Canonical Allele Identifier: CA828156288
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1268410243
gnomAD v3: 6-75918884-C-T
gnomAD v4: 6-75918884-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75918884C>T , CM000668.2:g.75918884C>T GRCh38
NC_000006.11:g.76628601C>T , CM000668.1:g.76628601C>T GRCh37
NC_000006.10:g.76685321C>T NCBI36
NG_009934.1:g.174693C>T
NG_009934.2:g.174692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369977.8:c.*3872C>T MANE Select ENSP00000358994.3:n.*3872C>T
ENST00000369985.9:c.*3872C>T ENSP00000359002.3:n.*3872C>T
ENST00000664640.1:c.*3872C>T ENSP00000499278.1:n.*3872C>T
ENST00000369981.7:c.*3872C>T ENSP00000358998.4:n.*3872C>T
ENST00000369985.8:c.*3872C>T ENSP00000359002.3:n.*3872C>T
NM_001300899.1:c.*3872C>T NP_001287828.1:n.*3872C>T
NM_004999.3:c.*3872C>T NP_004990.3:n.*3872C>T
XM_005248719.4:c.*3872C>T XP_005248776.1:n.*3872C>T
XM_005248720.4:c.*3872C>T XP_005248777.1:n.*3872C>T
XM_005248721.4:c.*3872C>T XP_005248778.1:n.*3872C>T
XM_005248722.4:c.*3872C>T XP_005248779.1:n.*3872C>T
XM_005248724.4:c.*3872C>T XP_005248781.1:n.*3872C>T
XM_005248726.4:c.*3872C>T XP_005248783.1:n.*3872C>T
XM_017010899.2:c.*3872C>T XP_016866388.1:n.*3872C>T
XM_024446447.1:c.*3872C>T XP_024302215.1:n.*3872C>T
XM_024446448.1:c.*3872C>T XP_024302216.1:n.*3872C>T
NM_004999.4:c.*3872C>T MANE Select NP_004990.3:n.*3872C>T
NM_001300899.2:c.*3872C>T NP_001287828.1:n.*3872C>T
NM_001368136.1:c.*3872C>T NP_001355065.1:n.*3872C>T
NM_001368137.1:c.*3872C>T NP_001355066.1:n.*3872C>T
NM_001368138.1:c.*3872C>T NP_001355067.1:n.*3872C>T
NM_001368865.1:c.*3872C>T NP_001355794.1:n.*3872C>T
NM_001368866.1:c.*3872C>T NP_001355795.1:n.*3872C>T
NR_160538.1:n.7959C>T