRCh37
NC_000011.8:g.76531414G>A	NCBI36
NG_009086.1:g.19457G>A
NG_009086.2:g.19475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.30G>A MANE Select	ENSP00000386331.3:p.Val10=
ENST00000660626.1:c.120G>A	ENSP00000499401.1:p.Val40=
ENST00000409619.6:c.-4G>A	ENSP00000386635.2:n.-4G>A
ENST00000409709.7:c.30G>A	ENSP00000386331.3:p.Val10=
ENST00000409893.5:c.30G>A	ENSP00000386689.1:p.Val10=
ENST00000458637.6:c.30G>A	ENSP00000392185.2:p.Val10=
ENST00000620575.4:c.30G>A	ENSP00000477640.1:p.Val10=
NM_000260.3:c.30G>A	NP_000251.3:p.Val10=
NM_001127179.2:c.30G>A	NP_001120651.2:p.Val10=
NM_001127180.1:c.30G>A	NP_001120652.1:p.Val10=
XM_005274012.2:c.30G>A	XP_005274069.1:p.Val10=
XM_006718558.2:c.30G>A	XP_006718621.1:p.Val10=
XM_006718559.2:c.30G>A	XP_006718622.1:p.Val10=
XM_006718560.2:c.30G>A	XP_006718623.1:p.Val10=
XM_006718561.2:c.30G>A	XP_006718624.1:p.Val10=
XM_011545044.1:c.30G>A	XP_011543346.1:p.Val10=
XM_011545045.1:c.30G>A	XP_011543347.1:p.Val10=
XM_011545046.1:c.-4G>A	XP_011543348.1:n.-4G>A
XM_011545047.1:c.30G>A	XP_011543349.1:p.Val10=
XM_011545048.1:c.30G>A	XP_011543350.1:p.Val10=
XM_011545049.1:c.30G>A	XP_011543351.1:p.Val10=
XM_011545051.1:c.30G>A	XP_011543353.1:p.Val10=
XM_011545052.1:c.30G>A	XP_011543354.1:p.Val10=
XR_949938.1:n.350G>A
XR_949941.1:n.350G>A
XR_949942.1:n.352G>A
XR_949943.1:n.352G>A
XM_011545044.2:c.30G>A	XP_011543346.1:p.Val10=
XM_011545046.2:c.120G>A	XP_011543348.2:p.Val40=
XM_017017778.1:c.120G>A	XP_016873267.1:p.Val40=
XM_017017779.1:c.120G>A	XP_016873268.1:p.Val40=
XM_017017780.1:c.120G>A	XP_016873269.1:p.Val40=
XM_017017781.1:c.120G>A	XP_016873270.1:p.Val40=
XM_017017782.1:c.120G>A	XP_016873271.1:p.Val40=
XM_017017783.1:c.120G>A	XP_016873272.1:p.Val40=
XM_017017784.1:c.120G>A	XP_016873273.1:p.Val40=
XM_017017785.1:c.120G>A	XP_016873274.1:p.Val40=
XM_017017786.1:c.120G>A	XP_016873275.1:p.Val40=
XM_017017787.1:c.120G>A	XP_016873276.1:p.Val40=
XM_017017788.1:c.120G>A	XP_016873277.1:p.Val40=
XR_001747885.1:n.135G>A
XR_001747886.1:n.135G>A
XR_001747887.1:n.135G>A
XR_001747888.1:n.135G>A
XR_001747889.1:n.135G>A
NM_000260.4:c.30G>A MANE Select	NP_000251.3:p.Val10=
NM_001127180.2:c.30G>A	NP_001120652.1:p.Val10=
NM_001369365.1:c.-4G>A	NP_001356294.1:n.-4G>A