Canonical Allele Identifier: CA381936020

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922308A>C (hg19) ; chr11:g.77211263A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211263A>C , CM000673.2:g.77211263A>C	GRCh38
NC_000011.9:g.76922308A>C , CM000673.1:g.76922308A>C	GRCh37
NC_000011.8:g.76599956A>C	NCBI36
NG_009086.1:g.87999A>C
NG_009086.2:g.88018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6163A>C MANE Select	ENSP00000386331.3:p.Ser2055Arg
ENST00000670577.1:c.3964A>C
ENST00000409619.6:c.6016A>C	ENSP00000386635.2:p.Ser2006Arg
ENST00000409709.7:c.6163A>C	ENSP00000386331.3:p.Ser2055Arg
ENST00000458169.2:c.3589A>C	ENSP00000417017.2:p.Ser1197Arg
ENST00000458637.6:c.6049A>C	ENSP00000392185.2:p.Ser2017Arg
ENST00000481328.7:n.3699A>C
ENST00000526863.2:n.25+352A>C
ENST00000605744.1:n.1630A>C
NM_000260.3:c.6163A>C	NP_000251.3:p.Ser2055Arg
NM_001127180.1:c.6049A>C	NP_001120652.1:p.Ser2017Arg
XM_005274012.2:c.6046A>C	XP_005274069.1:p.Ser2016Arg
XM_006718558.2:c.6154A>C	XP_006718621.1:p.Ser2052Arg
XM_006718559.2:c.6049A>C	XP_006718622.1:p.Ser2017Arg
XM_006718560.2:c.6046A>C	XP_006718623.1:p.Ser2016Arg
XM_006718561.2:c.6049A>C	XP_006718624.1:p.Ser2017Arg
XM_011545044.1:c.6163A>C	XP_011543346.1:p.Ser2055Arg
XM_011545045.1:c.6157A>C	XP_011543347.1:p.Ser2053Arg
XM_011545046.1:c.6130A>C	XP_011543348.1:p.Ser2044Arg
XM_011545047.1:c.6067A>C	XP_011543349.1:p.Ser2023Arg
XM_011545048.1:c.5938A>C	XP_011543350.1:p.Ser1980Arg
XM_011545049.1:c.5926A>C	XP_011543351.1:p.Ser1976Arg
XM_011545050.1:c.5899A>C	XP_011543352.1:p.Ser1967Arg
XM_011545051.1:c.6163A>C	XP_011543353.1:p.Ser2055Arg
XR_949938.1:n.6483A>C
XR_949941.1:n.6457A>C
XM_011545044.2:c.6163A>C	XP_011543346.1:p.Ser2055Arg
XM_011545046.2:c.6253A>C	XP_011543348.2:p.Ser2085Arg
XM_011545050.2:c.5899A>C	XP_011543352.1:p.Ser1967Arg
XM_017017778.1:c.6247A>C	XP_016873267.1:p.Ser2083Arg
XM_017017779.1:c.6244A>C	XP_016873268.1:p.Ser2082Arg
XM_017017780.1:c.6253A>C	XP_016873269.1:p.Ser2085Arg
XM_017017781.1:c.6157A>C	XP_016873270.1:p.Ser2053Arg
XM_017017782.1:c.6139A>C	XP_016873271.1:p.Ser2047Arg
XM_017017783.1:c.6136A>C	XP_016873272.1:p.Ser2046Arg
XM_017017784.1:c.6136A>C	XP_016873273.1:p.Ser2046Arg
XM_017017785.1:c.6016A>C	XP_016873274.1:p.Ser2006Arg
XM_017017786.1:c.6253A>C	XP_016873275.1:p.Ser2085Arg
XM_017017788.1:c.6139A>C	XP_016873277.1:p.Ser2047Arg
XR_001747885.1:n.6242A>C
XR_001747886.1:n.6183A>C
XR_001747887.1:n.6228A>C
NM_000260.4:c.6163A>C MANE Select	NP_000251.3:p.Ser2055Arg
NM_001127180.2:c.6049A>C	NP_001120652.1:p.Ser2017Arg
NM_001369365.1:c.6016A>C	NP_001356294.1:p.Ser2006Arg