Canonical Allele Identifier: CA7569047

Gene: MYO5A

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52397434T>G , CM000677.2:g.52397434T>G	GRCh38
NC_000015.9:g.52689631T>G , CM000677.1:g.52689631T>G	GRCh37
NC_000015.8:g.50476923T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356338.11:c.1086A>C	ENSP00000348693.7:p.Glu362Asp
ENST00000399231.8:c.1086A>C	ENSP00000382177.3:p.Glu362Asp
ENST00000553916.6:c.978A>C	ENSP00000451109.2:p.Glu326Asp
ENST00000556196.6:c.*770A>C	ENSP00000451178.1:n.*770A>C
ENST00000685053.1:c.1086A>C	ENSP00000510081.1:p.Glu362Asp
ENST00000687574.1:c.1086A>C	ENSP00000510312.1:p.Glu362Asp
ENST00000687728.1:c.1086A>C	ENSP00000509083.1:p.Glu362Asp
ENST00000687748.1:c.945A>C	ENSP00000509068.1:p.Glu315Asp
ENST00000689526.1:c.1086A>C	ENSP00000510068.1:p.Glu362Asp
ENST00000690537.1:n.521A>C
ENST00000691521.1:n.2770A>C
ENST00000692201.1:n.728A>C
ENST00000692556.1:c.1086A>C	ENSP00000510378.1:p.Glu362Asp
ENST00000692708.1:c.140A>C
ENST00000399233.7:c.1086A>C MANE Select	ENSP00000382179.4:p.Glu362Asp
ENST00000356338.10:c.1086A>C	ENSP00000348693.6:p.Glu362Asp
ENST00000358212.10:c.1086A>C	ENSP00000350945.7:p.Glu362Asp
ENST00000399231.7:c.1086A>C	ENSP00000382177.3:p.Glu362Asp
ENST00000399233.6:c.1086A>C	ENSP00000382179.3:p.Glu362Asp
ENST00000553916.5:c.1086A>C	ENSP00000451109.1:p.Glu362Asp
ENST00000556196.5:c.*770A>C	ENSP00000451178.1:n.*770A>C
ENST00000613858.4:c.1086A>C	ENSP00000481420.1:p.Glu362Asp
XM_005254397.2:c.1086A>C	XP_005254454.1:p.Glu362Asp
XM_005254398.3:c.1086A>C	XP_005254455.1:p.Glu362Asp
XM_011521606.1:c.1092A>C	XP_011519908.1:p.Glu364Asp
XM_011521607.1:c.1092A>C	XP_011519909.1:p.Glu364Asp
XM_011521608.1:c.1092A>C	XP_011519910.1:p.Glu364Asp
XM_011521609.1:c.1092A>C	XP_011519911.1:p.Glu364Asp
XM_011521610.1:c.1092A>C	XP_011519912.1:p.Glu364Asp
XM_011521611.1:c.1092A>C	XP_011519913.1:p.Glu364Asp
XM_011521612.1:c.1092A>C	XP_011519914.1:p.Glu364Asp
XM_005254397.4:c.1086A>C	XP_005254454.1:p.Glu362Asp
XM_011521606.2:c.1158A>C	XP_011519908.2:p.Glu386Asp
XM_011521607.3:c.1158A>C	XP_011519909.2:p.Glu386Asp
XM_011521608.3:c.1158A>C	XP_011519910.2:p.Glu386Asp
XM_011521609.3:c.1158A>C	XP_011519911.2:p.Glu386Asp
XM_011521610.3:c.1158A>C	XP_011519912.2:p.Glu386Asp
XM_011521611.3:c.1158A>C	XP_011519913.2:p.Glu386Asp
XM_011521612.3:c.1158A>C	XP_011519914.2:p.Glu386Asp
XM_017022227.2:c.1050A>C	XP_016877716.1:p.Glu350Asp
NM_001142495.2:c.1086A>C	NP_001135967.2:p.Glu362Asp
NM_001382347.1:c.1086A>C MANE Select	NP_001369276.1:p.Glu362Asp
NM_001382348.1:c.1158A>C	NP_001369277.1:p.Glu386Asp
NM_001382349.1:c.1158A>C	NP_001369278.1:p.Glu386Asp