Canonical Allele Identifier: CA224827839

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 930008
• ClinVar RCV Id: RCV001195386 ; RCV002561034
• dbSNP Id: rs1046633522
• gnomAD v2: 11-76922350-A-T
• gnomAD v3: 11-77211305-A-T
• gnomAD v4: 11-77211305-A-T
• MyVariant Identifiers: chr11:g.76922350A>T (hg19) ; chr11:g.77211305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211305A>T , CM000673.2:g.77211305A>T	GRCh38
NC_000011.9:g.76922350A>T , CM000673.1:g.76922350A>T	GRCh37
NC_000011.8:g.76599998A>T	NCBI36
NG_009086.1:g.88041A>T
NG_009086.2:g.88060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6205A>T MANE Select	ENSP00000386331.3:p.Ile2069Phe
ENST00000670577.1:c.4006A>T
ENST00000409619.6:c.6058A>T	ENSP00000386635.2:p.Ile2020Phe
ENST00000409709.7:c.6205A>T	ENSP00000386331.3:p.Ile2069Phe
ENST00000458169.2:c.3631A>T	ENSP00000417017.2:p.Ile1211Phe
ENST00000458637.6:c.6091A>T	ENSP00000392185.2:p.Ile2031Phe
ENST00000481328.7:n.3741A>T
ENST00000526863.2:n.25+394A>T
ENST00000605744.1:n.1672A>T
NM_000260.3:c.6205A>T	NP_000251.3:p.Ile2069Phe
NM_001127180.1:c.6091A>T	NP_001120652.1:p.Ile2031Phe
XM_005274012.2:c.6088A>T	XP_005274069.1:p.Ile2030Phe
XM_006718558.2:c.6196A>T	XP_006718621.1:p.Ile2066Phe
XM_006718559.2:c.6091A>T	XP_006718622.1:p.Ile2031Phe
XM_006718560.2:c.6088A>T	XP_006718623.1:p.Ile2030Phe
XM_006718561.2:c.6091A>T	XP_006718624.1:p.Ile2031Phe
XM_011545044.1:c.6205A>T	XP_011543346.1:p.Ile2069Phe
XM_011545045.1:c.6199A>T	XP_011543347.1:p.Ile2067Phe
XM_011545046.1:c.6172A>T	XP_011543348.1:p.Ile2058Phe
XM_011545047.1:c.6109A>T	XP_011543349.1:p.Ile2037Phe
XM_011545048.1:c.5980A>T	XP_011543350.1:p.Ile1994Phe
XM_011545049.1:c.5968A>T	XP_011543351.1:p.Ile1990Phe
XM_011545050.1:c.5941A>T	XP_011543352.1:p.Ile1981Phe
XM_011545051.1:c.6205A>T	XP_011543353.1:p.Ile2069Phe
XR_949938.1:n.6525A>T
XR_949941.1:n.6499A>T
XM_011545044.2:c.6205A>T	XP_011543346.1:p.Ile2069Phe
XM_011545046.2:c.6295A>T	XP_011543348.2:p.Ile2099Phe
XM_011545050.2:c.5941A>T	XP_011543352.1:p.Ile1981Phe
XM_017017778.1:c.6289A>T	XP_016873267.1:p.Ile2097Phe
XM_017017779.1:c.6286A>T	XP_016873268.1:p.Ile2096Phe
XM_017017780.1:c.6295A>T	XP_016873269.1:p.Ile2099Phe
XM_017017781.1:c.6199A>T	XP_016873270.1:p.Ile2067Phe
XM_017017782.1:c.6181A>T	XP_016873271.1:p.Ile2061Phe
XM_017017783.1:c.6178A>T	XP_016873272.1:p.Ile2060Phe
XM_017017784.1:c.6178A>T	XP_016873273.1:p.Ile2060Phe
XM_017017785.1:c.6058A>T	XP_016873274.1:p.Ile2020Phe
XM_017017786.1:c.6295A>T	XP_016873275.1:p.Ile2099Phe
XM_017017788.1:c.6181A>T	XP_016873277.1:p.Ile2061Phe
XR_001747885.1:n.6284A>T
XR_001747887.1:n.6270A>T
NM_000260.4:c.6205A>T MANE Select	NP_000251.3:p.Ile2069Phe
NM_001127180.2:c.6091A>T	NP_001120652.1:p.Ile2031Phe
NM_001369365.1:c.6058A>T	NP_001356294.1:p.Ile2020Phe