Canonical Allele Identifier: CA828152902
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1193423721
gnomAD v3: 6-75913958-G-T
gnomAD v4: 6-75913958-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75913958G>T , CM000668.2:g.75913958G>T GRCh38
NC_000006.11:g.76623675G>T , CM000668.1:g.76623675G>T GRCh37
NC_000006.10:g.76680395G>T NCBI36
NG_009934.1:g.169767G>T
NG_009934.2:g.169766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3344-105G>T ENSP00000358992.1:n.3344-105G>T
ENST00000369977.8:c.3440-105G>T MANE Select ENSP00000358994.3:n.3440-105G>T
ENST00000369985.9:c.3371-105G>T ENSP00000359002.3:n.3371-105G>T
ENST00000664640.1:c.3467-105G>T ENSP00000499278.1:n.3467-105G>T
ENST00000671923.1:c.*1451-105G>T ENSP00000500835.1:n.*1451-105G>T
ENST00000672093.1:c.3440-105G>T ENSP00000500710.1:n.3440-105G>T
ENST00000672162.1:n.1606-105G>T
ENST00000369975.5:c.3344-105G>T ENSP00000358992.1:n.3344-105G>T
ENST00000369977.7:c.3440-105G>T ENSP00000358994.3:n.3440-105G>T
ENST00000369981.7:c.3470-105G>T ENSP00000358998.4:n.3470-105G>T
ENST00000369985.8:c.3371-105G>T ENSP00000359002.3:n.3371-105G>T
ENST00000615563.4:c.3371-105G>T ENSP00000478013.1:n.3371-105G>T
ENST00000627432.2:c.3467-105G>T ENSP00000487348.1:n.3467-105G>T
NM_001300899.1:c.3371-105G>T NP_001287828.1:n.3371-105G>T
NM_004999.3:c.3440-105G>T NP_004990.3:n.3440-105G>T
XM_005248719.2:c.3467-105G>T XP_005248776.1:n.3467-105G>T
XM_005248720.2:c.3440-105G>T XP_005248777.1:n.3440-105G>T
XM_005248721.2:c.3428-105G>T XP_005248778.1:n.3428-105G>T
XM_005248722.2:c.3413-105G>T XP_005248779.1:n.3413-105G>T
XM_005248724.2:c.3401-105G>T XP_005248781.1:n.3401-105G>T
XM_005248726.2:c.3344-105G>T XP_005248783.1:n.3344-105G>T
XM_005248719.4:c.3467-105G>T XP_005248776.1:n.3467-105G>T
XM_005248720.4:c.3440-105G>T XP_005248777.1:n.3440-105G>T
XM_005248721.4:c.3428-105G>T XP_005248778.1:n.3428-105G>T
XM_005248722.4:c.3413-105G>T XP_005248779.1:n.3413-105G>T
XM_005248724.4:c.3401-105G>T XP_005248781.1:n.3401-105G>T
XM_005248726.4:c.3344-105G>T XP_005248783.1:n.3344-105G>T
XM_017010899.2:c.3374-105G>T XP_016866388.1:n.3374-105G>T
XM_024446447.1:c.3467-105G>T XP_024302215.1:n.3467-105G>T
XM_024446448.1:c.3401-105G>T XP_024302216.1:n.3401-105G>T
NM_004999.4:c.3440-105G>T MANE Select NP_004990.3:n.3440-105G>T
NM_001300899.2:c.3371-105G>T NP_001287828.1:n.3371-105G>T
NM_001368136.1:c.3344-105G>T NP_001355065.1:n.3344-105G>T
NM_001368137.1:c.3401-105G>T NP_001355066.1:n.3401-105G>T
NM_001368138.1:c.3356-105G>T NP_001355067.1:n.3356-105G>T
NM_001368865.1:c.3467-105G>T NP_001355794.1:n.3467-105G>T
NM_001368866.1:c.3440-105G>T NP_001355795.1:n.3440-105G>T
NR_160538.1:n.3669-105G>T