Canonical Allele Identifier: CA3135088201

Gene: MYO6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75890237C= , CM000668.2:g.75890237C=	GRCh38
NC_000006.11:g.76599954C= , CM000668.1:g.76599954C=	GRCh37
NC_000006.10:g.76656674C=	NCBI36
NG_009934.1:g.146046C=
NG_009934.2:g.146045C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.2839C=	ENSP00000358992.1:p.Arg947=
ENST00000369977.8:c.2839C= MANE Select	ENSP00000358994.3:p.Arg947=
ENST00000369985.9:c.2839C=	ENSP00000359002.3:p.Arg947=
ENST00000627432.3:c.2848C=	ENSP00000487348.2:p.Arg950=
ENST00000664640.1:c.2839C=	ENSP00000499278.1:p.Arg947=
ENST00000671923.1:c.*946C=	ENSP00000500835.1:n.*946C=
ENST00000672093.1:c.2839C=	ENSP00000500710.1:p.Arg947=
ENST00000369975.5:c.2839C=	ENSP00000358992.1:p.Arg947=
ENST00000369977.7:c.2839C=	ENSP00000358994.3:p.Arg947=
ENST00000369981.7:c.2839C=	ENSP00000358998.4:p.Arg947=
ENST00000369985.8:c.2839C=	ENSP00000359002.3:p.Arg947=
ENST00000430435.1:c.28C=	ENSP00000399406.1:p.Arg10=
ENST00000615563.4:c.2839C=	ENSP00000478013.1:p.Arg947=
ENST00000627432.2:c.2839C=	ENSP00000487348.1:p.Arg947=
NM_001300899.1:c.2839C=	NP_001287828.1:p.Arg947=
NM_004999.3:c.2839C=	NP_004990.3:p.Arg947=
XM_005248719.2:c.2839C=	XP_005248776.1:p.Arg947=
XM_005248720.2:c.2839C=	XP_005248777.1:p.Arg947=
XM_005248721.2:c.2839C=	XP_005248778.1:p.Arg947=
XM_005248722.2:c.2839C=	XP_005248779.1:p.Arg947=
XM_005248724.2:c.2839C=	XP_005248781.1:p.Arg947=
XM_005248726.2:c.2839C=	XP_005248783.1:p.Arg947=
XM_005248719.4:c.2839C=	XP_005248776.1:p.Arg947=
XM_005248720.4:c.2839C=	XP_005248777.1:p.Arg947=
XM_005248721.4:c.2839C=	XP_005248778.1:p.Arg947=
XM_005248722.4:c.2839C=	XP_005248779.1:p.Arg947=
XM_005248724.4:c.2839C=	XP_005248781.1:p.Arg947=
XM_005248726.4:c.2839C=	XP_005248783.1:p.Arg947=
XM_017010899.2:c.2839C=	XP_016866388.1:p.Arg947=
XM_024446447.1:c.2839C=	XP_024302215.1:p.Arg947=
XM_024446448.1:c.2839C=	XP_024302216.1:p.Arg947=
NM_004999.4:c.2839C= MANE Select	NP_004990.3:p.Arg947=
NM_001300899.2:c.2839C=	NP_001287828.1:p.Arg947=
NM_001368136.1:c.2839C=	NP_001355065.1:p.Arg947=
NM_001368137.1:c.2839C=	NP_001355066.1:p.Arg947=
NM_001368138.1:c.2824C=	NP_001355067.1:p.Arg942=
NM_001368865.1:c.2839C=	NP_001355794.1:p.Arg947=
NM_001368866.1:c.2839C=	NP_001355795.1:p.Arg947=
NR_160538.1:n.3164C=