Canonical Allele Identifier: CA364761684
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs776971894
gnomAD v2: 6-76623882-A-G
gnomAD v4: 6-75914165-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914165A>G , CM000668.2:g.75914165A>G GRCh38
NC_000006.11:g.76623882A>G , CM000668.1:g.76623882A>G GRCh37
NC_000006.10:g.76680602A>G NCBI36
NG_009934.1:g.169974A>G
NG_009934.2:g.169973A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3446A>G ENSP00000358992.1:p.Gln1149Arg
ENST00000369977.8:c.3542A>G MANE Select ENSP00000358994.3:p.Gln1181Arg
ENST00000369985.9:c.3473A>G ENSP00000359002.3:p.Gln1158Arg
ENST00000664640.1:c.3569A>G ENSP00000499278.1:p.Gln1190Arg
ENST00000671923.1:c.*1553A>G ENSP00000500835.1:n.*1553A>G
ENST00000672093.1:c.3542A>G ENSP00000500710.1:p.Gln1181Arg
ENST00000672162.1:n.1708A>G
ENST00000369975.5:c.3446A>G ENSP00000358992.1:p.Gln1149Arg
ENST00000369977.7:c.3542A>G ENSP00000358994.3:p.Gln1181Arg
ENST00000369981.7:c.3572A>G ENSP00000358998.4:p.Gln1191Arg
ENST00000369985.8:c.3473A>G ENSP00000359002.3:p.Gln1158Arg
ENST00000615563.4:c.3473A>G ENSP00000478013.1:p.Gln1158Arg
ENST00000627432.2:c.3569A>G ENSP00000487348.1:p.Gln1190Arg
NM_001300899.1:c.3473A>G NP_001287828.1:p.Gln1158Arg
NM_004999.3:c.3542A>G NP_004990.3:p.Gln1181Arg
XM_005248719.2:c.3569A>G XP_005248776.1:p.Gln1190Arg
XM_005248720.2:c.3542A>G XP_005248777.1:p.Gln1181Arg
XM_005248721.2:c.3530A>G XP_005248778.1:p.Gln1177Arg
XM_005248722.2:c.3515A>G XP_005248779.1:p.Gln1172Arg
XM_005248724.2:c.3503A>G XP_005248781.1:p.Gln1168Arg
XM_005248726.2:c.3446A>G XP_005248783.1:p.Gln1149Arg
XM_005248719.4:c.3569A>G XP_005248776.1:p.Gln1190Arg
XM_005248720.4:c.3542A>G XP_005248777.1:p.Gln1181Arg
XM_005248721.4:c.3530A>G XP_005248778.1:p.Gln1177Arg
XM_005248722.4:c.3515A>G XP_005248779.1:p.Gln1172Arg
XM_005248724.4:c.3503A>G XP_005248781.1:p.Gln1168Arg
XM_005248726.4:c.3446A>G XP_005248783.1:p.Gln1149Arg
XM_017010899.2:c.3476A>G XP_016866388.1:p.Gln1159Arg
XM_024446447.1:c.3569A>G XP_024302215.1:p.Gln1190Arg
XM_024446448.1:c.3503A>G XP_024302216.1:p.Gln1168Arg
NM_004999.4:c.3542A>G MANE Select NP_004990.3:p.Gln1181Arg
NM_001300899.2:c.3473A>G NP_001287828.1:p.Gln1158Arg
NM_001368136.1:c.3446A>G NP_001355065.1:p.Gln1149Arg
NM_001368137.1:c.3503A>G NP_001355066.1:p.Gln1168Arg
NM_001368138.1:c.3458A>G NP_001355067.1:p.Gln1153Arg
NM_001368865.1:c.3569A>G NP_001355794.1:p.Gln1190Arg
NM_001368866.1:c.3542A>G NP_001355795.1:p.Gln1181Arg
NR_160538.1:n.3771A>G