Canonical Allele Identifier: CA381939520

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1408690
• ClinVar RCV Id: RCV001938117
• dbSNP Id: rs1470578844
• gnomAD v2: 11-76925731-G-A
• gnomAD v4: 11-77214686-G-A
• MyVariant Identifiers: chr11:g.76925731G>A (hg19) ; chr11:g.77214686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214686G>A , CM000673.2:g.77214686G>A	GRCh38
NC_000011.9:g.76925731G>A , CM000673.1:g.76925731G>A	GRCh37
NC_000011.8:g.76603379G>A	NCBI36
NG_009086.1:g.91422G>A
NG_009086.2:g.91441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6638G>A MANE Select	ENSP00000386331.3:p.Ser2213Asn
ENST00000670577.1:c.4439G>A
ENST00000409619.6:c.6491G>A	ENSP00000386635.2:p.Ser2164Asn
ENST00000409709.7:c.6638G>A	ENSP00000386331.3:p.Ser2213Asn
ENST00000458169.2:c.4064G>A	ENSP00000417017.2:p.Ser1355Asn
ENST00000458637.6:c.6518G>A	ENSP00000392185.2:p.Ser2173Asn
ENST00000481328.7:n.5188G>A
ENST00000605744.1:n.2152G>A
NM_000260.3:c.6638G>A	NP_000251.3:p.Ser2213Asn
NM_001127180.1:c.6518G>A	NP_001120652.1:p.Ser2173Asn
XM_005274012.2:c.6521G>A	XP_005274069.1:p.Ser2174Asn
XM_006718561.2:c.6524G>A	XP_006718624.1:p.Ser2175Asn
XR_949941.1:n.6932G>A
XM_017017780.1:c.6728G>A	XP_016873269.1:p.Ser2243Asn
XM_017017784.1:c.6611G>A	XP_016873273.1:p.Ser2204Asn
XM_017017788.1:c.6614G>A	XP_016873277.1:p.Ser2205Asn
XR_001747885.1:n.6717G>A
XR_001747887.1:n.6703G>A
NM_000260.4:c.6638G>A MANE Select	NP_000251.3:p.Ser2213Asn
NM_001127180.2:c.6518G>A	NP_001120652.1:p.Ser2173Asn
NM_001369365.1:c.6491G>A	NP_001356294.1:p.Ser2164Asn