Canonical Allele Identifier: CA393954929
Community Standard Title: NM_024652.6(LRRK1):c.4480C>T (p.Arg1494Ter)
Gene: LRRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101057003C>T , CM000677.2:g.101057003C>T GRCh38
NC_000015.9:g.101597208C>T , CM000677.1:g.101597208C>T GRCh37
NC_000015.8:g.99414731C>T NCBI36
NG_052791.1:g.142987C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024652.6:c.4480C>T MANE Select NP_078928.3:p.Arg1494Ter
ENST00000388948.8:c.4480C>T MANE Select ENSP00000373600.3:p.Arg1494Ter
NM_024652.4:c.4480C>T NP_078928.3:p.Arg1494Ter
NM_024652.5:c.4480C>T NP_078928.3:p.Arg1494Ter
ENST00000388948.7:c.4480C>T ENSP00000373600.3:p.Arg1494Ter
ENST00000525284.5:c.*2413C>T ENSP00000433069.1:n.*2413C>T
ENST00000526457.3:c.510C>T
ENST00000531270.5:c.*2244C>T ENSP00000431668.1:n.*2244C>T
XM_005254979.2:c.2365C>T XP_005255036.1:p.Arg789Ter
XM_005254979.3:c.2365C>T XP_005255036.1:p.Arg789Ter
XM_011522012.1:c.4480C>T XP_011520314.1:p.Arg1494Ter
XM_011522012.2:c.4480C>T XP_011520314.1:p.Arg1494Ter
XM_011522013.1:c.4480C>T XP_011520315.1:p.Arg1494Ter
XM_011522013.2:c.4480C>T XP_011520315.1:p.Arg1494Ter
XM_011522014.1:c.4480C>T XP_011520316.1:p.Arg1494Ter
XM_011522014.2:c.4480C>T XP_011520316.1:p.Arg1494Ter
XM_011522015.1:c.3736C>T XP_011520317.1:p.Arg1246Ter
XM_011522015.3:c.3736C>T XP_011520317.1:p.Arg1246Ter
XM_011522016.1:c.4177C>T XP_011520318.1:p.Arg1393Ter
XM_011522016.2:c.4177C>T XP_011520318.1:p.Arg1393Ter
XM_011522017.1:c.2365C>T XP_011520319.1:p.Arg789Ter
XM_011522017.2:c.2365C>T XP_011520319.1:p.Arg789Ter
XM_011522018.1:c.2365C>T XP_011520320.1:p.Arg789Ter
XM_011522018.2:c.2365C>T XP_011520320.1:p.Arg789Ter
XM_017022570.1:c.3007C>T XP_016878059.1:p.Arg1003Ter
XR_001751721.1:n.3765-6224G>A
XR_001751723.1:n.3153-6224G>A
XR_001751724.1:n.121-6224G>A
XR_001751725.1:n.3765-6224G>A
XR_001751726.1:n.3765-6224G>A
XR_001751727.1:n.1945-6224G>A
XR_931905.1:n.4830C>T
XR_931905.2:n.5033C>T
XR_932735.1:n.2762-6224G>A
XR_932735.2:n.2764-6224G>A
XR_932736.1:n.463-6224G>A
XR_932737.1:n.1945-6224G>A
XR_932737.2:n.1945-6224G>A