Canonical Allele Identifier: CA364761478
Gene: MYO6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914131T>G , CM000668.2:g.75914131T>G GRCh38
NC_000006.11:g.76623848T>G , CM000668.1:g.76623848T>G GRCh37
NC_000006.10:g.76680568T>G NCBI36
NG_009934.1:g.169940T>G
NG_009934.2:g.169939T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3412T>G ENSP00000358992.1:p.Phe1138Val
ENST00000369977.8:c.3508T>G MANE Select ENSP00000358994.3:p.Phe1170Val
ENST00000369985.9:c.3439T>G ENSP00000359002.3:p.Phe1147Val
ENST00000664640.1:c.3535T>G ENSP00000499278.1:p.Phe1179Val
ENST00000671923.1:c.*1519T>G ENSP00000500835.1:n.*1519T>G
ENST00000672093.1:c.3508T>G ENSP00000500710.1:p.Phe1170Val
ENST00000672162.1:n.1674T>G
ENST00000369975.5:c.3412T>G ENSP00000358992.1:p.Phe1138Val
ENST00000369977.7:c.3508T>G ENSP00000358994.3:p.Phe1170Val
ENST00000369981.7:c.3538T>G ENSP00000358998.4:p.Phe1180Val
ENST00000369985.8:c.3439T>G ENSP00000359002.3:p.Phe1147Val
ENST00000615563.4:c.3439T>G ENSP00000478013.1:p.Phe1147Val
ENST00000627432.2:c.3535T>G ENSP00000487348.1:p.Phe1179Val
NM_001300899.1:c.3439T>G NP_001287828.1:p.Phe1147Val
NM_004999.3:c.3508T>G NP_004990.3:p.Phe1170Val
XM_005248719.2:c.3535T>G XP_005248776.1:p.Phe1179Val
XM_005248720.2:c.3508T>G XP_005248777.1:p.Phe1170Val
XM_005248721.2:c.3496T>G XP_005248778.1:p.Phe1166Val
XM_005248722.2:c.3481T>G XP_005248779.1:p.Phe1161Val
XM_005248724.2:c.3469T>G XP_005248781.1:p.Phe1157Val
XM_005248726.2:c.3412T>G XP_005248783.1:p.Phe1138Val
XM_005248719.4:c.3535T>G XP_005248776.1:p.Phe1179Val
XM_005248720.4:c.3508T>G XP_005248777.1:p.Phe1170Val
XM_005248721.4:c.3496T>G XP_005248778.1:p.Phe1166Val
XM_005248722.4:c.3481T>G XP_005248779.1:p.Phe1161Val
XM_005248724.4:c.3469T>G XP_005248781.1:p.Phe1157Val
XM_005248726.4:c.3412T>G XP_005248783.1:p.Phe1138Val
XM_017010899.2:c.3442T>G XP_016866388.1:p.Phe1148Val
XM_024446447.1:c.3535T>G XP_024302215.1:p.Phe1179Val
XM_024446448.1:c.3469T>G XP_024302216.1:p.Phe1157Val
NM_004999.4:c.3508T>G MANE Select NP_004990.3:p.Phe1170Val
NM_001300899.2:c.3439T>G NP_001287828.1:p.Phe1147Val
NM_001368136.1:c.3412T>G NP_001355065.1:p.Phe1138Val
NM_001368137.1:c.3469T>G NP_001355066.1:p.Phe1157Val
NM_001368138.1:c.3424T>G NP_001355067.1:p.Phe1142Val
NM_001368865.1:c.3535T>G NP_001355794.1:p.Phe1179Val
NM_001368866.1:c.3508T>G NP_001355795.1:p.Phe1170Val
NR_160538.1:n.3737T>G