Canonical Allele Identifier: CA16609392

Gene: MYO6

Linked Data

• ClinVar Variation Id: 397508
• ClinVar RCV Id: RCV000449594
• dbSNP Id: rs1060499650
• MyVariant Identifiers: chr6:g.76545668T>A (hg19) ; chr6:g.75835951T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75835951T>A , CM000668.2:g.75835951T>A	GRCh38
NC_000006.11:g.76545668T>A , CM000668.1:g.76545668T>A	GRCh37
NC_000006.10:g.76602388T>A	NCBI36
NG_009934.1:g.91760T>A
NG_009934.2:g.91759T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.548T>A	ENSP00000358992.1:p.Val183Asp
ENST00000369977.8:c.548T>A MANE Select	ENSP00000358994.3:p.Val183Asp
ENST00000369985.9:c.548T>A	ENSP00000359002.3:p.Val183Asp
ENST00000462633.3:c.*90T>A	ENSP00000499616.2:n.*90T>A
ENST00000627432.3:c.548T>A	ENSP00000487348.2:p.Val183Asp
ENST00000653423.1:c.548T>A	ENSP00000499696.1:p.Val183Asp
ENST00000653917.1:c.548T>A	ENSP00000499623.1:p.Val183Asp
ENST00000660420.1:c.*504T>A	ENSP00000499263.1:n.*504T>A
ENST00000662184.1:c.548T>A	ENSP00000499732.1:p.Val183Asp
ENST00000662603.1:c.548T>A	ENSP00000499324.1:p.Val183Asp
ENST00000663400.1:c.548T>A	ENSP00000499736.1:p.Val183Asp
ENST00000664209.1:c.548T>A	ENSP00000499768.1:p.Val183Asp
ENST00000664640.1:c.548T>A	ENSP00000499278.1:p.Val183Asp
ENST00000671923.1:c.548T>A	ENSP00000500835.1:p.Val183Asp
ENST00000672093.1:c.548T>A	ENSP00000500710.1:p.Val183Asp
ENST00000369975.5:c.548T>A	ENSP00000358992.1:p.Val183Asp
ENST00000369977.7:c.548T>A	ENSP00000358994.3:p.Val183Asp
ENST00000369981.7:c.548T>A	ENSP00000358998.4:p.Val183Asp
ENST00000369985.8:c.548T>A	ENSP00000359002.3:p.Val183Asp
ENST00000615563.4:c.548T>A	ENSP00000478013.1:p.Val183Asp
ENST00000627432.2:c.548T>A	ENSP00000487348.1:p.Val183Asp
NM_001300899.1:c.548T>A	NP_001287828.1:p.Val183Asp
NM_004999.3:c.548T>A	NP_004990.3:p.Val183Asp
XM_005248719.2:c.548T>A	XP_005248776.1:p.Val183Asp
XM_005248720.2:c.548T>A	XP_005248777.1:p.Val183Asp
XM_005248721.2:c.548T>A	XP_005248778.1:p.Val183Asp
XM_005248722.2:c.548T>A	XP_005248779.1:p.Val183Asp
XM_005248724.2:c.548T>A	XP_005248781.1:p.Val183Asp
XM_005248726.2:c.548T>A	XP_005248783.1:p.Val183Asp
XM_005248719.4:c.548T>A	XP_005248776.1:p.Val183Asp
XM_005248720.4:c.548T>A	XP_005248777.1:p.Val183Asp
XM_005248721.4:c.548T>A	XP_005248778.1:p.Val183Asp
XM_005248722.4:c.548T>A	XP_005248779.1:p.Val183Asp
XM_005248724.4:c.548T>A	XP_005248781.1:p.Val183Asp
XM_005248726.4:c.548T>A	XP_005248783.1:p.Val183Asp
XM_017010899.2:c.548T>A	XP_016866388.1:p.Val183Asp
XM_024446447.1:c.548T>A	XP_024302215.1:p.Val183Asp
XM_024446448.1:c.548T>A	XP_024302216.1:p.Val183Asp
NM_004999.4:c.548T>A MANE Select	NP_004990.3:p.Val183Asp
NM_001300899.2:c.548T>A	NP_001287828.1:p.Val183Asp
NM_001368136.1:c.548T>A	NP_001355065.1:p.Val183Asp
NM_001368137.1:c.548T>A	NP_001355066.1:p.Val183Asp
NM_001368138.1:c.548T>A	NP_001355067.1:p.Val183Asp
NM_001368139.1:c.548T>A	NP_001355068.1:p.Val183Asp
NM_001368140.1:c.548T>A	NP_001355069.1:p.Val183Asp
NM_001368865.1:c.548T>A	NP_001355794.1:p.Val183Asp
NM_001368866.1:c.548T>A	NP_001355795.1:p.Val183Asp
NR_160538.1:n.780T>A
NR_160539.1:n.880T>A