Canonical Allele Identifier: CA364760999
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914065C>A , CM000668.2:g.75914065C>A GRCh38
NC_000006.11:g.76623782C>A , CM000668.1:g.76623782C>A GRCh37
NC_000006.10:g.76680502C>A NCBI36
NG_009934.1:g.169874C>A
NG_009934.2:g.169873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3346C>A ENSP00000358992.1:p.Gln1116Lys
ENST00000369977.8:c.3442C>A MANE Select ENSP00000358994.3:p.Gln1148Lys
ENST00000369985.9:c.3373C>A ENSP00000359002.3:p.Gln1125Lys
ENST00000664640.1:c.3469C>A ENSP00000499278.1:p.Gln1157Lys
ENST00000671923.1:c.*1453C>A ENSP00000500835.1:n.*1453C>A
ENST00000672093.1:c.3442C>A ENSP00000500710.1:p.Gln1148Lys
ENST00000672162.1:n.1608C>A
ENST00000369975.5:c.3346C>A ENSP00000358992.1:p.Gln1116Lys
ENST00000369977.7:c.3442C>A ENSP00000358994.3:p.Gln1148Lys
ENST00000369981.7:c.3472C>A ENSP00000358998.4:p.Gln1158Lys
ENST00000369985.8:c.3373C>A ENSP00000359002.3:p.Gln1125Lys
ENST00000615563.4:c.3373C>A ENSP00000478013.1:p.Gln1125Lys
ENST00000627432.2:c.3469C>A ENSP00000487348.1:p.Gln1157Lys
NM_001300899.1:c.3373C>A NP_001287828.1:p.Gln1125Lys
NM_004999.3:c.3442C>A NP_004990.3:p.Gln1148Lys
XM_005248719.2:c.3469C>A XP_005248776.1:p.Gln1157Lys
XM_005248720.2:c.3442C>A XP_005248777.1:p.Gln1148Lys
XM_005248721.2:c.3430C>A XP_005248778.1:p.Gln1144Lys
XM_005248722.2:c.3415C>A XP_005248779.1:p.Gln1139Lys
XM_005248724.2:c.3403C>A XP_005248781.1:p.Gln1135Lys
XM_005248726.2:c.3346C>A XP_005248783.1:p.Gln1116Lys
XM_005248719.4:c.3469C>A XP_005248776.1:p.Gln1157Lys
XM_005248720.4:c.3442C>A XP_005248777.1:p.Gln1148Lys
XM_005248721.4:c.3430C>A XP_005248778.1:p.Gln1144Lys
XM_005248722.4:c.3415C>A XP_005248779.1:p.Gln1139Lys
XM_005248724.4:c.3403C>A XP_005248781.1:p.Gln1135Lys
XM_005248726.4:c.3346C>A XP_005248783.1:p.Gln1116Lys
XM_017010899.2:c.3376C>A XP_016866388.1:p.Gln1126Lys
XM_024446447.1:c.3469C>A XP_024302215.1:p.Gln1157Lys
XM_024446448.1:c.3403C>A XP_024302216.1:p.Gln1135Lys
NM_004999.4:c.3442C>A MANE Select NP_004990.3:p.Gln1148Lys
NM_001300899.2:c.3373C>A NP_001287828.1:p.Gln1125Lys
NM_001368136.1:c.3346C>A NP_001355065.1:p.Gln1116Lys
NM_001368137.1:c.3403C>A NP_001355066.1:p.Gln1135Lys
NM_001368138.1:c.3358C>A NP_001355067.1:p.Gln1120Lys
NM_001368865.1:c.3469C>A NP_001355794.1:p.Gln1157Lys
NM_001368866.1:c.3442C>A NP_001355795.1:p.Gln1148Lys
NR_160538.1:n.3671C>A