Canonical Allele Identifier: CA3897744

Gene: MYO6

Linked Data

• dbSNP Id: rs769185775
• ExAC: 6:76623837 G / T
• gnomAD v2: 6-76623837-G-T
• gnomAD v4: 6-75914120-G-T
• COSMIC: COSM1446017 ; COSM4357101
• MyVariant Identifiers: chr6:g.76623837G>T (hg19) ; chr6:g.75914120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914120G>T , CM000668.2:g.75914120G>T	GRCh38
NC_000006.11:g.76623837G>T , CM000668.1:g.76623837G>T	GRCh37
NC_000006.10:g.76680557G>T	NCBI36
NG_009934.1:g.169929G>T
NG_009934.2:g.169928G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369975.6:c.3401G>T	ENSP00000358992.1:p.Arg1134Leu
ENST00000369977.8:c.3497G>T MANE Select	ENSP00000358994.3:p.Arg1166Leu
ENST00000369985.9:c.3428G>T	ENSP00000359002.3:p.Arg1143Leu
ENST00000664640.1:c.3524G>T	ENSP00000499278.1:p.Arg1175Leu
ENST00000671923.1:c.*1508G>T	ENSP00000500835.1:n.*1508G>T
ENST00000672093.1:c.3497G>T	ENSP00000500710.1:p.Arg1166Leu
ENST00000672162.1:n.1663G>T
ENST00000369975.5:c.3401G>T	ENSP00000358992.1:p.Arg1134Leu
ENST00000369977.7:c.3497G>T	ENSP00000358994.3:p.Arg1166Leu
ENST00000369981.7:c.3527G>T	ENSP00000358998.4:p.Arg1176Leu
ENST00000369985.8:c.3428G>T	ENSP00000359002.3:p.Arg1143Leu
ENST00000615563.4:c.3428G>T	ENSP00000478013.1:p.Arg1143Leu
ENST00000627432.2:c.3524G>T	ENSP00000487348.1:p.Arg1175Leu
NM_001300899.1:c.3428G>T	NP_001287828.1:p.Arg1143Leu
NM_004999.3:c.3497G>T	NP_004990.3:p.Arg1166Leu
XM_005248719.2:c.3524G>T	XP_005248776.1:p.Arg1175Leu
XM_005248720.2:c.3497G>T	XP_005248777.1:p.Arg1166Leu
XM_005248721.2:c.3485G>T	XP_005248778.1:p.Arg1162Leu
XM_005248722.2:c.3470G>T	XP_005248779.1:p.Arg1157Leu
XM_005248724.2:c.3458G>T	XP_005248781.1:p.Arg1153Leu
XM_005248726.2:c.3401G>T	XP_005248783.1:p.Arg1134Leu
XM_005248719.4:c.3524G>T	XP_005248776.1:p.Arg1175Leu
XM_005248720.4:c.3497G>T	XP_005248777.1:p.Arg1166Leu
XM_005248721.4:c.3485G>T	XP_005248778.1:p.Arg1162Leu
XM_005248722.4:c.3470G>T	XP_005248779.1:p.Arg1157Leu
XM_005248724.4:c.3458G>T	XP_005248781.1:p.Arg1153Leu
XM_005248726.4:c.3401G>T	XP_005248783.1:p.Arg1134Leu
XM_017010899.2:c.3431G>T	XP_016866388.1:p.Arg1144Leu
XM_024446447.1:c.3524G>T	XP_024302215.1:p.Arg1175Leu
XM_024446448.1:c.3458G>T	XP_024302216.1:p.Arg1153Leu
NM_004999.4:c.3497G>T MANE Select	NP_004990.3:p.Arg1166Leu
NM_001300899.2:c.3428G>T	NP_001287828.1:p.Arg1143Leu
NM_001368136.1:c.3401G>T	NP_001355065.1:p.Arg1134Leu
NM_001368137.1:c.3458G>T	NP_001355066.1:p.Arg1153Leu
NM_001368138.1:c.3413G>T	NP_001355067.1:p.Arg1138Leu
NM_001368865.1:c.3524G>T	NP_001355794.1:p.Arg1175Leu
NM_001368866.1:c.3497G>T	NP_001355795.1:p.Arg1166Leu
NR_160538.1:n.3726G>T