Canonical Allele Identifier: CA141060174

Gene: MYO6

Linked Data

• dbSNP Id: rs752568854
• gnomAD v4: 6-75914137-C-G
• MyVariant Identifiers: chr6:g.76623854C>G (hg19) ; chr6:g.75914137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914137C>G , CM000668.2:g.75914137C>G	GRCh38
NC_000006.11:g.76623854C>G , CM000668.1:g.76623854C>G	GRCh37
NC_000006.10:g.76680574C>G	NCBI36
NG_009934.1:g.169946C>G
NG_009934.2:g.169945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3418C>G	ENSP00000358992.1:p.Arg1140Gly
ENST00000369977.8:c.3514C>G MANE Select	ENSP00000358994.3:p.Arg1172Gly
ENST00000369985.9:c.3445C>G	ENSP00000359002.3:p.Arg1149Gly
ENST00000664640.1:c.3541C>G	ENSP00000499278.1:p.Arg1181Gly
ENST00000671923.1:c.*1525C>G	ENSP00000500835.1:n.*1525C>G
ENST00000672093.1:c.3514C>G	ENSP00000500710.1:p.Arg1172Gly
ENST00000672162.1:n.1680C>G
ENST00000369975.5:c.3418C>G	ENSP00000358992.1:p.Arg1140Gly
ENST00000369977.7:c.3514C>G	ENSP00000358994.3:p.Arg1172Gly
ENST00000369981.7:c.3544C>G	ENSP00000358998.4:p.Arg1182Gly
ENST00000369985.8:c.3445C>G	ENSP00000359002.3:p.Arg1149Gly
ENST00000615563.4:c.3445C>G	ENSP00000478013.1:p.Arg1149Gly
ENST00000627432.2:c.3541C>G	ENSP00000487348.1:p.Arg1181Gly
NM_001300899.1:c.3445C>G	NP_001287828.1:p.Arg1149Gly
NM_004999.3:c.3514C>G	NP_004990.3:p.Arg1172Gly
XM_005248719.2:c.3541C>G	XP_005248776.1:p.Arg1181Gly
XM_005248720.2:c.3514C>G	XP_005248777.1:p.Arg1172Gly
XM_005248721.2:c.3502C>G	XP_005248778.1:p.Arg1168Gly
XM_005248722.2:c.3487C>G	XP_005248779.1:p.Arg1163Gly
XM_005248724.2:c.3475C>G	XP_005248781.1:p.Arg1159Gly
XM_005248726.2:c.3418C>G	XP_005248783.1:p.Arg1140Gly
XM_005248719.4:c.3541C>G	XP_005248776.1:p.Arg1181Gly
XM_005248720.4:c.3514C>G	XP_005248777.1:p.Arg1172Gly
XM_005248721.4:c.3502C>G	XP_005248778.1:p.Arg1168Gly
XM_005248722.4:c.3487C>G	XP_005248779.1:p.Arg1163Gly
XM_005248724.4:c.3475C>G	XP_005248781.1:p.Arg1159Gly
XM_005248726.4:c.3418C>G	XP_005248783.1:p.Arg1140Gly
XM_017010899.2:c.3448C>G	XP_016866388.1:p.Arg1150Gly
XM_024446447.1:c.3541C>G	XP_024302215.1:p.Arg1181Gly
XM_024446448.1:c.3475C>G	XP_024302216.1:p.Arg1159Gly
NM_004999.4:c.3514C>G MANE Select	NP_004990.3:p.Arg1172Gly
NM_001300899.2:c.3445C>G	NP_001287828.1:p.Arg1149Gly
NM_001368136.1:c.3418C>G	NP_001355065.1:p.Arg1140Gly
NM_001368137.1:c.3475C>G	NP_001355066.1:p.Arg1159Gly
NM_001368138.1:c.3430C>G	NP_001355067.1:p.Arg1144Gly
NM_001368865.1:c.3541C>G	NP_001355794.1:p.Arg1181Gly
NM_001368866.1:c.3514C>G	NP_001355795.1:p.Arg1172Gly
NR_160538.1:n.3743C>G