Canonical Allele Identifier: CA3897749

Gene: MYO6

Linked Data

• ClinVar Variation Id: 1254038
• ClinVar RCV Id: RCV001665182
• dbSNP Id: rs752568854
• ExAC: 6:76623854 C / T
• gnomAD v2: 6-76623854-C-T
• gnomAD v3: 6-75914137-C-T
• gnomAD v4: 6-75914137-C-T
• MyVariant Identifiers: chr6:g.76623854C>T (hg19) ; chr6:g.75914137C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3418C>T	ENSP00000358992.1:p.Arg1140Cys
ENST00000369977.8:c.3514C>T MANE Select	ENSP00000358994.3:p.Arg1172Cys
ENST00000369985.9:c.3445C>T	ENSP00000359002.3:p.Arg1149Cys
ENST00000664640.1:c.3541C>T	ENSP00000499278.1:p.Arg1181Cys
ENST00000671923.1:c.*1525C>T	ENSP00000500835.1:n.*1525C>T
ENST00000672093.1:c.3514C>T	ENSP00000500710.1:p.Arg1172Cys
ENST00000672162.1:n.1680C>T
ENST00000369975.5:c.3418C>T	ENSP00000358992.1:p.Arg1140Cys
ENST00000369977.7:c.3514C>T	ENSP00000358994.3:p.Arg1172Cys
ENST00000369981.7:c.3544C>T	ENSP00000358998.4:p.Arg1182Cys
ENST00000369985.8:c.3445C>T	ENSP00000359002.3:p.Arg1149Cys
ENST00000615563.4:c.3445C>T	ENSP00000478013.1:p.Arg1149Cys
ENST00000627432.2:c.3541C>T	ENSP00000487348.1:p.Arg1181Cys
NM_001300899.1:c.3445C>T	NP_001287828.1:p.Arg1149Cys
NM_004999.3:c.3514C>T	NP_004990.3:p.Arg1172Cys
XM_005248719.2:c.3541C>T	XP_005248776.1:p.Arg1181Cys
XM_005248720.2:c.3514C>T	XP_005248777.1:p.Arg1172Cys
XM_005248721.2:c.3502C>T	XP_005248778.1:p.Arg1168Cys
XM_005248722.2:c.3487C>T	XP_005248779.1:p.Arg1163Cys
XM_005248724.2:c.3475C>T	XP_005248781.1:p.Arg1159Cys
XM_005248726.2:c.3418C>T	XP_005248783.1:p.Arg1140Cys
XM_005248719.4:c.3541C>T	XP_005248776.1:p.Arg1181Cys
XM_005248720.4:c.3514C>T	XP_005248777.1:p.Arg1172Cys
XM_005248721.4:c.3502C>T	XP_005248778.1:p.Arg1168Cys
XM_005248722.4:c.3487C>T	XP_005248779.1:p.Arg1163Cys
XM_005248724.4:c.3475C>T	XP_005248781.1:p.Arg1159Cys
XM_005248726.4:c.3418C>T	XP_005248783.1:p.Arg1140Cys
XM_017010899.2:c.3448C>T	XP_016866388.1:p.Arg1150Cys
XM_024446447.1:c.3541C>T	XP_024302215.1:p.Arg1181Cys
XM_024446448.1:c.3475C>T	XP_024302216.1:p.Arg1159Cys
NM_004999.4:c.3514C>T MANE Select	NP_004990.3:p.Arg1172Cys
NM_001300899.2:c.3445C>T	NP_001287828.1:p.Arg1149Cys
NM_001368136.1:c.3418C>T	NP_001355065.1:p.Arg1140Cys
NM_001368137.1:c.3475C>T	NP_001355066.1:p.Arg1159Cys
NM_001368138.1:c.3430C>T	NP_001355067.1:p.Arg1144Cys
NM_001368865.1:c.3541C>T	NP_001355794.1:p.Arg1181Cys
NM_001368866.1:c.3514C>T	NP_001355795.1:p.Arg1172Cys
NR_160538.1:n.3743C>T