Canonical Allele Identifier: CA1984122999
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs1591460855

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77199834T>G , CM000673.2:g.77199834T>G GRCh38
NC_000011.9:g.76910879T>G , CM000673.1:g.76910879T>G GRCh37
NC_000011.8:g.76588527T>G NCBI36
NG_009086.1:g.76570T>G
NG_009086.2:g.76589T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.4852+16T>G MANE Select ENSP00000386331.3:n.4852+16T>G
ENST00000670577.1:c.2693+16T>G
ENST00000409619.6:c.4705+16T>G ENSP00000386635.2:n.4705+16T>G
ENST00000409709.7:c.4852+16T>G ENSP00000386331.3:n.4852+16T>G
ENST00000458169.2:c.2281+16T>G ENSP00000417017.2:n.2281+16T>G
ENST00000458637.6:c.4738+16T>G ENSP00000392185.2:n.4738+16T>G
ENST00000481328.7:n.2391+16T>G
NM_000260.3:c.4852+16T>G NP_000251.3:n.4852+16T>G
NM_001127180.1:c.4738+16T>G NP_001120652.1:n.4738+16T>G
XM_005274012.2:c.4738+16T>G XP_005274069.1:n.4738+16T>G
XM_006718558.2:c.4846+16T>G XP_006718621.1:n.4846+16T>G
XM_006718559.2:c.4738+16T>G XP_006718622.1:n.4738+16T>G
XM_006718560.2:c.4738+16T>G XP_006718623.1:n.4738+16T>G
XM_006718561.2:c.4738+16T>G XP_006718624.1:n.4738+16T>G
XM_011545044.1:c.4852+16T>G XP_011543346.1:n.4852+16T>G
XM_011545045.1:c.4846+16T>G XP_011543347.1:n.4846+16T>G
XM_011545046.1:c.4819+16T>G XP_011543348.1:n.4819+16T>G
XM_011545047.1:c.4756+16T>G XP_011543349.1:n.4756+16T>G
XM_011545048.1:c.4627+16T>G XP_011543350.1:n.4627+16T>G
XM_011545049.1:c.4615+16T>G XP_011543351.1:n.4615+16T>G
XM_011545050.1:c.4588+16T>G XP_011543352.1:n.4588+16T>G
XM_011545051.1:c.4852+16T>G XP_011543353.1:n.4852+16T>G
XM_011545052.1:c.4852+16T>G XP_011543354.1:n.4852+16T>G
XR_949938.1:n.5172+16T>G
XR_949941.1:n.5172+16T>G
XR_949942.1:n.5174+16T>G
XM_011545044.2:c.4852+16T>G XP_011543346.1:n.4852+16T>G
XM_011545046.2:c.4942+16T>G XP_011543348.2:n.4942+16T>G
XM_011545050.2:c.4588+16T>G XP_011543352.1:n.4588+16T>G
XM_017017778.1:c.4936+16T>G XP_016873267.1:n.4936+16T>G
XM_017017779.1:c.4936+16T>G XP_016873268.1:n.4936+16T>G
XM_017017780.1:c.4942+16T>G XP_016873269.1:n.4942+16T>G
XM_017017781.1:c.4846+16T>G XP_016873270.1:n.4846+16T>G
XM_017017782.1:c.4828+16T>G XP_016873271.1:n.4828+16T>G
XM_017017783.1:c.4828+16T>G XP_016873272.1:n.4828+16T>G
XM_017017784.1:c.4828+16T>G XP_016873273.1:n.4828+16T>G
XM_017017785.1:c.4705+16T>G XP_016873274.1:n.4705+16T>G
XM_017017786.1:c.4942+16T>G XP_016873275.1:n.4942+16T>G
XM_017017788.1:c.4828+16T>G XP_016873277.1:n.4828+16T>G
XR_001747885.1:n.4957+16T>G
XR_001747886.1:n.4957+16T>G
XR_001747887.1:n.4957+16T>G
XR_001747888.1:n.4957+16T>G
NM_000260.4:c.4852+16T>G MANE Select NP_000251.3:n.4852+16T>G
NM_001127180.2:c.4738+16T>G NP_001120652.1:n.4738+16T>G
NM_001369365.1:c.4705+16T>G NP_001356294.1:n.4705+16T>G