Canonical Allele Identifier: CA3897770

Gene: MYO6

Linked Data

• dbSNP Id: rs757272222
• ExAC: 6:76623951 G / A
• gnomAD v2: 6-76623951-G-A
• gnomAD v4: 6-75914234-G-A
• MyVariant Identifiers: chr6:g.76623951G>A (hg19) ; chr6:g.75914234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914234G>A , CM000668.2:g.75914234G>A	GRCh38
NC_000006.11:g.76623951G>A , CM000668.1:g.76623951G>A	GRCh37
NC_000006.10:g.76680671G>A	NCBI36
NG_009934.1:g.170043G>A
NG_009934.2:g.170042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3515G>A	ENSP00000358992.1:p.Arg1172Gln
ENST00000369977.8:c.3611G>A MANE Select	ENSP00000358994.3:p.Arg1204Gln
ENST00000369985.9:c.3542G>A	ENSP00000359002.3:p.Arg1181Gln
ENST00000664640.1:c.3638G>A	ENSP00000499278.1:p.Arg1213Gln
ENST00000671923.1:c.*1622G>A	ENSP00000500835.1:n.*1622G>A
ENST00000672093.1:c.3611G>A	ENSP00000500710.1:p.Arg1204Gln
ENST00000672162.1:n.1777G>A
ENST00000369975.5:c.3515G>A	ENSP00000358992.1:p.Arg1172Gln
ENST00000369977.7:c.3611G>A	ENSP00000358994.3:p.Arg1204Gln
ENST00000369981.7:c.3641G>A	ENSP00000358998.4:p.Arg1214Gln
ENST00000369985.8:c.3542G>A	ENSP00000359002.3:p.Arg1181Gln
ENST00000615563.4:c.3542G>A	ENSP00000478013.1:p.Arg1181Gln
ENST00000627432.2:c.3638G>A	ENSP00000487348.1:p.Arg1213Gln
NM_001300899.1:c.3542G>A	NP_001287828.1:p.Arg1181Gln
NM_004999.3:c.3611G>A	NP_004990.3:p.Arg1204Gln
XM_005248719.2:c.3638G>A	XP_005248776.1:p.Arg1213Gln
XM_005248720.2:c.3611G>A	XP_005248777.1:p.Arg1204Gln
XM_005248721.2:c.3599G>A	XP_005248778.1:p.Arg1200Gln
XM_005248722.2:c.3584G>A	XP_005248779.1:p.Arg1195Gln
XM_005248724.2:c.3572G>A	XP_005248781.1:p.Arg1191Gln
XM_005248726.2:c.3515G>A	XP_005248783.1:p.Arg1172Gln
XM_005248719.4:c.3638G>A	XP_005248776.1:p.Arg1213Gln
XM_005248720.4:c.3611G>A	XP_005248777.1:p.Arg1204Gln
XM_005248721.4:c.3599G>A	XP_005248778.1:p.Arg1200Gln
XM_005248722.4:c.3584G>A	XP_005248779.1:p.Arg1195Gln
XM_005248724.4:c.3572G>A	XP_005248781.1:p.Arg1191Gln
XM_005248726.4:c.3515G>A	XP_005248783.1:p.Arg1172Gln
XM_017010899.2:c.3545G>A	XP_016866388.1:p.Arg1182Gln
XM_024446447.1:c.3638G>A	XP_024302215.1:p.Arg1213Gln
XM_024446448.1:c.3572G>A	XP_024302216.1:p.Arg1191Gln
NM_004999.4:c.3611G>A MANE Select	NP_004990.3:p.Arg1204Gln
NM_001300899.2:c.3542G>A	NP_001287828.1:p.Arg1181Gln
NM_001368136.1:c.3515G>A	NP_001355065.1:p.Arg1172Gln
NM_001368137.1:c.3572G>A	NP_001355066.1:p.Arg1191Gln
NM_001368138.1:c.3527G>A	NP_001355067.1:p.Arg1176Gln
NM_001368865.1:c.3638G>A	NP_001355794.1:p.Arg1213Gln
NM_001368866.1:c.3611G>A	NP_001355795.1:p.Arg1204Gln
NR_160538.1:n.3840G>A