Canonical Allele Identifier: CA364778401
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1778983315
MyVariant Identifiers: chr6:g.76602298C>T (hg19) chr6:g.75892581C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75892581C>T , CM000668.2:g.75892581C>T GRCh38
NC_000006.11:g.76602298C>T , CM000668.1:g.76602298C>T GRCh37
NC_000006.10:g.76659018C>T NCBI36
NG_009934.1:g.148390C>T
NG_009934.2:g.148389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.2998C>T ENSP00000358992.1:p.Gln1000Ter
ENST00000369977.8:c.2998C>T MANE Select ENSP00000358994.3:p.Gln1000Ter
ENST00000369985.9:c.2998C>T ENSP00000359002.3:p.Gln1000Ter
ENST00000664640.1:c.2998C>T ENSP00000499278.1:p.Gln1000Ter
ENST00000671923.1:c.*1105C>T ENSP00000500835.1:n.*1105C>T
ENST00000672093.1:c.2998C>T ENSP00000500710.1:p.Gln1000Ter
ENST00000369975.5:c.2998C>T ENSP00000358992.1:p.Gln1000Ter
ENST00000369977.7:c.2998C>T ENSP00000358994.3:p.Gln1000Ter
ENST00000369981.7:c.2998C>T ENSP00000358998.4:p.Gln1000Ter
ENST00000369985.8:c.2998C>T ENSP00000359002.3:p.Gln1000Ter
ENST00000430435.1:c.187C>T ENSP00000399406.1:p.Gln63Ter
ENST00000615563.4:c.2998C>T ENSP00000478013.1:p.Gln1000Ter
ENST00000627432.2:c.2998C>T ENSP00000487348.1:p.Gln1000Ter
NM_001300899.1:c.2998C>T NP_001287828.1:p.Gln1000Ter
NM_004999.3:c.2998C>T NP_004990.3:p.Gln1000Ter
XM_005248719.2:c.2998C>T XP_005248776.1:p.Gln1000Ter
XM_005248720.2:c.2998C>T XP_005248777.1:p.Gln1000Ter
XM_005248721.2:c.2998C>T XP_005248778.1:p.Gln1000Ter
XM_005248722.2:c.2998C>T XP_005248779.1:p.Gln1000Ter
XM_005248724.2:c.2998C>T XP_005248781.1:p.Gln1000Ter
XM_005248726.2:c.2998C>T XP_005248783.1:p.Gln1000Ter
XM_005248719.4:c.2998C>T XP_005248776.1:p.Gln1000Ter
XM_005248720.4:c.2998C>T XP_005248777.1:p.Gln1000Ter
XM_005248721.4:c.2998C>T XP_005248778.1:p.Gln1000Ter
XM_005248722.4:c.2998C>T XP_005248779.1:p.Gln1000Ter
XM_005248724.4:c.2998C>T XP_005248781.1:p.Gln1000Ter
XM_005248726.4:c.2998C>T XP_005248783.1:p.Gln1000Ter
XM_017010899.2:c.2998C>T XP_016866388.1:p.Gln1000Ter
XM_024446447.1:c.2998C>T XP_024302215.1:p.Gln1000Ter
XM_024446448.1:c.2998C>T XP_024302216.1:p.Gln1000Ter
NM_004999.4:c.2998C>T MANE Select NP_004990.3:p.Gln1000Ter
NM_001300899.2:c.2998C>T NP_001287828.1:p.Gln1000Ter
NM_001368136.1:c.2998C>T NP_001355065.1:p.Gln1000Ter
NM_001368137.1:c.2998C>T NP_001355066.1:p.Gln1000Ter
NM_001368138.1:c.2983C>T NP_001355067.1:p.Gln995Ter
NM_001368865.1:c.2998C>T NP_001355794.1:p.Gln1000Ter
NM_001368866.1:c.2998C>T NP_001355795.1:p.Gln1000Ter
NR_160538.1:n.3323C>T
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