Canonical Allele Identifier: CA392508824

Gene: MYO5A

Linked Data

• ClinVar Variation Id: 242881
• ClinVar RCV Id: RCV000490925
• dbSNP Id: rs1114167290
• MyVariant Identifiers: chr15:g.52632432G>C (hg19) ; chr15:g.52340235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52340235G>C , CM000677.2:g.52340235G>C	GRCh38
NC_000015.9:g.52632432G>C , CM000677.1:g.52632432G>C	GRCh37
NC_000015.8:g.50419724G>C	NCBI36
NG_009887.1:g.193816C>G , LRG_86:g.193816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356338.11:c.4119C>G	ENSP00000348693.7:p.Ser1373Arg
ENST00000399228.6:c.633C>G	ENSP00000382174.2:p.Ser211Arg
ENST00000399229.7:c.801C>G	ENSP00000382175.3:p.Ser267Arg
ENST00000399231.8:c.4200C>G	ENSP00000382177.3:p.Ser1400Arg
ENST00000553916.6:c.4083C>G	ENSP00000451109.2:p.Ser1361Arg
ENST00000556196.6:c.*3803C>G	ENSP00000451178.1:n.*3803C>G
ENST00000685194.1:c.1755C>G	ENSP00000509314.1:p.Ser585Arg
ENST00000686171.1:c.261C>G	ENSP00000509118.1:p.Ser87Arg
ENST00000686603.1:n.470C>G
ENST00000686989.1:n.4410C>G
ENST00000687172.1:n.2362C>G
ENST00000687574.1:c.4119C>G	ENSP00000510312.1:p.Ser1373Arg
ENST00000688074.1:c.1827C>G	ENSP00000509404.1:p.Ser609Arg
ENST00000688792.1:n.2343C>G
ENST00000688798.1:c.342C>G	ENSP00000509340.1:p.Ser114Arg
ENST00000689601.1:n.3143C>G
ENST00000692556.1:c.4191C>G	ENSP00000510378.1:p.Ser1397Arg
ENST00000692646.1:c.1746C>G	ENSP00000510243.1:p.Ser582Arg
ENST00000399233.7:c.4200C>G MANE Select	ENSP00000382179.4:p.Ser1400Arg
ENST00000356338.10:c.4119C>G	ENSP00000348693.6:p.Ser1373Arg
ENST00000358212.10:c.4200C>G	ENSP00000350945.7:p.Ser1400Arg
ENST00000399228.5:c.570C>G	ENSP00000382174.1:p.Ser190Arg
ENST00000399229.6:c.390C>G	ENSP00000382175.2:p.Ser130Arg
ENST00000399231.7:c.4200C>G	ENSP00000382177.3:p.Ser1400Arg
ENST00000399233.6:c.4200C>G	ENSP00000382179.3:p.Ser1400Arg
ENST00000553916.5:c.4119C>G	ENSP00000451109.1:p.Ser1373Arg
ENST00000568914.1:c.579C>G	ENSP00000458016.1:p.Ser193Arg
ENST00000613858.4:c.4119C>G	ENSP00000481420.1:p.Ser1373Arg
NM_000259.3:c.4200C>G , LRG_86t1:c.4200C>G	NP_000250.3:p.Ser1400Arg
NM_001142495.1:c.4119C>G	NP_001135967.1:p.Ser1373Arg
XM_005254397.2:c.4200C>G	XP_005254454.1:p.Ser1400Arg
XM_005254398.3:c.4200C>G	XP_005254455.1:p.Ser1400Arg
XM_011521606.1:c.4206C>G	XP_011519908.1:p.Ser1402Arg
XM_011521607.1:c.4197C>G	XP_011519909.1:p.Ser1399Arg
XM_011521608.1:c.4206C>G	XP_011519910.1:p.Ser1402Arg
XM_011521609.1:c.4125C>G	XP_011519911.1:p.Ser1375Arg
XM_011521610.1:c.4197C>G	XP_011519912.1:p.Ser1399Arg
XM_011521611.1:c.4125C>G	XP_011519913.1:p.Ser1375Arg
XM_011521612.1:c.4116C>G	XP_011519914.1:p.Ser1372Arg
XM_005254397.4:c.4200C>G	XP_005254454.1:p.Ser1400Arg
XM_011521606.2:c.4272C>G	XP_011519908.2:p.Ser1424Arg
XM_011521607.3:c.4263C>G	XP_011519909.2:p.Ser1421Arg
XM_011521608.3:c.4272C>G	XP_011519910.2:p.Ser1424Arg
XM_011521609.3:c.4191C>G	XP_011519911.2:p.Ser1397Arg
XM_011521610.3:c.4263C>G	XP_011519912.2:p.Ser1421Arg
XM_011521611.3:c.4191C>G	XP_011519913.2:p.Ser1397Arg
XM_011521612.3:c.4182C>G	XP_011519914.2:p.Ser1394Arg
XM_017022227.2:c.4164C>G	XP_016877716.1:p.Ser1388Arg
NM_001142495.2:c.4119C>G	NP_001135967.2:p.Ser1373Arg
NM_001382347.1:c.4200C>G MANE Select	NP_001369276.1:p.Ser1400Arg
NM_001382348.1:c.4272C>G	NP_001369277.1:p.Ser1424Arg
NM_001382349.1:c.4272C>G	NP_001369278.1:p.Ser1424Arg