Canonical Allele Identifier: CA479256652
Community Standard Title: NM_198578.4(LRRK2):c.3906G>T (p.Leu1302=)
Gene: LRRK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40305913G>T , CM000674.2:g.40305913G>T GRCh38
NC_000012.11:g.40699715G>T , CM000674.1:g.40699715G>T GRCh37
NC_000012.10:g.38985982G>T NCBI36
NG_011709.1:g.85903G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198578.4:c.3906G>T MANE Select NP_940980.4:p.Leu1302=
ENST00000298910.12:c.3906G>T MANE Select ENSP00000298910.7:p.Leu1302=
NM_198578.3:c.3906G>T NP_940980.3:p.Leu1302=
ENST00000298910.11:c.3906G>T ENSP00000298910.7:p.Leu1302=
ENST00000430804.5:c.1202G>T
ENST00000479187.5:n.587G>T
ENST00000679360.1:c.*2815G>T ENSP00000505368.1:n.*2815G>T
ENST00000680790.1:c.3651G>T ENSP00000505335.1:p.Leu1217=
XM_005268629.2:c.3906G>T XP_005268686.1:p.Leu1302=
XM_005268629.4:c.3906G>T XP_005268686.1:p.Leu1302=
XM_011537877.1:c.3906G>T XP_011536179.1:p.Leu1302=
XM_011537877.3:c.3906G>T XP_011536179.1:p.Leu1302=
XM_011537878.1:c.3906G>T XP_011536180.1:p.Leu1302=
XM_011537879.1:c.2703G>T XP_011536181.1:p.Leu901=
XM_011537880.1:c.3906G>T XP_011536182.1:p.Leu1302=
XM_011537881.1:c.3906G>T XP_011536183.1:p.Leu1302=
XM_011537881.3:c.3906G>T XP_011536183.1:p.Leu1302=
XM_011537882.1:c.3777+1779G>T XP_011536184.1:n.3777+1779G>T
XM_011537882.3:c.3777+1779G>T XP_011536184.1:n.3777+1779G>T
XM_017018786.2:c.3906G>T XP_016874275.1:p.Leu1302=
XM_017018787.1:c.822G>T XP_016874276.1:p.Leu274=
XM_017018788.2:c.168G>T XP_016874277.1:p.Leu56=
XM_024448833.1:c.2703G>T XP_024304601.1:p.Leu901=
XR_001748574.2:n.4148G>T