Canonical Allele Identifier: CA475796638
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76910817G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77199772G>C , CM000673.2:g.77199772G>C GRCh38
NC_000011.9:g.76910817G>C , CM000673.1:g.76910817G>C GRCh37
NC_000011.8:g.76588465G>C NCBI36
NG_009086.1:g.76508G>C
NG_009086.2:g.76527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.4806G>C MANE Select ENSP00000386331.3:p.Arg1602=
ENST00000670577.1:c.2647G>C
ENST00000409619.6:c.4659G>C ENSP00000386635.2:p.Arg1553=
ENST00000409709.7:c.4806G>C ENSP00000386331.3:p.Arg1602=
ENST00000458169.2:c.2235G>C ENSP00000417017.2:p.Arg745=
ENST00000458637.6:c.4692G>C ENSP00000392185.2:p.Arg1564=
ENST00000481328.7:n.2345G>C
NM_000260.3:c.4806G>C NP_000251.3:p.Arg1602=
NM_001127180.1:c.4692G>C NP_001120652.1:p.Arg1564=
XM_005274012.2:c.4692G>C XP_005274069.1:p.Arg1564=
XM_006718558.2:c.4800G>C XP_006718621.1:p.Arg1600=
XM_006718559.2:c.4692G>C XP_006718622.1:p.Arg1564=
XM_006718560.2:c.4692G>C XP_006718623.1:p.Arg1564=
XM_006718561.2:c.4692G>C XP_006718624.1:p.Arg1564=
XM_011545044.1:c.4806G>C XP_011543346.1:p.Arg1602=
XM_011545045.1:c.4800G>C XP_011543347.1:p.Arg1600=
XM_011545046.1:c.4773G>C XP_011543348.1:p.Arg1591=
XM_011545047.1:c.4710G>C XP_011543349.1:p.Arg1570=
XM_011545048.1:c.4581G>C XP_011543350.1:p.Arg1527=
XM_011545049.1:c.4569G>C XP_011543351.1:p.Arg1523=
XM_011545050.1:c.4542G>C XP_011543352.1:p.Arg1514=
XM_011545051.1:c.4806G>C XP_011543353.1:p.Arg1602=
XM_011545052.1:c.4806G>C XP_011543354.1:p.Arg1602=
XR_949938.1:n.5126G>C
XR_949941.1:n.5126G>C
XR_949942.1:n.5128G>C
XM_011545044.2:c.4806G>C XP_011543346.1:p.Arg1602=
XM_011545046.2:c.4896G>C XP_011543348.2:p.Arg1632=
XM_011545050.2:c.4542G>C XP_011543352.1:p.Arg1514=
XM_017017778.1:c.4890G>C XP_016873267.1:p.Arg1630=
XM_017017779.1:c.4890G>C XP_016873268.1:p.Arg1630=
XM_017017780.1:c.4896G>C XP_016873269.1:p.Arg1632=
XM_017017781.1:c.4800G>C XP_016873270.1:p.Arg1600=
XM_017017782.1:c.4782G>C XP_016873271.1:p.Arg1594=
XM_017017783.1:c.4782G>C XP_016873272.1:p.Arg1594=
XM_017017784.1:c.4782G>C XP_016873273.1:p.Arg1594=
XM_017017785.1:c.4659G>C XP_016873274.1:p.Arg1553=
XM_017017786.1:c.4896G>C XP_016873275.1:p.Arg1632=
XM_017017788.1:c.4782G>C XP_016873277.1:p.Arg1594=
XR_001747885.1:n.4911G>C
XR_001747886.1:n.4911G>C
XR_001747887.1:n.4911G>C
XR_001747888.1:n.4911G>C
NM_000260.4:c.4806G>C MANE Select NP_000251.3:p.Arg1602=
NM_001127180.2:c.4692G>C NP_001120652.1:p.Arg1564=
NM_001369365.1:c.4659G>C NP_001356294.1:p.Arg1553=