Canonical Allele Identifier: CA381936269

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211317-T-C
• MyVariant Identifiers: chr11:g.76922362T>C (hg19) ; chr11:g.77211317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211317T>C , CM000673.2:g.77211317T>C	GRCh38
NC_000011.9:g.76922362T>C , CM000673.1:g.76922362T>C	GRCh37
NC_000011.8:g.76600010T>C	NCBI36
NG_009086.1:g.88053T>C
NG_009086.2:g.88072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6217T>C MANE Select	ENSP00000386331.3:p.Ser2073Pro
ENST00000670577.1:c.4018T>C
ENST00000409619.6:c.6070T>C	ENSP00000386635.2:p.Ser2024Pro
ENST00000409709.7:c.6217T>C	ENSP00000386331.3:p.Ser2073Pro
ENST00000458169.2:c.3643T>C	ENSP00000417017.2:p.Ser1215Pro
ENST00000458637.6:c.6103T>C	ENSP00000392185.2:p.Ser2035Pro
ENST00000481328.7:n.3753T>C
ENST00000526863.2:n.25+406T>C
ENST00000605744.1:n.1684T>C
NM_000260.3:c.6217T>C	NP_000251.3:p.Ser2073Pro
NM_001127180.1:c.6103T>C	NP_001120652.1:p.Ser2035Pro
XM_005274012.2:c.6100T>C	XP_005274069.1:p.Ser2034Pro
XM_006718558.2:c.6208T>C	XP_006718621.1:p.Ser2070Pro
XM_006718559.2:c.6103T>C	XP_006718622.1:p.Ser2035Pro
XM_006718560.2:c.6100T>C	XP_006718623.1:p.Ser2034Pro
XM_006718561.2:c.6103T>C	XP_006718624.1:p.Ser2035Pro
XM_011545044.1:c.6217T>C	XP_011543346.1:p.Ser2073Pro
XM_011545045.1:c.6211T>C	XP_011543347.1:p.Ser2071Pro
XM_011545046.1:c.6184T>C	XP_011543348.1:p.Ser2062Pro
XM_011545047.1:c.6121T>C	XP_011543349.1:p.Ser2041Pro
XM_011545048.1:c.5992T>C	XP_011543350.1:p.Ser1998Pro
XM_011545049.1:c.5980T>C	XP_011543351.1:p.Ser1994Pro
XM_011545050.1:c.5953T>C	XP_011543352.1:p.Ser1985Pro
XM_011545051.1:c.6217T>C	XP_011543353.1:p.Ser2073Pro
XR_949938.1:n.6537T>C
XR_949941.1:n.6511T>C
XM_011545044.2:c.6217T>C	XP_011543346.1:p.Ser2073Pro
XM_011545046.2:c.6307T>C	XP_011543348.2:p.Ser2103Pro
XM_011545050.2:c.5953T>C	XP_011543352.1:p.Ser1985Pro
XM_017017778.1:c.6301T>C	XP_016873267.1:p.Ser2101Pro
XM_017017779.1:c.6298T>C	XP_016873268.1:p.Ser2100Pro
XM_017017780.1:c.6307T>C	XP_016873269.1:p.Ser2103Pro
XM_017017781.1:c.6211T>C	XP_016873270.1:p.Ser2071Pro
XM_017017782.1:c.6193T>C	XP_016873271.1:p.Ser2065Pro
XM_017017783.1:c.6190T>C	XP_016873272.1:p.Ser2064Pro
XM_017017784.1:c.6190T>C	XP_016873273.1:p.Ser2064Pro
XM_017017785.1:c.6070T>C	XP_016873274.1:p.Ser2024Pro
XM_017017786.1:c.6307T>C	XP_016873275.1:p.Ser2103Pro
XM_017017788.1:c.6193T>C	XP_016873277.1:p.Ser2065Pro
XR_001747885.1:n.6296T>C
XR_001747887.1:n.6282T>C
NM_000260.4:c.6217T>C MANE Select	NP_000251.3:p.Ser2073Pro
NM_001127180.2:c.6103T>C	NP_001120652.1:p.Ser2035Pro
NM_001369365.1:c.6070T>C	NP_001356294.1:p.Ser2024Pro