Canonical Allele Identifier: CA364761827
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914181G>C , CM000668.2:g.75914181G>C GRCh38
NC_000006.11:g.76623898G>C , CM000668.1:g.76623898G>C GRCh37
NC_000006.10:g.76680618G>C NCBI36
NG_009934.1:g.169990G>C
NG_009934.2:g.169989G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3462G>C ENSP00000358992.1:p.Gln1154His
ENST00000369977.8:c.3558G>C MANE Select ENSP00000358994.3:p.Gln1186His
ENST00000369985.9:c.3489G>C ENSP00000359002.3:p.Gln1163His
ENST00000664640.1:c.3585G>C ENSP00000499278.1:p.Gln1195His
ENST00000671923.1:c.*1569G>C ENSP00000500835.1:n.*1569G>C
ENST00000672093.1:c.3558G>C ENSP00000500710.1:p.Gln1186His
ENST00000672162.1:n.1724G>C
ENST00000369975.5:c.3462G>C ENSP00000358992.1:p.Gln1154His
ENST00000369977.7:c.3558G>C ENSP00000358994.3:p.Gln1186His
ENST00000369981.7:c.3588G>C ENSP00000358998.4:p.Gln1196His
ENST00000369985.8:c.3489G>C ENSP00000359002.3:p.Gln1163His
ENST00000615563.4:c.3489G>C ENSP00000478013.1:p.Gln1163His
ENST00000627432.2:c.3585G>C ENSP00000487348.1:p.Gln1195His
NM_001300899.1:c.3489G>C NP_001287828.1:p.Gln1163His
NM_004999.3:c.3558G>C NP_004990.3:p.Gln1186His
XM_005248719.2:c.3585G>C XP_005248776.1:p.Gln1195His
XM_005248720.2:c.3558G>C XP_005248777.1:p.Gln1186His
XM_005248721.2:c.3546G>C XP_005248778.1:p.Gln1182His
XM_005248722.2:c.3531G>C XP_005248779.1:p.Gln1177His
XM_005248724.2:c.3519G>C XP_005248781.1:p.Gln1173His
XM_005248726.2:c.3462G>C XP_005248783.1:p.Gln1154His
XM_005248719.4:c.3585G>C XP_005248776.1:p.Gln1195His
XM_005248720.4:c.3558G>C XP_005248777.1:p.Gln1186His
XM_005248721.4:c.3546G>C XP_005248778.1:p.Gln1182His
XM_005248722.4:c.3531G>C XP_005248779.1:p.Gln1177His
XM_005248724.4:c.3519G>C XP_005248781.1:p.Gln1173His
XM_005248726.4:c.3462G>C XP_005248783.1:p.Gln1154His
XM_017010899.2:c.3492G>C XP_016866388.1:p.Gln1164His
XM_024446447.1:c.3585G>C XP_024302215.1:p.Gln1195His
XM_024446448.1:c.3519G>C XP_024302216.1:p.Gln1173His
NM_004999.4:c.3558G>C MANE Select NP_004990.3:p.Gln1186His
NM_001300899.2:c.3489G>C NP_001287828.1:p.Gln1163His
NM_001368136.1:c.3462G>C NP_001355065.1:p.Gln1154His
NM_001368137.1:c.3519G>C NP_001355066.1:p.Gln1173His
NM_001368138.1:c.3474G>C NP_001355067.1:p.Gln1158His
NM_001368865.1:c.3585G>C NP_001355794.1:p.Gln1195His
NM_001368866.1:c.3558G>C NP_001355795.1:p.Gln1186His
NR_160538.1:n.3787G>C