Canonical Allele Identifier: CA381935814

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211221-A-G
• COSMIC: COSM5771527
• MyVariant Identifiers: chr11:g.76922266A>G (hg19) ; chr11:g.77211221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211221A>G , CM000673.2:g.77211221A>G	GRCh38
NC_000011.9:g.76922266A>G , CM000673.1:g.76922266A>G	GRCh37
NC_000011.8:g.76599914A>G	NCBI36
NG_009086.1:g.87957A>G
NG_009086.2:g.87976A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6121A>G MANE Select	ENSP00000386331.3:p.Ile2041Val
ENST00000670577.1:c.3922A>G
ENST00000409619.6:c.5974A>G	ENSP00000386635.2:p.Ile1992Val
ENST00000409709.7:c.6121A>G	ENSP00000386331.3:p.Ile2041Val
ENST00000458169.2:c.3547A>G	ENSP00000417017.2:p.Ile1183Val
ENST00000458637.6:c.6007A>G	ENSP00000392185.2:p.Ile2003Val
ENST00000481328.7:n.3657A>G
ENST00000526863.2:n.25+310A>G
ENST00000605744.1:n.1588A>G
NM_000260.3:c.6121A>G	NP_000251.3:p.Ile2041Val
NM_001127180.1:c.6007A>G	NP_001120652.1:p.Ile2003Val
XM_005274012.2:c.6004A>G	XP_005274069.1:p.Ile2002Val
XM_006718558.2:c.6112A>G	XP_006718621.1:p.Ile2038Val
XM_006718559.2:c.6007A>G	XP_006718622.1:p.Ile2003Val
XM_006718560.2:c.6004A>G	XP_006718623.1:p.Ile2002Val
XM_006718561.2:c.6007A>G	XP_006718624.1:p.Ile2003Val
XM_011545044.1:c.6121A>G	XP_011543346.1:p.Ile2041Val
XM_011545045.1:c.6115A>G	XP_011543347.1:p.Ile2039Val
XM_011545046.1:c.6088A>G	XP_011543348.1:p.Ile2030Val
XM_011545047.1:c.6025A>G	XP_011543349.1:p.Ile2009Val
XM_011545048.1:c.5896A>G	XP_011543350.1:p.Ile1966Val
XM_011545049.1:c.5884A>G	XP_011543351.1:p.Ile1962Val
XM_011545050.1:c.5857A>G	XP_011543352.1:p.Ile1953Val
XM_011545051.1:c.6121A>G	XP_011543353.1:p.Ile2041Val
XR_949938.1:n.6441A>G
XR_949941.1:n.6415A>G
XM_011545044.2:c.6121A>G	XP_011543346.1:p.Ile2041Val
XM_011545046.2:c.6211A>G	XP_011543348.2:p.Ile2071Val
XM_011545050.2:c.5857A>G	XP_011543352.1:p.Ile1953Val
XM_017017778.1:c.6205A>G	XP_016873267.1:p.Ile2069Val
XM_017017779.1:c.6202A>G	XP_016873268.1:p.Ile2068Val
XM_017017780.1:c.6211A>G	XP_016873269.1:p.Ile2071Val
XM_017017781.1:c.6115A>G	XP_016873270.1:p.Ile2039Val
XM_017017782.1:c.6097A>G	XP_016873271.1:p.Ile2033Val
XM_017017783.1:c.6094A>G	XP_016873272.1:p.Ile2032Val
XM_017017784.1:c.6094A>G	XP_016873273.1:p.Ile2032Val
XM_017017785.1:c.5974A>G	XP_016873274.1:p.Ile1992Val
XM_017017786.1:c.6211A>G	XP_016873275.1:p.Ile2071Val
XM_017017788.1:c.6097A>G	XP_016873277.1:p.Ile2033Val
XR_001747885.1:n.6200A>G
XR_001747886.1:n.6141A>G
XR_001747887.1:n.6186A>G
NM_000260.4:c.6121A>G MANE Select	NP_000251.3:p.Ile2041Val
NM_001127180.2:c.6007A>G	NP_001120652.1:p.Ile2003Val
NM_001369365.1:c.5974A>G	NP_001356294.1:p.Ile1992Val