Canonical Allele Identifier: CA2229281048

Gene: LRRC36

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375273G= , CM000678.2:g.67375273G=	GRCh38
NC_000016.9:g.67409176G= , CM000678.1:g.67409176G=	GRCh37
NC_000016.8:g.65966677G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1521G= MANE Select	ENSP00000329943.6:p.Leu507=
ENST00000329956.10:c.1521G=	ENSP00000329943.6:p.Leu507=
ENST00000435835.3:c.1132-3316G=	ENSP00000411122.3:n.1132-3316G=
ENST00000563189.5:c.1158G=	ENSP00000455103.1:p.Leu386=
ENST00000565019.6:c.1072-42G=
ENST00000567723.5:c.*847G=	ENSP00000455799.1:n.*847G=
ENST00000567823.5:c.*16G=	ENSP00000456164.1:n.*16G=
ENST00000568010.5:c.*261G=	ENSP00000455018.1:n.*261G=
NM_001161575.1:c.1158G=	NP_001155047.1:p.Leu386=
NM_018296.5:c.1521G=	NP_060766.5:p.Leu507=
XM_005256025.2:c.1521G=	XP_005256082.1:p.Leu507=
XM_005256026.2:c.1080G=	XP_005256083.1:p.Leu360=
XM_005256027.2:c.1521G=	XP_005256084.1:p.Leu507=
XM_005256028.1:c.1017G=	XP_005256085.1:p.Leu339=
XM_011523199.1:c.1521G=	XP_011521501.1:p.Leu507=
XM_011523200.1:c.1521G=	XP_011521502.1:p.Leu507=
XM_011523201.1:c.1017G=	XP_011521503.1:p.Leu339=
XM_011523202.1:c.1014G=	XP_011521504.1:p.Leu338=
XM_011523203.1:c.903G=	XP_011521505.1:p.Leu301=
XM_011523204.1:c.795G=	XP_011521506.1:p.Leu265=
XM_011523205.1:c.795G=	XP_011521507.1:p.Leu265=
XR_243416.2:n.1540G=
XR_429723.1:n.1529G=
XM_011523202.2:c.1014G=	XP_011521504.1:p.Leu338=
XM_017023400.2:c.1521G=	XP_016878889.1:p.Leu507=
XM_017023401.1:c.770G=	XP_016878890.1:p.Cys257=
XM_017023402.1:c.593G=	XP_016878891.1:p.Cys198=
XM_024450338.1:c.795G=	XP_024306106.1:p.Leu265=
NM_018296.6:c.1521G= MANE Select	NP_060766.5:p.Leu507=
NM_001161575.2:c.1158G=	NP_001155047.1:p.Leu386=