Canonical Allele Identifier: CA364762031
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914207C>A , CM000668.2:g.75914207C>A GRCh38
NC_000006.11:g.76623924C>A , CM000668.1:g.76623924C>A GRCh37
NC_000006.10:g.76680644C>A NCBI36
NG_009934.1:g.170016C>A
NG_009934.2:g.170015C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3488C>A ENSP00000358992.1:p.Ala1163Asp
ENST00000369977.8:c.3584C>A MANE Select ENSP00000358994.3:p.Ala1195Asp
ENST00000369985.9:c.3515C>A ENSP00000359002.3:p.Ala1172Asp
ENST00000664640.1:c.3611C>A ENSP00000499278.1:p.Ala1204Asp
ENST00000671923.1:c.*1595C>A ENSP00000500835.1:n.*1595C>A
ENST00000672093.1:c.3584C>A ENSP00000500710.1:p.Ala1195Asp
ENST00000672162.1:n.1750C>A
ENST00000369975.5:c.3488C>A ENSP00000358992.1:p.Ala1163Asp
ENST00000369977.7:c.3584C>A ENSP00000358994.3:p.Ala1195Asp
ENST00000369981.7:c.3614C>A ENSP00000358998.4:p.Ala1205Asp
ENST00000369985.8:c.3515C>A ENSP00000359002.3:p.Ala1172Asp
ENST00000615563.4:c.3515C>A ENSP00000478013.1:p.Ala1172Asp
ENST00000627432.2:c.3611C>A ENSP00000487348.1:p.Ala1204Asp
NM_001300899.1:c.3515C>A NP_001287828.1:p.Ala1172Asp
NM_004999.3:c.3584C>A NP_004990.3:p.Ala1195Asp
XM_005248719.2:c.3611C>A XP_005248776.1:p.Ala1204Asp
XM_005248720.2:c.3584C>A XP_005248777.1:p.Ala1195Asp
XM_005248721.2:c.3572C>A XP_005248778.1:p.Ala1191Asp
XM_005248722.2:c.3557C>A XP_005248779.1:p.Ala1186Asp
XM_005248724.2:c.3545C>A XP_005248781.1:p.Ala1182Asp
XM_005248726.2:c.3488C>A XP_005248783.1:p.Ala1163Asp
XM_005248719.4:c.3611C>A XP_005248776.1:p.Ala1204Asp
XM_005248720.4:c.3584C>A XP_005248777.1:p.Ala1195Asp
XM_005248721.4:c.3572C>A XP_005248778.1:p.Ala1191Asp
XM_005248722.4:c.3557C>A XP_005248779.1:p.Ala1186Asp
XM_005248724.4:c.3545C>A XP_005248781.1:p.Ala1182Asp
XM_005248726.4:c.3488C>A XP_005248783.1:p.Ala1163Asp
XM_017010899.2:c.3518C>A XP_016866388.1:p.Ala1173Asp
XM_024446447.1:c.3611C>A XP_024302215.1:p.Ala1204Asp
XM_024446448.1:c.3545C>A XP_024302216.1:p.Ala1182Asp
NM_004999.4:c.3584C>A MANE Select NP_004990.3:p.Ala1195Asp
NM_001300899.2:c.3515C>A NP_001287828.1:p.Ala1172Asp
NM_001368136.1:c.3488C>A NP_001355065.1:p.Ala1163Asp
NM_001368137.1:c.3545C>A NP_001355066.1:p.Ala1182Asp
NM_001368138.1:c.3500C>A NP_001355067.1:p.Ala1167Asp
NM_001368865.1:c.3611C>A NP_001355794.1:p.Ala1204Asp
NM_001368866.1:c.3584C>A NP_001355795.1:p.Ala1195Asp
NR_160538.1:n.3813C>A