Canonical Allele Identifier: CA364761071
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914077G>A , CM000668.2:g.75914077G>A GRCh38
NC_000006.11:g.76623794G>A , CM000668.1:g.76623794G>A GRCh37
NC_000006.10:g.76680514G>A NCBI36
NG_009934.1:g.169886G>A
NG_009934.2:g.169885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3358G>A ENSP00000358992.1:p.Ala1120Thr
ENST00000369977.8:c.3454G>A MANE Select ENSP00000358994.3:p.Ala1152Thr
ENST00000369985.9:c.3385G>A ENSP00000359002.3:p.Ala1129Thr
ENST00000664640.1:c.3481G>A ENSP00000499278.1:p.Ala1161Thr
ENST00000671923.1:c.*1465G>A ENSP00000500835.1:n.*1465G>A
ENST00000672093.1:c.3454G>A ENSP00000500710.1:p.Ala1152Thr
ENST00000672162.1:n.1620G>A
ENST00000369975.5:c.3358G>A ENSP00000358992.1:p.Ala1120Thr
ENST00000369977.7:c.3454G>A ENSP00000358994.3:p.Ala1152Thr
ENST00000369981.7:c.3484G>A ENSP00000358998.4:p.Ala1162Thr
ENST00000369985.8:c.3385G>A ENSP00000359002.3:p.Ala1129Thr
ENST00000615563.4:c.3385G>A ENSP00000478013.1:p.Ala1129Thr
ENST00000627432.2:c.3481G>A ENSP00000487348.1:p.Ala1161Thr
NM_001300899.1:c.3385G>A NP_001287828.1:p.Ala1129Thr
NM_004999.3:c.3454G>A NP_004990.3:p.Ala1152Thr
XM_005248719.2:c.3481G>A XP_005248776.1:p.Ala1161Thr
XM_005248720.2:c.3454G>A XP_005248777.1:p.Ala1152Thr
XM_005248721.2:c.3442G>A XP_005248778.1:p.Ala1148Thr
XM_005248722.2:c.3427G>A XP_005248779.1:p.Ala1143Thr
XM_005248724.2:c.3415G>A XP_005248781.1:p.Ala1139Thr
XM_005248726.2:c.3358G>A XP_005248783.1:p.Ala1120Thr
XM_005248719.4:c.3481G>A XP_005248776.1:p.Ala1161Thr
XM_005248720.4:c.3454G>A XP_005248777.1:p.Ala1152Thr
XM_005248721.4:c.3442G>A XP_005248778.1:p.Ala1148Thr
XM_005248722.4:c.3427G>A XP_005248779.1:p.Ala1143Thr
XM_005248724.4:c.3415G>A XP_005248781.1:p.Ala1139Thr
XM_005248726.4:c.3358G>A XP_005248783.1:p.Ala1120Thr
XM_017010899.2:c.3388G>A XP_016866388.1:p.Ala1130Thr
XM_024446447.1:c.3481G>A XP_024302215.1:p.Ala1161Thr
XM_024446448.1:c.3415G>A XP_024302216.1:p.Ala1139Thr
NM_004999.4:c.3454G>A MANE Select NP_004990.3:p.Ala1152Thr
NM_001300899.2:c.3385G>A NP_001287828.1:p.Ala1129Thr
NM_001368136.1:c.3358G>A NP_001355065.1:p.Ala1120Thr
NM_001368137.1:c.3415G>A NP_001355066.1:p.Ala1139Thr
NM_001368138.1:c.3370G>A NP_001355067.1:p.Ala1124Thr
NM_001368865.1:c.3481G>A NP_001355794.1:p.Ala1161Thr
NM_001368866.1:c.3454G>A NP_001355795.1:p.Ala1152Thr
NR_160538.1:n.3683G>A