Canonical Allele Identifier: CA7755865

Gene: LYSMD4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.99729590C>T , CM000677.2:g.99729590C>T	GRCh38
NC_000015.9:g.100269795C>T , CM000677.1:g.100269795C>T	GRCh37
NC_000015.8:g.98087318C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001284417.2:c.424G>A MANE Select	NP_001271346.1:p.Glu142Lys
ENST00000684762.1:c.424G>A MANE Select	ENSP00000506747.1:p.Glu142Lys
NM_001284417.1:c.424G>A	NP_001271346.1:p.Glu142Lys
NM_001284418.1:c.424G>A	NP_001271347.1:p.Glu142Lys
NM_001284418.2:c.424G>A	NP_001271347.1:p.Glu142Lys
NM_001284419.1:c.412G>A	NP_001271348.1:p.Glu138Lys
NM_001284419.2:c.412G>A	NP_001271348.1:p.Glu138Lys
NM_001284420.1:c.241G>A	NP_001271349.1:p.Glu81Lys
NM_001284421.1:c.46G>A	NP_001271350.1:p.Glu16Lys
NM_001284421.2:c.46G>A	NP_001271350.1:p.Glu16Lys
NM_001284422.1:c.46G>A	NP_001271351.1:p.Glu16Lys
NM_001284422.2:c.46G>A	NP_001271351.1:p.Glu16Lys
NM_152449.3:c.427G>A	NP_689662.2:p.Glu143Lys
NM_152449.4:c.427G>A	NP_689662.2:p.Glu143Lys
ENST00000332728.8:c.46G>A	ENSP00000333008.5:p.Glu16Lys
ENST00000344791.6:c.427G>A	ENSP00000342840.2:p.Glu143Lys
ENST00000409796.5:c.424G>A	ENSP00000386283.1:p.Glu142Lys
ENST00000479791.1:n.820G>A
ENST00000484050.1:n.459G>A
ENST00000493256.1:n.672G>A
ENST00000496108.5:n.100+3755G>A
ENST00000545021.2:c.241G>A	ENSP00000445357.2:p.Glu81Lys
ENST00000604213.1:n.47+3755G>A
XM_006720396.2:c.424G>A	XP_006720459.1:p.Glu142Lys
XM_006720397.2:c.241G>A	XP_006720460.2:p.Glu81Lys
XM_011521241.1:c.301G>A	XP_011519543.1:p.Glu101Lys
XM_011521242.1:c.424G>A	XP_011519544.1:p.Glu142Lys
XM_011521242.3:c.424G>A	XP_011519544.1:p.Glu142Lys
XM_011521243.1:c.424G>A	XP_011519545.1:p.Glu142Lys
XM_011521243.3:c.424G>A	XP_011519545.1:p.Glu142Lys
XM_011521244.1:c.145G>A	XP_011519546.1:p.Glu49Lys
XM_011521245.1:c.241G>A	XP_011519547.1:p.Glu81Lys
XM_011521245.3:c.241G>A	XP_011519547.1:p.Glu81Lys
XM_017021926.2:c.424G>A	XP_016877415.1:p.Glu142Lys
XM_017021927.1:c.178G>A	XP_016877416.1:p.Glu60Lys
XM_017021928.1:c.46G>A	XP_016877417.1:p.Glu16Lys
XM_017021929.1:c.46G>A	XP_016877418.1:p.Glu16Lys
XM_017021930.2:c.427G>A	XP_016877419.1:p.Glu143Lys
XR_001751095.2:n.256G>A
XR_931753.1:n.834G>A
XR_931754.1:n.834G>A
XR_931755.1:n.834G>A