Canonical Allele Identifier: CA261711
Gene: MYO6 HGNC NCBI

Linked Data

ClinVar Variation Id: 45141
ClinVar RCV Id: RCV000038290
dbSNP Id: rs397517045

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75879853dup , CM000668.2:g.75879853dup GRCh38
NC_000006.11:g.76589570dup , CM000668.1:g.76589570dup GRCh37
NC_000006.10:g.76646290dup NCBI36
NG_009934.1:g.135662dup
NG_009934.2:g.135661dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369975.6:c.2111dup ENSP00000358992.1:p.Tyr705LeufsTer9
ENST00000369977.8:c.2111dup MANE Select ENSP00000358994.3:p.Tyr705LeufsTer9
ENST00000369985.9:c.2111dup ENSP00000359002.3:p.Tyr705LeufsTer9
ENST00000462633.3:c.*1667dup ENSP00000499616.2:n.*1667dup
ENST00000627432.3:c.2120dup ENSP00000487348.2:p.Tyr708LeufsTer9
ENST00000653423.1:c.2111dup ENSP00000499696.1:p.Tyr705LeufsTer9
ENST00000653917.1:c.*218dup ENSP00000499623.1:n.*218dup
ENST00000660420.1:c.*2067dup ENSP00000499263.1:n.*2067dup
ENST00000662184.1:c.*218dup ENSP00000499732.1:n.*218dup
ENST00000662603.1:c.2111dup ENSP00000499324.1:p.Tyr705LeufsTer9
ENST00000663400.1:c.*136dup ENSP00000499736.1:n.*136dup
ENST00000664209.1:c.2111dup ENSP00000499768.1:p.Tyr705LeufsTer9
ENST00000664640.1:c.2111dup ENSP00000499278.1:p.Tyr705LeufsTer9
ENST00000671923.1:c.*218dup ENSP00000500835.1:n.*218dup
ENST00000672093.1:c.2111dup ENSP00000500710.1:p.Tyr705LeufsTer9
ENST00000369975.5:c.2111dup ENSP00000358992.1:p.Tyr705LeufsTer9
ENST00000369977.7:c.2111dup ENSP00000358994.3:p.Tyr705LeufsTer9
ENST00000369981.7:c.2111dup ENSP00000358998.4:p.Tyr705LeufsTer9
ENST00000369985.8:c.2111dup ENSP00000359002.3:p.Tyr705LeufsTer9
ENST00000462633.1:n.306dup
ENST00000615563.4:c.2111dup ENSP00000478013.1:p.Tyr705LeufsTer9
ENST00000627432.2:c.2111dup ENSP00000487348.1:p.Tyr705LeufsTer9
NM_001300899.1:c.2111dup NP_001287828.1:p.Tyr705LeufsTer9
NM_004999.3:c.2111dup NP_004990.3:p.Tyr705LeufsTer9
XM_005248719.2:c.2111dup XP_005248776.1:p.Tyr705LeufsTer9
XM_005248720.2:c.2111dup XP_005248777.1:p.Tyr705LeufsTer9
XM_005248721.2:c.2111dup XP_005248778.1:p.Tyr705LeufsTer9
XM_005248722.2:c.2111dup XP_005248779.1:p.Tyr705LeufsTer9
XM_005248724.2:c.2111dup XP_005248781.1:p.Tyr705LeufsTer9
XM_005248726.2:c.2111dup XP_005248783.1:p.Tyr705LeufsTer9
XM_005248719.4:c.2111dup XP_005248776.1:p.Tyr705LeufsTer9
XM_005248720.4:c.2111dup XP_005248777.1:p.Tyr705LeufsTer9
XM_005248721.4:c.2111dup XP_005248778.1:p.Tyr705LeufsTer9
XM_005248722.4:c.2111dup XP_005248779.1:p.Tyr705LeufsTer9
XM_005248724.4:c.2111dup XP_005248781.1:p.Tyr705LeufsTer9
XM_005248726.4:c.2111dup XP_005248783.1:p.Tyr705LeufsTer9
XM_017010899.2:c.2111dup XP_016866388.1:p.Tyr705LeufsTer9
XM_024446447.1:c.2111dup XP_024302215.1:p.Tyr705LeufsTer9
XM_024446448.1:c.2111dup XP_024302216.1:p.Tyr705LeufsTer9
NM_004999.4:c.2111dup MANE Select NP_004990.3:p.Tyr705LeufsTer9
NM_001300899.2:c.2111dup NP_001287828.1:p.Tyr705LeufsTer9
NM_001368136.1:c.2111dup NP_001355065.1:p.Tyr705LeufsTer9
NM_001368137.1:c.2111dup NP_001355066.1:p.Tyr705LeufsTer9
NM_001368138.1:c.2096dup NP_001355067.1:p.Tyr700LeufsTer9
NM_001368865.1:c.2111dup NP_001355794.1:p.Tyr705LeufsTer9
NM_001368866.1:c.2111dup NP_001355795.1:p.Tyr705LeufsTer9
NR_160538.1:n.2436dup