Canonical Allele Identifier: CA254503
Gene: MYO6 HGNC NCBI

Linked Data

ClinVar Variation Id: 8577
ClinVar RCV Id: RCV000009108
dbSNP Id: rs121912557

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75857198G>A , CM000668.2:g.75857198G>A GRCh38
NC_000006.11:g.76566915G>A , CM000668.1:g.76566915G>A GRCh37
NC_000006.10:g.76623635G>A NCBI36
NG_009934.1:g.113007G>A
NG_009934.2:g.113006G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369975.6:c.1325G>A ENSP00000358992.1:p.Cys442Tyr
ENST00000369977.8:c.1325G>A MANE Select ENSP00000358994.3:p.Cys442Tyr
ENST00000369985.9:c.1325G>A ENSP00000359002.3:p.Cys442Tyr
ENST00000462633.3:c.*881G>A ENSP00000499616.2:n.*881G>A
ENST00000627432.3:c.1334G>A ENSP00000487348.2:p.Cys445Tyr
ENST00000653423.1:c.1325G>A ENSP00000499696.1:p.Cys442Tyr
ENST00000653917.1:c.1334G>A ENSP00000499623.1:p.Cys445Tyr
ENST00000660420.1:c.*1281G>A ENSP00000499263.1:n.*1281G>A
ENST00000662184.1:c.1244G>A ENSP00000499732.1:p.Cys415Tyr
ENST00000662603.1:c.1325G>A ENSP00000499324.1:p.Cys442Tyr
ENST00000663400.1:c.1325G>A ENSP00000499736.1:p.Cys442Tyr
ENST00000664209.1:c.1325G>A ENSP00000499768.1:p.Cys442Tyr
ENST00000664640.1:c.1325G>A ENSP00000499278.1:p.Cys442Tyr
ENST00000671923.1:c.1325G>A ENSP00000500835.1:p.Cys442Tyr
ENST00000672093.1:c.1325G>A ENSP00000500710.1:p.Cys442Tyr
ENST00000369975.5:c.1325G>A ENSP00000358992.1:p.Cys442Tyr
ENST00000369977.7:c.1325G>A ENSP00000358994.3:p.Cys442Tyr
ENST00000369981.7:c.1325G>A ENSP00000358998.4:p.Cys442Tyr
ENST00000369985.8:c.1325G>A ENSP00000359002.3:p.Cys442Tyr
ENST00000615563.4:c.1325G>A ENSP00000478013.1:p.Cys442Tyr
ENST00000627432.2:c.1325G>A ENSP00000487348.1:p.Cys442Tyr
NM_001300899.1:c.1325G>A NP_001287828.1:p.Cys442Tyr
NM_004999.3:c.1325G>A NP_004990.3:p.Cys442Tyr
XM_005248719.2:c.1325G>A XP_005248776.1:p.Cys442Tyr
XM_005248720.2:c.1325G>A XP_005248777.1:p.Cys442Tyr
XM_005248721.2:c.1325G>A XP_005248778.1:p.Cys442Tyr
XM_005248722.2:c.1325G>A XP_005248779.1:p.Cys442Tyr
XM_005248724.2:c.1325G>A XP_005248781.1:p.Cys442Tyr
XM_005248726.2:c.1325G>A XP_005248783.1:p.Cys442Tyr
XM_005248719.4:c.1325G>A XP_005248776.1:p.Cys442Tyr
XM_005248720.4:c.1325G>A XP_005248777.1:p.Cys442Tyr
XM_005248721.4:c.1325G>A XP_005248778.1:p.Cys442Tyr
XM_005248722.4:c.1325G>A XP_005248779.1:p.Cys442Tyr
XM_005248724.4:c.1325G>A XP_005248781.1:p.Cys442Tyr
XM_005248726.4:c.1325G>A XP_005248783.1:p.Cys442Tyr
XM_017010899.2:c.1325G>A XP_016866388.1:p.Cys442Tyr
XM_024446447.1:c.1325G>A XP_024302215.1:p.Cys442Tyr
XM_024446448.1:c.1325G>A XP_024302216.1:p.Cys442Tyr
NM_004999.4:c.1325G>A MANE Select NP_004990.3:p.Cys442Tyr
NM_001300899.2:c.1325G>A NP_001287828.1:p.Cys442Tyr
NM_001368136.1:c.1325G>A NP_001355065.1:p.Cys442Tyr
NM_001368137.1:c.1325G>A NP_001355066.1:p.Cys442Tyr
NM_001368138.1:c.1310G>A NP_001355067.1:p.Cys437Tyr
NM_001368865.1:c.1325G>A NP_001355794.1:p.Cys442Tyr
NM_001368866.1:c.1325G>A NP_001355795.1:p.Cys442Tyr
NR_160538.1:n.1557G>A