Canonical Allele Identifier: CA364761794
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914179C>T , CM000668.2:g.75914179C>T GRCh38
NC_000006.11:g.76623896C>T , CM000668.1:g.76623896C>T GRCh37
NC_000006.10:g.76680616C>T NCBI36
NG_009934.1:g.169988C>T
NG_009934.2:g.169987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3460C>T ENSP00000358992.1:p.Gln1154Ter
ENST00000369977.8:c.3556C>T MANE Select ENSP00000358994.3:p.Gln1186Ter
ENST00000369985.9:c.3487C>T ENSP00000359002.3:p.Gln1163Ter
ENST00000664640.1:c.3583C>T ENSP00000499278.1:p.Gln1195Ter
ENST00000671923.1:c.*1567C>T ENSP00000500835.1:n.*1567C>T
ENST00000672093.1:c.3556C>T ENSP00000500710.1:p.Gln1186Ter
ENST00000672162.1:n.1722C>T
ENST00000369975.5:c.3460C>T ENSP00000358992.1:p.Gln1154Ter
ENST00000369977.7:c.3556C>T ENSP00000358994.3:p.Gln1186Ter
ENST00000369981.7:c.3586C>T ENSP00000358998.4:p.Gln1196Ter
ENST00000369985.8:c.3487C>T ENSP00000359002.3:p.Gln1163Ter
ENST00000615563.4:c.3487C>T ENSP00000478013.1:p.Gln1163Ter
ENST00000627432.2:c.3583C>T ENSP00000487348.1:p.Gln1195Ter
NM_001300899.1:c.3487C>T NP_001287828.1:p.Gln1163Ter
NM_004999.3:c.3556C>T NP_004990.3:p.Gln1186Ter
XM_005248719.2:c.3583C>T XP_005248776.1:p.Gln1195Ter
XM_005248720.2:c.3556C>T XP_005248777.1:p.Gln1186Ter
XM_005248721.2:c.3544C>T XP_005248778.1:p.Gln1182Ter
XM_005248722.2:c.3529C>T XP_005248779.1:p.Gln1177Ter
XM_005248724.2:c.3517C>T XP_005248781.1:p.Gln1173Ter
XM_005248726.2:c.3460C>T XP_005248783.1:p.Gln1154Ter
XM_005248719.4:c.3583C>T XP_005248776.1:p.Gln1195Ter
XM_005248720.4:c.3556C>T XP_005248777.1:p.Gln1186Ter
XM_005248721.4:c.3544C>T XP_005248778.1:p.Gln1182Ter
XM_005248722.4:c.3529C>T XP_005248779.1:p.Gln1177Ter
XM_005248724.4:c.3517C>T XP_005248781.1:p.Gln1173Ter
XM_005248726.4:c.3460C>T XP_005248783.1:p.Gln1154Ter
XM_017010899.2:c.3490C>T XP_016866388.1:p.Gln1164Ter
XM_024446447.1:c.3583C>T XP_024302215.1:p.Gln1195Ter
XM_024446448.1:c.3517C>T XP_024302216.1:p.Gln1173Ter
NM_004999.4:c.3556C>T MANE Select NP_004990.3:p.Gln1186Ter
NM_001300899.2:c.3487C>T NP_001287828.1:p.Gln1163Ter
NM_001368136.1:c.3460C>T NP_001355065.1:p.Gln1154Ter
NM_001368137.1:c.3517C>T NP_001355066.1:p.Gln1173Ter
NM_001368138.1:c.3472C>T NP_001355067.1:p.Gln1158Ter
NM_001368865.1:c.3583C>T NP_001355794.1:p.Gln1195Ter
NM_001368866.1:c.3556C>T NP_001355795.1:p.Gln1186Ter
NR_160538.1:n.3785C>T