Canonical Allele Identifier: CA393966307

Gene: LRRK1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101029054G>T , CM000677.2:g.101029054G>T	GRCh38
NC_000015.9:g.101569259G>T , CM000677.1:g.101569259G>T	GRCh37
NC_000015.8:g.99386782G>T	NCBI36
NG_052791.1:g.115038G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024652.6:c.2785G>T MANE Select	NP_078928.3:p.Glu929Ter
ENST00000388948.8:c.2785G>T MANE Select	ENSP00000373600.3:p.Glu929Ter
NM_024652.4:c.2785G>T	NP_078928.3:p.Glu929Ter
NM_024652.5:c.2785G>T	NP_078928.3:p.Glu929Ter
ENST00000388948.7:c.2785G>T	ENSP00000373600.3:p.Glu929Ter
ENST00000525284.5:c.*718G>T	ENSP00000433069.1:n.*718G>T
ENST00000531270.5:c.*713G>T	ENSP00000431668.1:n.*713G>T
XM_005254979.2:c.670G>T	XP_005255036.1:p.Glu224Ter
XM_005254979.3:c.670G>T	XP_005255036.1:p.Glu224Ter
XM_011522012.1:c.2785G>T	XP_011520314.1:p.Glu929Ter
XM_011522012.2:c.2785G>T	XP_011520314.1:p.Glu929Ter
XM_011522013.1:c.2785G>T	XP_011520315.1:p.Glu929Ter
XM_011522013.2:c.2785G>T	XP_011520315.1:p.Glu929Ter
XM_011522014.1:c.2785G>T	XP_011520316.1:p.Glu929Ter
XM_011522014.2:c.2785G>T	XP_011520316.1:p.Glu929Ter
XM_011522015.1:c.2041G>T	XP_011520317.1:p.Glu681Ter
XM_011522015.3:c.2041G>T	XP_011520317.1:p.Glu681Ter
XM_011522016.1:c.2482G>T	XP_011520318.1:p.Glu828Ter
XM_011522016.2:c.2482G>T	XP_011520318.1:p.Glu828Ter
XM_011522017.1:c.670G>T	XP_011520319.1:p.Glu224Ter
XM_011522017.2:c.670G>T	XP_011520319.1:p.Glu224Ter
XM_011522018.1:c.670G>T	XP_011520320.1:p.Glu224Ter
XM_011522018.2:c.670G>T	XP_011520320.1:p.Glu224Ter
XM_011522019.1:c.2785G>T	XP_011520321.1:p.Glu929Ter
XM_011522019.2:c.2785G>T	XP_011520321.1:p.Glu929Ter
XM_017022570.1:c.1312G>T	XP_016878059.1:p.Glu438Ter
XR_931905.1:n.3139G>T
XR_931905.2:n.3342G>T