Canonical Allele Identifier: CA228990

Gene: MYO5A

Linked Data

• ClinVar Variation Id: 100805
• ClinVar RCV Id: RCV000087163
• dbSNP Id: rs483352686
• gnomAD v4: 15-52375308-C-A
• MyVariant Identifiers: chr15:g.52667505C>A (hg19) ; chr15:g.52375308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52375308C>A , CM000677.2:g.52375308C>A	GRCh38
NC_000015.9:g.52667505C>A , CM000677.1:g.52667505C>A	GRCh37
NC_000015.8:g.50454797C>A	NCBI36
NG_009887.1:g.158743G>T , LRG_86:g.158743G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356338.11:c.2573G>T	ENSP00000348693.7:p.Arg858Leu
ENST00000399231.8:c.2573G>T	ENSP00000382177.3:p.Arg858Leu
ENST00000553916.6:c.2465G>T	ENSP00000451109.2:p.Arg822Leu
ENST00000556196.6:c.*2257G>T	ENSP00000451178.1:n.*2257G>T
ENST00000685053.1:c.2573G>T	ENSP00000510081.1:p.Arg858Leu
ENST00000685194.1:c.209G>T	ENSP00000509314.1:p.Arg70Leu
ENST00000685996.1:c.365G>T	ENSP00000509305.1:p.Arg122Leu
ENST00000686796.1:n.1434G>T
ENST00000687574.1:c.2573G>T	ENSP00000510312.1:p.Arg858Leu
ENST00000688010.1:n.2321G>T
ENST00000688074.1:c.209G>T	ENSP00000509404.1:p.Arg70Leu
ENST00000688792.1:n.716G>T
ENST00000688841.1:c.365G>T	ENSP00000508514.1:p.Arg122Leu
ENST00000689601.1:n.1597G>T
ENST00000689897.1:c.365G>T	ENSP00000509082.1:p.Arg122Leu
ENST00000691073.1:n.1053G>T
ENST00000691448.1:c.365G>T	ENSP00000508899.1:p.Arg122Leu
ENST00000692324.1:c.719G>T
ENST00000692556.1:c.2573G>T	ENSP00000510378.1:p.Arg858Leu
ENST00000692646.1:c.209G>T	ENSP00000510243.1:p.Arg70Leu
ENST00000399233.7:c.2573G>T MANE Select	ENSP00000382179.4:p.Arg858Leu
ENST00000356338.10:c.2573G>T	ENSP00000348693.6:p.Arg858Leu
ENST00000358212.10:c.2573G>T	ENSP00000350945.7:p.Arg858Leu
ENST00000399231.7:c.2573G>T	ENSP00000382177.3:p.Arg858Leu
ENST00000399233.6:c.2573G>T	ENSP00000382179.3:p.Arg858Leu
ENST00000553916.5:c.2573G>T	ENSP00000451109.1:p.Arg858Leu
ENST00000556196.5:c.*2257G>T	ENSP00000451178.1:n.*2257G>T
ENST00000613858.4:c.2573G>T	ENSP00000481420.1:p.Arg858Leu
NM_000259.3:c.2573G>T , LRG_86t1:c.2573G>T	NP_000250.3:p.Arg858Leu
NM_001142495.1:c.2573G>T	NP_001135967.1:p.Arg858Leu
XM_005254397.2:c.2573G>T	XP_005254454.1:p.Arg858Leu
XM_005254398.3:c.2573G>T	XP_005254455.1:p.Arg858Leu
XM_011521606.1:c.2579G>T	XP_011519908.1:p.Arg860Leu
XM_011521607.1:c.2579G>T	XP_011519909.1:p.Arg860Leu
XM_011521608.1:c.2579G>T	XP_011519910.1:p.Arg860Leu
XM_011521609.1:c.2579G>T	XP_011519911.1:p.Arg860Leu
XM_011521610.1:c.2579G>T	XP_011519912.1:p.Arg860Leu
XM_011521611.1:c.2579G>T	XP_011519913.1:p.Arg860Leu
XM_011521612.1:c.2579G>T	XP_011519914.1:p.Arg860Leu
XM_005254397.4:c.2573G>T	XP_005254454.1:p.Arg858Leu
XM_011521606.2:c.2645G>T	XP_011519908.2:p.Arg882Leu
XM_011521607.3:c.2645G>T	XP_011519909.2:p.Arg882Leu
XM_011521608.3:c.2645G>T	XP_011519910.2:p.Arg882Leu
XM_011521609.3:c.2645G>T	XP_011519911.2:p.Arg882Leu
XM_011521610.3:c.2645G>T	XP_011519912.2:p.Arg882Leu
XM_011521611.3:c.2645G>T	XP_011519913.2:p.Arg882Leu
XM_011521612.3:c.2645G>T	XP_011519914.2:p.Arg882Leu
XM_017022227.2:c.2537G>T	XP_016877716.1:p.Arg846Leu
NM_001142495.2:c.2573G>T	NP_001135967.2:p.Arg858Leu
NM_001382347.1:c.2573G>T MANE Select	NP_001369276.1:p.Arg858Leu
NM_001382348.1:c.2645G>T	NP_001369277.1:p.Arg882Leu
NM_001382349.1:c.2645G>T	NP_001369278.1:p.Arg882Leu