Canonical Allele Identifier: CA3897740
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs771613333
gnomAD v2: 6-76623813-G-C
gnomAD v4: 6-75914096-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914096G>C , CM000668.2:g.75914096G>C GRCh38
NC_000006.11:g.76623813G>C , CM000668.1:g.76623813G>C GRCh37
NC_000006.10:g.76680533G>C NCBI36
NG_009934.1:g.169905G>C
NG_009934.2:g.169904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3377G>C ENSP00000358992.1:p.Arg1126Thr
ENST00000369977.8:c.3473G>C MANE Select ENSP00000358994.3:p.Arg1158Thr
ENST00000369985.9:c.3404G>C ENSP00000359002.3:p.Arg1135Thr
ENST00000664640.1:c.3500G>C ENSP00000499278.1:p.Arg1167Thr
ENST00000671923.1:c.*1484G>C ENSP00000500835.1:n.*1484G>C
ENST00000672093.1:c.3473G>C ENSP00000500710.1:p.Arg1158Thr
ENST00000672162.1:n.1639G>C
ENST00000369975.5:c.3377G>C ENSP00000358992.1:p.Arg1126Thr
ENST00000369977.7:c.3473G>C ENSP00000358994.3:p.Arg1158Thr
ENST00000369981.7:c.3503G>C ENSP00000358998.4:p.Arg1168Thr
ENST00000369985.8:c.3404G>C ENSP00000359002.3:p.Arg1135Thr
ENST00000615563.4:c.3404G>C ENSP00000478013.1:p.Arg1135Thr
ENST00000627432.2:c.3500G>C ENSP00000487348.1:p.Arg1167Thr
NM_001300899.1:c.3404G>C NP_001287828.1:p.Arg1135Thr
NM_004999.3:c.3473G>C NP_004990.3:p.Arg1158Thr
XM_005248719.2:c.3500G>C XP_005248776.1:p.Arg1167Thr
XM_005248720.2:c.3473G>C XP_005248777.1:p.Arg1158Thr
XM_005248721.2:c.3461G>C XP_005248778.1:p.Arg1154Thr
XM_005248722.2:c.3446G>C XP_005248779.1:p.Arg1149Thr
XM_005248724.2:c.3434G>C XP_005248781.1:p.Arg1145Thr
XM_005248726.2:c.3377G>C XP_005248783.1:p.Arg1126Thr
XM_005248719.4:c.3500G>C XP_005248776.1:p.Arg1167Thr
XM_005248720.4:c.3473G>C XP_005248777.1:p.Arg1158Thr
XM_005248721.4:c.3461G>C XP_005248778.1:p.Arg1154Thr
XM_005248722.4:c.3446G>C XP_005248779.1:p.Arg1149Thr
XM_005248724.4:c.3434G>C XP_005248781.1:p.Arg1145Thr
XM_005248726.4:c.3377G>C XP_005248783.1:p.Arg1126Thr
XM_017010899.2:c.3407G>C XP_016866388.1:p.Arg1136Thr
XM_024446447.1:c.3500G>C XP_024302215.1:p.Arg1167Thr
XM_024446448.1:c.3434G>C XP_024302216.1:p.Arg1145Thr
NM_004999.4:c.3473G>C MANE Select NP_004990.3:p.Arg1158Thr
NM_001300899.2:c.3404G>C NP_001287828.1:p.Arg1135Thr
NM_001368136.1:c.3377G>C NP_001355065.1:p.Arg1126Thr
NM_001368137.1:c.3434G>C NP_001355066.1:p.Arg1145Thr
NM_001368138.1:c.3389G>C NP_001355067.1:p.Arg1130Thr
NM_001368865.1:c.3500G>C NP_001355794.1:p.Arg1167Thr
NM_001368866.1:c.3473G>C NP_001355795.1:p.Arg1158Thr
NR_160538.1:n.3702G>C