Canonical Allele Identifier: CA1090687129
Gene: MYO6 HGNC NCBI

Linked Data

gnomAD v3: 6-75919084-A-C
gnomAD v4: 6-75919084-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75919084A>C , CM000668.2:g.75919084A>C GRCh38
NC_000006.11:g.76628801A>C , CM000668.1:g.76628801A>C GRCh37
NC_000006.10:g.76685521A>C NCBI36
NG_009934.1:g.174893A>C
NG_009934.2:g.174892A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369977.8:c.*4072A>C MANE Select ENSP00000358994.3:n.*4072A>C
ENST00000369985.9:c.*4072A>C ENSP00000359002.3:n.*4072A>C
ENST00000664640.1:c.*4072A>C ENSP00000499278.1:n.*4072A>C
ENST00000369981.7:c.*4072A>C ENSP00000358998.4:n.*4072A>C
ENST00000369985.8:c.*4072A>C ENSP00000359002.3:n.*4072A>C
NM_001300899.1:c.*4072A>C NP_001287828.1:n.*4072A>C
NM_004999.3:c.*4072A>C NP_004990.3:n.*4072A>C
XM_005248719.4:c.*4072A>C XP_005248776.1:n.*4072A>C
XM_005248720.4:c.*4072A>C XP_005248777.1:n.*4072A>C
XM_005248721.4:c.*4072A>C XP_005248778.1:n.*4072A>C
XM_005248722.4:c.*4072A>C XP_005248779.1:n.*4072A>C
XM_005248724.4:c.*4072A>C XP_005248781.1:n.*4072A>C
XM_005248726.4:c.*4072A>C XP_005248783.1:n.*4072A>C
XM_017010899.2:c.*4072A>C XP_016866388.1:n.*4072A>C
XM_024446447.1:c.*4072A>C XP_024302215.1:n.*4072A>C
XM_024446448.1:c.*4072A>C XP_024302216.1:n.*4072A>C
NM_004999.4:c.*4072A>C MANE Select NP_004990.3:n.*4072A>C
NM_001300899.2:c.*4072A>C NP_001287828.1:n.*4072A>C
NM_001368136.1:c.*4072A>C NP_001355065.1:n.*4072A>C
NM_001368137.1:c.*4072A>C NP_001355066.1:n.*4072A>C
NM_001368138.1:c.*4072A>C NP_001355067.1:n.*4072A>C
NM_001368865.1:c.*4072A>C NP_001355794.1:n.*4072A>C
NM_001368866.1:c.*4072A>C NP_001355795.1:n.*4072A>C
NR_160538.1:n.8159A>C